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International Articles
WOS.SCI 1 DOI PM
High prevalence of low bone mineral density in young adults with phenylketonuria

Çiki, K , Kahraman, AB , Akar, HT , Yildiz, Y , Dursun, A (3 more authors)
POSTGRADUATE MEDICINE Volume 137 | 2025

WOS.SCI 0 DOI PM
Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort

Akar, HT , Kahraman, AB , Yildiz, Y , Baran, B , Çiki, K (7 more authors)
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM Volume 38 | 2025

WOS.SCI 2 DOI PM
Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes

Ilgaz, F , Hoeller, A , Marsaux, C , Banta-Wright, S , Coskun, T (10 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 48 | 2025

WOS.SCI 3 DOI PM
Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency

Yildiz, Y , Ardicli, D , Göçmen, R , Yalnizoglu, D , Topcu, M (3 more authors)
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Volume 49 | 2024

WOS.SCI 0 DOI PM
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity

Pinto, A , Ahring, K , Almeida, MF , Ashmore, C , Belanger-Quintana, A (25 more authors)
NUTRIENTS Volume 16 | 2024

WOS.ESCI 0 DOI
Why Infants with Some Inherited Metabolic Diseases do not Develop Neonatal Indirect Hyperbilirubinemia ? An Overlooked Detail

Öztürk, GK , Korkmaz, A , Celik, HT , Yigit, S , YURDAKOK, M (1 more authors)
JOURNAL OF PEDIATRIC RESEARCH Volume 11 | 2024

WOS.SCI 7 DOI PM
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

Pinto, A , Ahring, K , Almeida, MF , Ashmore, C , van spronsen, francjan (26 more authors)
NUTRIENTS Volume 16 | 2024

WOS.SCI 3 DOI
The effect of structural retrofitting and ventilation scenarios on the indoor microclimate of a historical library: The Necip Pasa Library, Turkiye

Coskun, T , Arsan, ZD , Akkurt, GG
JOURNAL OF BUILDING ENGINEERING Volume 93 | 2024

WOS.SCI 1 DOI PM
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy

Çiki, K , Yildiz, Y , Kahraman, AB , Ozgul, RK , Coskun, T (3 more authors)
MOLECULAR GENETICS AND METABOLISM Volume 140 | 2023

WOS.SCI 18 DOI
Cold plate enabling air and liquid cooling simultaneously: Experimental study for battery pack thermal management and electronic cooling

Coskun, T , Çetkin, E
INTERNATIONAL JOURNAL OF HEAT AND MASS TRANSFER Volume 217 | 2023

TR DİZİN
Vascularized mini cooling channels to achieve temperature uniformity: Battery thermal management and electronic cooling

COŞKUN TURGAY , ÇETKİN ERDAL
MIM Research Group Volume 9 issue 3 | 2023

WOS.SCI 13 DOI PM
Recommendations on phenylketonuria in Turkey

Coskun, T , Coker, M , Mungan, NO , Ozel, HG , Sivri, HS
TURKISH JOURNAL OF PEDIATRICS Volume 64 | 2022

WOS.SCI 3 DOI PM
Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism

Unsal, Y , YURDAKOK, M , Yigit, S , Celik, HT , Dursun, A (3 more authors)
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM Volume 35 | 2022

WOS.SCI,WOS.ISTP 0 DOI
Home infusion for antisense oligonucleotide therapy

Romano, E , Ayanoglu, ÇY , Coskun, T , Eser, G , Topaloglu, H
NEUROMUSCULAR DISORDERS Volume 32 | 2022

WOS.SCI 1 DOI PM
Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

Akar, HT , Yildiz, Y , Güvenkaya, G , Çiki, K , Kahraman, AB (5 more authors)
BALKAN MEDICAL JOURNAL Volume 39 | 2022

WOS.SCI 8 DOI PM
Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey

Atilla, H , Coskun, T , Elibol, B , Kadayifcilar, S , Altinel, S
JOURNAL OF AAPOS Volume 25 | 2021

WOS.SCI 13 DOI PM
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders

Semeraro, M , Sacchetti, E , Deodato, F , Coskun, T , Lay, I (5 more authors)
ORPHANET JOURNAL OF RARE DISEASES Volume 16 | 2021

WOS.SCI 5 DOI PM
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Gürbüz, BB , Yilmaz, DY , Ozgul, RK , Kosukcu, C , Dursun, A (3 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 63 | 2021

WOS.SCI,WOS.SSCI 6 DOI PM
Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center

Yoldas, TC , Gürbüz, BB , Akar, HT , Ozmert, EN , Coskun, T
TURKISH JOURNAL OF PEDIATRICS Volume 63 | 2021

WOS.SCI 2 DOI PM
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries

Evers, RAF , van Wegberg, A , Ahring, K , Beblo, S , Bélanger-Quintana, A (18 more authors)
MOLECULAR GENETICS AND METABOLISM Volume 132 | 2021

WOS.ESCI 1 DOI
Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients

Gürbüz, BB , Aypar, E , Alehan, D , Tokatli, A , Coskun, T (2 more authors)
JOURNAL OF PEDIATRIC RESEARCH Volume 8 | 2021

WOS.ESCI 1 DOI
Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy

Gürbüz, BB , Aykan, HH , Çiki, K , Karagöz, T , Sivri, S (3 more authors)
CUKUROVA MEDICAL JOURNAL Volume 46 | 2021

WOS.SCI 4 DOI PM
COVID-19-related anxiety in phenylketonuria patients

Akar, HT , Karaboncuk, Y , Çiki, K , Kahraman, AB , Erdal, I (5 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 63 | 2021

WOS.SCI,WOS.SSCI 12 DOI PM
Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder

Yildiz, Y , Göçmen, R , Yaramis, A , Coskun, T , Haliloglu, G
PEDIATRICS Volume 146 | 2020

WOS.SCI 13 DOI PM
Oral health status of children with phenylketonuria

Ballikaya, E , Yildiz, Y , Sivri, HS , Tokatli, A , Dursun, A (3 more authors)
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM Volume 33 | 2020

WOS.SCI 15 DOI PM
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe

Yildiz, Y , Arslan, M , Çelik, G , Kasapkara, ÇS , Ceylaner, S (4 more authors)
AMERICAN JOURNAL OF MEDICAL GENETICS PART A Volume 182 | 2020

WOS.SCI 8 DOI PM
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey

Sekeroglu, HT , Karaosmanoglu, B , Taskiran, EZ , Kiper, POS , Alikasifoglu, M (3 more authors)
MOLECULAR SYNDROMOLOGY Volume 11 | 2020

WOS.SCI 160 DOI PM
PKU dietary handbook to accompany PKU guidelines

MacDonald, A , van Wegberg, A , Ahring, K , Beblo, S , Bélanger-Quintana, A (15 more authors)
ORPHANET JOURNAL OF RARE DISEASES Volume 15 | 2020

WOS.SCI,WOS.SSCI 4 DOI PM
Caring for a Child with Phenylketonuria: Parental Experiences from a Eurasian Country

Akkus, PZ , Gürbüz, BB , Çiki, K , Bahadur, EI , Karahan, S (3 more authors)
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS Volume 41 | 2020

WOS.SCI 0
Cerebrotendinous xanthomatosis with novel compound heterozygous mutation ofCYP27A1gene

Baltaci, HNC , Ada, BS , Kutlay, NY , Tükün, A , Teber-Tiras, S (1 more authors)
EUROPEAN JOURNAL OF HUMAN GENETICS Volume 28 | 2020

WOS.SCI 13 DOI PM
Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review

Kilic, M , Dorum, S , Topak, A , Yazici, MU , Ezgu, FS (1 more authors)
AMERICAN JOURNAL OF MEDICAL GENETICS PART A Volume 182 | 2020

WOS.SCI 4 DOI PM
Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay

Hizal, M , Yeke, B , Yildiz, Y , Öztürk, A , Gürbüz, BB (1 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 62 | 2020

WOS.SCI 6 DOI PM
Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department

Yildiz, Y , Yildiz, LA , Dursun, A , Tokatli, A , Coskun, T (2 more authors)
EUROPEAN JOURNAL OF PEDIATRICS Volume 179 | 2020

WOS.SCI 11 DOI PM
Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients

Gürbüz, BB , Yilmaz, DY , Coskun, T , Tokatli, A , Dursun, A (1 more authors)
EUROPEAN JOURNAL OF MEDICAL GENETICS Volume 63 | 2020

WOS.SCI 35 DOI
Heat Transfer Enhancement in a Microchannel Heat Sink: Nanofluids and/or Micro Pin Fins

Coskun, T , Çetkin, E
HEAT TRANSFER ENGINEERING Volume 41 | 2020

WOS.ESCI 18 DOI
A review of heat and fluid flow characteristics in microchannel heat sinks

Coskun, T , Çetkin, E
HEAT TRANSFER Volume 49 | 2020

Emerging Sources Citation Index
A review of heat and fluid flow characteristics in microchannel heat sinks

COŞKUN TURGAY , ÇETKİN ERDAL
Heat Transfer Volume 49 issue 8 | 2020

WOS.SCI 4 DOI PM
Imaging liver nodules in tyrosinemia type-1: A retrospective review of 16 cases in a tertiary pediatric hospital

Ozcan, HN , Karçaaltincaba, M , Pektas, E , Sivri, HS , Oguz, B (4 more authors)
EUROPEAN JOURNAL OF RADIOLOGY Volume 116 | 2019

WOS.SCI 19 DOI PM
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

Yildiz, Y , Talim, B , Haliloglu, G , Topaloglu, H , Akçören, Z (4 more authors)
PEDIATRIC NEUROLOGY Volume 99 | 2019

WOS.ESCI 21 DOI PM
Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

Sprute, R , Ardicli, D , Oguz, KK , Malenica-Mandel, A , Daimagüler, HS (5 more authors)
HUMAN GENOME VARIATION Volume 6 | 2019

WOS.SCI 9 DOI PM
The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis

Gürbüz, BB , Aypar, E , Coskun, T , Alehan, D , Dursun, A (2 more authors)
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM Volume 32 | 2019

WOS.SCI 50 DOI PM
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

Muntau, AC , Adams, DJ , Bélanger-Quintana, A , Bushueva, TV , Cerone, R (13 more authors)
MOLECULAR GENETICS AND METABOLISM Volume 127 | 2019

WOS.SCI 5 DOI PM
Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency

Topaloglu, R , Inözü, M , Gülhan, B , Gürbüz, BB , Talim, B (1 more authors)
NEPHRON Volume 142 | 2019

SCI
Heat Transfer Enhancement in a Microchannel Heat Sink: Nanofluids and/or Micro Pin Fins

COŞKUN TURGAY , ÇETKİN ERDAL
Heat Transfer Engineering Volume 41 issue 21 | 2019

WOS.SCI,WOS.SSCI 13 DOI PM
Cognitive and behavioral impairment in mild hyperphenylalaninemia

Evinç, SG , Pektas, E , Foto-Özdemir, D , Yildiz, Y , Karaboncuk, Y (6 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 60 | 2018

WOS.SCI 0
TWO CASES WITH DIVERSE COURSE OF AHUS RELATED TO COBALAMIN C DEFECT

Inözü, M , Gülhan, B , Tokatli, A , Coskun, T , Topaloglu, R
PEDIATRIC NEPHROLOGY Volume 33 | 2018

WOS.SCI 8 DOI
The potential role of gut microbiota and its modulators in the management of propionic and methylmalonic acidemia

Burlina, A , Tims, S , van Spronsen, FJ , Sperl, W , Burlina, AP (6 more authors)
EXPERT OPINION ON ORPHAN DRUGS Volume 6 | 2018

TR DİZİN
The effect of time delay of fluid flow in a vascularized plate

YENİGÜN ONUR, COŞKUN TURGAY , ÇETKİN ERDAL
Research on Engineering Structures and Materials Volume 4 issue 3 | 2018

WOS.SCI 17 DOI PM
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

Kilic, M , Dursun, A , Coskun, T , Tokatli, A , Ozgul, RK (13 more authors)
AMERICAN JOURNAL OF MEDICAL GENETICS PART A Volume 173 | 2017

WOS.SCI 4 DOI PM
Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride

Yildiz, Y , Dursun, A , Tokatli, A , Coskun, T , Sivri, S
GYNECOLOGICAL ENDOCRINOLOGY Volume 33 | 2017

WOS.SCI 11 DOI PM
Deoxyguanosine kinase deficiency: a report of four patients

Ünal, Ö , Hismi, B , Kilic, M , Gülsen, HH , Coskun, T (4 more authors)
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM Volume 30 | 2017

WOS.SCI 6 DOI PM
Screening for mucopolysaccharidoses in the Turkish population: Analytical and clinical performance of an age-range specific, dye-based, urinary glycosaminoglycan assay

El Moustafa, K , Sivri, S , Karahan, S , Coskun, T , Akblyik, F (1 more authors)
CLINICA CHIMICA ACTA Volume 464 | 2017

WOS.ISTP,WOS.ISSHP 6 DOI
The effect of spatial interventions on historic buildings' indoor climate (Case Study: Tire Necip Pasa Library, Izmir-Turkey)

Coskun, T , Gülhan, Ö , Sahin, CD , Arsan, ZD , Akkurt, GG
CLIMAMED 2017 - MEDITERRANEAN CONFERENCE OF HVAC HISTORICAL BUILDINGS RETROFIT IN THE MEDITERRANEAN AREA Volume 133 | 2017

WOS.SCI,WOS.AHCI 29 DOI
Investigation of indoor microclimate of historic libraries for preventive conservation of manuscripts. Case Study: Tire Necip Pasa Library, Izmir-Turkey

Sahin, CD , Coskun, T , Arsan, ZD , Akkurt, GG
SUSTAINABLE CITIES AND SOCIETY Volume 30 | 2017

WOS.ESCI 7 DOI
THE IMPORTANCE OF INTERNAL HEAT GAINS FOR BUILDING COOLING DESIGN

Coskun, T , Turhan, C , Arsan, ZD , Akkurt, GG
JOURNAL OF THERMAL ENGINEERING Volume 3 | 2017

EBSCO
The effect of spatial interventions on historic buildings’ indoorclimate (Case Study: Tire Necip Paşa Library, Izmir-Turkey)

COŞKUN TURGAY , GÜLHAN ÖZCAN, ŞAHİN CEM DOĞAN, DURMUŞ ARSAN ZEYNEP, GÖKÇEN AKKURT GÜLDEN
Energy Procedia Volume 133 | 2017

SCI-Expanded
Investigation of indoor microclimate of historic libraries for preventive conservation of manuscripts. Case Study: Tire Necip Paşa Library, İzmir-Turkey

ŞAHİN CEM DOĞAN, COŞKUN TURGAY , DURMUŞ ARSAN ZEYNEP, GÖKÇEN AKKURT GÜLDEN
Sustainable Cities and Society Volume 30 | 2017

ESCI
The importance of internal heat gains for building cooling design

COŞKUN TURGAY , TURHAN CİHAN, DURMUŞ ARSAN ZEYNEP, GÖKÇEN AKKURT GÜLDEN
Journal of Thermal Engineering Volume 3 issue 1 | 2017

WOS.SCI,WOS.ISTP 0 DOI
Two cases with mucopolysaccharidosis type VII

Sivri, S , Pektas, E , Yildiz, Y , Dursun, A , Tokatli, A (1 more authors)
MOLECULAR GENETICS AND METABOLISM Volume 117 | 2016

WOS.SCI 108 DOI PM
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Olsen, RKJ , Konaríková, E , Giancaspero, TA , Mosegaard, S , Boczonadi, V (44 more authors)
AMERICAN JOURNAL OF HUMAN GENETICS Volume 98 | 2016

WOS.SCI 32 DOI PM
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Huemer, M , Carvalho, DR , Brum, JM , Ünal, Ö , Coskun, T (11 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 39 | 2016

WOS.SCI 1
A Nonvirilized form of Classic 3β-Hydroxysteroid Dehydrogenase Deficiency Due to a Homozygous S218P Mutation in the HSD3B2 Gene in a Girl with Classic Phenylketonuria

Alikasifoglu, A , Buyukyilmaz, G , Gonc, EN , Ozon, ZA , Kandemir, N (7 more authors)
HORMONE RESEARCH IN PAEDIATRICS Volume 86 | 2016

WOS.SCI 27 DOI PM
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

Gizewska, M , MacDonald, A , Bélanger-Quintana, A , Burlina, A , Cleary, M (6 more authors)
EUROPEAN JOURNAL OF PEDIATRICS Volume 175 | 2016

WOS.SCI 7 PM
Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder

Yildiz, Y , Dursun, A , Tokatli, A , Coskun, T , Sivri, HS
TURKISH JOURNAL OF PEDIATRICS Volume 58 | 2016

WOS.SCI 12 DOI PM
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin

Horoz, OO , Mungan, NO , Yildizdas, D , Hergüner, Ö , Ceylaner, S (3 more authors)
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM Volume 29 | 2016

WOS.SCI 12 DOI PM
Evaluation and identification of IDUA gene mutations in Turkish patients with mucopolysaccharidosis type I

Atçeken, N , Ozgul, RK , Yilmaz, DY , Tokatli, A , Coskun, T (3 more authors)
TURKISH JOURNAL OF MEDICAL SCIENCES Volume 46 | 2016

WOS.SCI 6 PM
Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four

Ünal, Ö , Gokmen-Ozel, H , Coskun, T , Ozgul, RK , Yucel, D (4 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 57 | 2015

WOS.SCI 6 PM
Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation

Ünal, Ö , Ozgul, RK , Yucel, D , Yalnizoglu, D , Tokatli, A (4 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 57 | 2015

WOS.SCI 28 DOI PM
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening

Karaca, M , Ozgul, RK , Ünal, Ö , Yücel-Yilmaz, D , Kilic, M (5 more authors)
EUROPEAN JOURNAL OF PEDIATRICS Volume 174 | 2015

WOS.SCI 2 DOI PM
Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency

Sekeroglu, HT , Hismi, B , Kadayifcilar, S , Coskun, T
JOURNAL OF AAPOS Volume 19 | 2015

WOS.SCI 2 PM
Conventional and advanced MR imaging in infantile Refsum disease

Kilic, M , Karli, OK , Haliloglu, G , Topcu, M , Wanders, RJA (1 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 57 | 2015

WOS.SCI,WOS.ISTP 0 DOI
Two adult siblings with progressive walking difficulty and visual disturbances

Sivri, HS , Yildiz, Y , Kiper, POS , Dursun, A , Tokatli, A (1 more authors)
MOLECULAR GENETICS AND METABOLISM Volume 114 | 2015

WOS.SCI 10 DOI PM
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

Karaca, M , Hismi, B , Ozgul, RK , Karaca, S , Yilmaz, DY (4 more authors)
GENE Volume 534 | 2014

WOS.SCI,WOS.ISTP 0 DOI
Cardiomyopathy in childhood: Results from a single tertiary care center

Batu, E , Pehlivanturk, M , Haliloglu, G , Utine, GE , Tekerek, NÜ (9 more authors)
NEUROMUSCULAR DISORDERS Volume 24 | 2014

WOS.BSCI 5 DOI PM
Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance

Ünal, Ö , Coskun, T , Orhan, D , Tokatli, A , Dursun, A (3 more authors)
JIMD REPORTS, VOL 13 Volume 13 | 2014

WOS.SCI 47 DOI PM
Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway

Gönüldas, B , Yilmaz, T , Sivri, HS , Kilinç, K , Genc, GA (2 more authors)
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY Volume 78 | 2014

WOS.SCI 3 PM
A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings

Kilic, E , Kilic, M , Utine, GE , Sivri, S , Coskun, T (1 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 56 | 2014

WOS.SCI 15 DOI PM
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia

Ozgul, RK , Karaca, M , Kilic, M , Kucuk, O , Yücel-Yilmaz, D (7 more authors)
EUROPEAN JOURNAL OF MEDICAL GENETICS Volume 57 | 2014

WOS.SCI,WOS.ISTP 0
Early laboratory diagnosis and bone marrow transplantation in MPS type I

El Moustafa, K , Lay, I , Ünal, Ö , Sivri, S , Coskun, T
FEBS JOURNAL Volume 281 | 2014

WOS.SCI 106 DOI PM
Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Stockler-Ipsiroglu, S , van Karnebeek, C , Longo, N , Korenke, GC , Mercimek-Mahmutoglu, S (27 more authors)
MOLECULAR GENETICS AND METABOLISM Volume 111 | 2014

WOS.SCI 5 PM
Serum alpha-fetoprotein levels in neonatal cholestasis

Demir, H , Hizal, G , Uslu-Kizilkan, N , Gürakan, F , Talim, B (3 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 55 | 2013

WOS.SCI 4 PM
Cobalamin C defect: a patient of late-onset type with homozygous p. R132*mutation

Kilic, M , Ozgul, RK , Dursun, A , Tokatli, A , Kalkanoglu-Sivri, HS (3 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 55 | 2013

WOS.SCI 5 DOI PM
Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks

Ünal, Ö , Ozgen, B , Orhan, D , Tokatli, A , Hismi, B (3 more authors)
JOURNAL OF CHILD NEUROLOGY Volume 28 | 2013

WOS.SCI 45 DOI PM
Genetic basis of hyperlysinemia

Houten, SM , te Brinke, H , Denis, S , Ruiter, JPN , Baumgartner, Matthias R. (11 more authors)
ORPHANET JOURNAL OF RARE DISEASES Volume 8 | 2013

WOS.SCI 13 DOI PM
Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance

Güzel-Ozantürk, A , Ozgul, RK , Ünal, Ö , Hismi, B , Aydin, HI (5 more authors)
GENE Volume 521 | 2013

WOS.SCI 1 DOI PM
A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy

Ünal, Ö , Orhan, D , Ostergaard, E , Tokatli, A , Dursun, A (4 more authors)
JOURNAL OF CHILD NEUROLOGY Volume 28 | 2013

WOS.SCI 11 DOI PM
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations

Ozgul, RK , Güzel-Ozantürk, A , Dündar, H , Yücel-Yilmaz, D , Coskun, T (4 more authors)
JOURNAL OF HUMAN GENETICS Volume 58 | 2013

WOS.SCI,WOS.ISTP 101 DOI PM
An update on serine deficiency disorders

van der Crabben, SN , Verhoeven-Duif, NM , Brilstra, EH , Van Maldergem, L , Coskun, T (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 36 | 2013

WOS.SCI 13 PM
When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center

Haliloglu, G , Vezir, E , Baydar, L , Önol, S , Sivri, S (2 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 54 | 2012

WOS.SCI 0
DIETARY MANAGEMENT AND GROWTH OF TETRAHYDROBIOPTERIN RESPONSIVE TURKISH PKU PATIENTS

Gokmen-Ozel, H , Ünal, Ö , Kalkanoglu-Sivri, HS , Koksal, G , Dursun, A (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 35 | 2012

WOS.SCI 0
MOLYBDENUM COFACTOR (MOCO) DEFICIENCY TYPE B; CLINICAL, BIOCHEMICAL AND NEUROIMAGING FEATURES OF FIVE PATIENTS WTH TWO NOVEL MUTATIONS

Hismi, B , Ünal, Ö , Sass, JO , Beermann, F , Ichida, K (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 35 | 2012

WOS.SCI 38 DOI PM
Secondary Hemophagocytosis in 3 Patients With Organic Acidemia Involving Propionate Metabolism

Gokce, M , Unal, O , Hismi, B , Gümrük, F , Coskun, T (6 more authors)
PEDIATRIC HEMATOLOGY AND ONCOLOGY Volume 29 | 2012

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Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs

Ünal, Ö , Hismi, B , Coskun, T , Tokatli, A , Dursun, A (1 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 54 | 2012

WOS.SCI 0
PROPIONIC ACIDEMIA PRESENTING WITH PERSISTENT PULMONARY HYPERTENSION IN TWO NEONATES

Hismi, B , Teksam, O , Ünal, Ö , Takçi, S , Ertugrul, I (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 35 | 2012

WOS.SCI 13 DOI PM
Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations

Dündar, H , Ozgul, RK , Güzel-Ozantürk, A , Dursun, A , Sivri, S (3 more authors)
MOLECULAR GENETICS AND METABOLISM Volume 106 | 2012

WOS.BSCI 10 DOI PM
A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene

Kilic, M , Taskesen, M , Coskun, T , Gürakan, F , Tokatli, A (4 more authors)
JIMD REPORTS - CASE AND RESEARCH REPORTS, 2011/2 Volume 2 | 2012

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MOLECULAR CHARACTERISATION OF BIOTINIDASE GENE MUTATIONS IN TURKISH PATIENTS; AN UPDATE OF THE RESULTS

Karaca, M , Yucel, D , Ünal, Ö , Guzel, A , Tokatli, A (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 35 | 2012

WOS.SCI 0
3-HYDROXY-3-METHYLGLUTARYL-COENZYME A (HMG-COA)-LYASE DEFICIENCY: A DISORDER OF KETOGENESIS AND LEUCINE CATABOLISM

Sass, JO , Beermann, F , Spiekerkoetter, U , Hismi, B , Coskun, T (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 35 | 2012

WOS.SCI 0
LONG TERM GROWTH STATUS OF TURKISH CHILDREN WITH PHENYLKETONURIA: A RETROSPECTIVE STUDY

Gokmen-Ozel, H , Gedikli, C , Koksal, G , Coskun, T
JOURNAL OF INHERITED METABOLIC DISEASE Volume 35 | 2012

WOS.BSCI 22 DOI PM
Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency

Kilic, M , Ozgul, RK , Coskun, T , Yucel, D , Karaca, M (5 more authors)
JIMD REPORTS - CASE AND RESEARCH REPORTS, 2011/3 Volume 3 | 2012

WOS.BSCI 6 DOI PM
A Rare Galactosemia Complication: Vitreous Hemorrhage

Takci, S , Kadayifcilar, S , Coskun, T , Yigit, S , Hismi, B
JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/2 Volume 5 | 2012

WOS.SCI 37 DOI PM
Genetic basis of cystinosis in Turkish patients: a single-center experience

Topaloglu, R , Vilboux, T , Coskun, T , Ozaltin, F , Tinloy, B (6 more authors)
PEDIATRIC NEPHROLOGY Volume 27 | 2012

WOS.SCI 0
ENZYME REPLACEMENT THERAPY (ERT)RESULTS OF PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE II (HUNTER SYNDROME)

Ünal, Ö , Dogru-Ersoz, D , Alehan, D , Saglam, M , Hismi, B (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 35 | 2012

WOS.SCI 0
SEVERE AZOTEMIA AND HYPERNATREMIC DEHYDRATION IN AN INFANT WITH PHENYLKETONURIA

Ünal, Ö , Duzova, A , Hismi, B , Dursun, A , Tokatli, A (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 35 | 2012

WOS.SCI 0
THE 48-HOUR TETRAHYDOBIOPTERIN (BH4) LOADING TEST AND LONG-TERM OUTCOME OF PATIENTS WITH BH4 TREATMENT IN TURKISH PHENYLKETONURIA (PKU) PATIENTS

Ünal, Ö , Gokmen-Ozel, H , Coskun, T , Hismi, B , Tokatli, A (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 35 | 2012

WOS.SCI 0
A PATIENT WITH PYRUVATE CARBOXYLASE DEFICIENCY AND NEMALINE RODS ON MUSCLE BIOPSY

Ünal, Ö , Hismi, B , Dursun, A , Tokatli, A , Coskun, T (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 35 | 2012

WOS.SCI 0
AUDIOLOGICAL OUTCOMES OF MPS II: BEFORE AND AFTER ENZYME REPLACEMENT THERAPY

Yigit-Duran, O , Ünal, Ö , Genc, A , Hismi, B , Dursun, A (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 35 | 2012

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ACUTE INTERMITTENT PORPHYRIA: STILL UNCALLED BY PHYSICIANS

Hismi, B , Tanriöver, MD , Ünal, Ö , Sener, E , Temuçin, Ç (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 35 | 2012

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FEVER OF UNKNOWN ORIGIN IN A YOUNG ADULT WITH END-STAGE RENAL DISEASE, PREMATURE CORONARY ARTERY DISEASE AND POLYNEUROPATHY

Hismi, B , Yasar, Y , Ünal, Ö , Kiliç, L , Türkmen, E (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 35 | 2012

WOS.SCI 9 DOI PM
Zinc supplementation and TNF-α levels in vaccinated cardiac patients

Yalçin, SS , Karasimav, D , Alehan, D , Yalçin, SS , Özkutlu, S (1 more authors)
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY Volume 25 | 2011

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ACUTE RESPIRATORY DISTRESS SYNDROME IN TWO PATIENTS WITH ORGANIC ACIDEMIA INVOLVING PROPIONATE METABOLISM

Ünal, Ö , Hismi, B , Sivri, HSK , Dursan, A , Tokatli, A (1 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 34 | 2011

WOS.SCI 0
OUTCOME OF ENZYME REPLACEMENT THERAPY IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE VI

Kilic, M , Kalkanoglu-Sivri, HS , Dursun, A , Tokatli, A , Coskun, T
JOURNAL OF INHERITED METABOLIC DISEASE Volume 34 | 2011

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Home visits in phenylketonuria: a 12-month longitudinal study

Gokmen-Ozel, H , Buyuktuncer, Z , Koksal, G , Kalkanoglu-Sivri, HS , Coskun, T
TURKISH JOURNAL OF PEDIATRICS Volume 53 | 2011

WOS.SCI 0
THE PRESENCE OF NEGATIVE CORRELATION BETWEEN BLOOD HEMOGLOBIN AND PROPIONYLCARNITINE LEVELS IN METHYLMALONIC AND PROPIONIC ACIDEMIAS

Aydin, HI , Sivri, S , Dursun, A , Tokatli, A , Önol, S (1 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 34 | 2011

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CHALLENGES IN THE TREATMENT OF A PATIENT AFFECTED BY BOTH ARGININOSUCCINIC ACIDURIA AND METHYLMALONIC ACIDURIA

Ünal, Ö , Hismi, B , Coskun, T , Tokatli, A , Dursun, A (1 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 34 | 2011

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NOVEL DELETION IN HYPOTONIA-CYSTINURIA SYNDROME

Aydin, HI , Okur, I , Creemers, JWM , Coskun, T
JOURNAL OF INHERITED METABOLIC DISEASE Volume 34 | 2011

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Gyrate atrophy of the choroid and retina: a case report

Büyüktortop, N , Alp, MN , Sivri, S , Coskun, T , Kural, G
TURKISH JOURNAL OF PEDIATRICS Volume 53 | 2011

WOS.SCI 0
A ZINC SULPHATE-RESISTANT ACRODERMATITIS ENTEROPATHICA PATIENT WITH A NOVEL MUTATION IN SLC39A4 GENE

Kilic, M , Taskesen, M , Coskun, T , Gürakan, F , Tokatli, A (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 34 | 2011

WOS.SCI 0
IDENTIFICATION OF NOVEL MUTATIONS IN PROMOTER AND CODING REGIONS IN ALDOB GENE CAUSING HEREDITARY FRUCTOSE INTOLERANCE

Yucel, D , Ozgul, RK , Coskun, T , Sivri, HS , Tokatli, A (1 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 34 | 2011

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NEUROMETABOLIC DISEASES DIAGNOSED BY CEREBRAL SPINAL FLUID (CSF) ANALYSIS: POSITIVE YIELD AND RETROSPECTIVE EVALUATION FROM A TERTIARY CENTER

Haliloglu, G , Vezir, E , Baydar, L , Önol, S , Sivri, S (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 34 | 2011

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PHENOTYPICAL PROPERTIES AND RESPONSE TO CHOLESTEROL THERAPY OF SMITH-LEMLI-OPITZ SYNDROME CASES

Kilic, M , Tokatli, A , Alanay, Y , Kilic, E , Kalkanoglu-Sivri, HS (6 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 34 | 2011

WOS.SCI 0
MUTATION ANALYSIS IN ARSB GENE IN TURKISH PATIENTS WITH MPS TYPE VI: HIGH PREVALENCE OF L321P MUTATION

Ozgul, RK , Karaca, M , Sivri, HS , Tokatli, A , Coskun, T (1 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 34 | 2011

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Annual symposium of the SSIEM 2010

Coskun, T
JOURNAL OF INHERITED METABOLIC DISEASE Volume 34 | 2011

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A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome

Kilic, M , Sivri, HS , Dursun, A , Tokatli, A , De Meirleir, L (5 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 53 | 2011

WOS.BSCI 21 DOI PM
Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

Dursun, A , Ozgul, RK , Sivri, S , Tokatli, A , Guzel, A (6 more authors)
JIMD REPORTS: CASE AND RESEARCH REPORTS, 2011/1 Volume 1 | 2011

WOS.SCI 0
HEMOPHAGOCYTOSIS IN THREE PATIENTS WITH ORGANIC ACIDEMIA INVOLVING PROPIONATE METABOLISM

Gokce, M , Ünal, Ö , Hismi, B , Gümrük, F , Coskun, T (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 34 | 2011

WOS.SCI 0
NOVEL MUTATIONS IN TURKISH PATIENTS WITH PRIMARY CARNITINE DEFICIENCY

Kilic, M , Ozgul, RK , Yucel, D , Karaca, M , Dursun, A (5 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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GROWTH AND PROTEIN INTAKE IN PHENYLKETONURIA: RESULTS OF 398 TURKISH CHILDREN

Gokmen-Ozel, H , Buyuktuncer, Z , Koksal, G , Kilic, M , Dursun, A (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 0
GALACTOSEMIA IN A TURKISH POPULATION WITH A HIGH PREVALENCE OF Q188R MUTATION

Guzel, A , Ozgul, RK , Dündar, H , Coskun, T , Sivri, HS (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 0
RENAL AGENESIS IN ASSOCIATION WITH MATERNAL PKU SYNDROME

Kilic, M , Sivri, HS , Tokatli, A , Dursun, A , Coskun, T
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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BLOOD PHENYLALANINE CONTROL IN TURKISH PHENLYKETONURIC CHILDREN

Gokmen-Ozel, H , Buyuktuncer, Z , Koksal, G , Kilic, M , Dursun, A (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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The urinary cotinine levels of infants and the determinants

Yilmaz, G , Karacan, C , Besler, HT , Yurdakök, K , Coskun, T
TURKISH JOURNAL OF PEDIATRICS Volume 52 | 2010

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VITAMIN B6 AND B12 STATUS IN TURKISH CHILDREN WITH PHENYLKETONURIA

Buyuktuncer, Z , Gokmen-Ozel, H , Kucukkasap, T , Koksal, G , Kilic, M (5 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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TRANSCOBALAMIN II DEFICIENCY IN TWO CASES WITH A NOVEL MUTATION

Unal, S , Ozgul, RK , Dursun, A , YETGIN, S , Coskun, T (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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HOME VISITS IN PHENYLKETONURIA: A-12-MONTH LONGITIDUNAL STUDY

Gokmen-Ozel, H , Buyuktuncer, Z , Arpaci, N , Kasapogullari, P , Koksal, G (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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EVALUTION OF 42 PATIENTS WITH HYPERPHENYLALANINEMIA CAUSED BY A DEFECT IN TETRAHYDROBIOPTERIN METABOLISM

Kizilelma, A , Tokatli, A , Kalkanoglu-Sivri, HS , Dursun, A , Aydin, HI (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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A TURKISH PATIENT WITH LATE ONSET cbIC DEFECT CAUSED BY c.394C>T MUTATION

Kilic, M , Dursun, A , Tokatli, A , Sivri, HS , Anlar, B (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 0
POLYNEUROPATHY AS THE MAIN PRESENTING SYMPTOM IN PDH DEFICIENCY

Ünal, Ö , Hismi, B , Kilie, M , Dursun, A , Kalkanoglu-Sivri, HS (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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CIRRHOSIS ASSOCIATED WITH PROPIONATE METABOLISM

Dursun, A , Dündar, H , Ozgul, RK , Talim, B , Kale, G (5 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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SIX NOVEL MUTATIONS IN TURKISH PATIENTS WITH ISOVALERIC ACIDEMIA

Kucuk, O , Ozgul, RK , Karaca, M , Sivri, HS , Coskun, T (5 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 0
NOVEL HOMOGENTISATE DIOXIGENASE (HGD) GENE MUTATIONS IN ALKAPTONURIA PATIENTS

Hatipoglu, E , Ozgul, RK , Sivri, HS , Coskun, T , Tokatli, A (5 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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Antihyperlipidemic Agents Cause a Decrease in von Willebrand Factor Levels in Pediatric Patients with Familial Hyperlipidemia

Yalçin, SS , Günes, B , Unal, S , Gümrük, F , Coskun, T
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM Volume 23 | 2010

WOS.SCI 0
MOLECULAR AND STRUCTURAL ANALYSIS OF SIX NONSENSE MUTATIONS IN MUT METHYLMALONIC ACIDEMIA PATIENTS INCLUDING TWO NOVEL NONSENSE MUTATIONS

Dündar, H , Ozgul, RK , Ünal, Ö , Karaca, M , Aydin, HI (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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A NOVEL MUTATION IN DGUOK GENE IN A TURKISH NEWBORN

Kilic, M , Dursun, A , Sivri, HS , Tokatli, A , Akçören, Z (5 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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A NOVEL MUTATION IN BETA KETOTHIOLASE DEFICIENCY

Ünal, Ö , Hismi, B , Kilic, M , Dursun, A , Kalkanoglu-Sivri, HS (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 0
MUTATION ANALYSIS IN BIOTINIDASE GENE BY DENATURING HIGH PRESSURE LIQUID CHROMATOGRAPHY

Karaca, M , Ozgul, RK , Guzel, A , Kilic, M , Tokatli, A (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 1
THE SPECTRUM AND FREQUENCY OF ALDOLASE B GENE MUTATIONS IN TURKISH PATIENTS WITH HEREDITARY FRUCTOSE INTOLERANCE

Yucel, D , Ozgul, RK , Yilmaz, A , Sivri, HS , Coskun, T (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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Maternal and environmental determinants of breast-milk mercury concentrations

Yalçin, SS , Yurdakök, K , Yalçin, S , Karasimav, D , Coskun, T
TURKISH JOURNAL OF PEDIATRICS Volume 52 | 2010

WOS.SCI 0
Von Willebrand disease associated with heterozygous factor V G1691A mutation and thrombosis in a patient with mut0 methylmalonic acidemia: a paradoxical phenomenon

Aytac, S , Unal, S , Coskun, T , Tokatli, A , Sivri, S (4 more authors)
HAEMOPHILIA Volume 16 | 2010

WOS.SCI 0
HACETTEPE EXPERIENCE WITH PEROXISOMAL DISORDERS UNDER FOUR YEARS OF AGE

Kilic, M , Tokatli, A , Sivri, HS , Dursun, A , Topaloglu, H (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 4 DOI PM
L-2-Hydroxyglutaric Aciduria and Brain Tumors

Coskun, T
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY Volume 32 | 2010

WOS.SCI 0
COBALAMIN C DEFICIENT METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA: A CASE REPORT

Aydogdu, S , Yarar, C , Bor, O , Yakut, A , Coskun, T
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 0
MOLECULAR ANALYSIS OF HOMOCYSTINURIA IN TURKISH PATIENTS

Karaca, M , Ozgul, RK , Dündar, H , Coskun, T , Tokatli, A (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

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Additional Molecular Findings in Turkish Cystinosis Patients

Topaloglu, R , Vilboux, T , Tinloy, B , Coskun, T , Gunay-Aygun, M (7 more authors)
PEDIATRIC NEPHROLOGY Volume 25 | 2010

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The Relationship between Vitamin D Receptor Gene Polymorphisms and Bone Density, Osteocalcin Level and Growth in Adolescents

Ozaydin, E , Dayangac-Erden, D , Erdem-Yurter, H , Derman, O , Coskun, T
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM Volume 23 | 2010

WOS.SCI 0
THREE CASES WITH FRUCTOSE 1,6-BISPHOSPHATASE DEFICIENCY: TWO NOVEL MUTATIONS

Yucel, D , Ozgul, RK , Tokatli, A , Sivri, HS , Guzel, A (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 0
GLOBAL PANDEMIC OBESITY: HOW ABOUT IN PKU?

Anakoc, M , Kucukkasap, T , Koksal, G , Coskun, T
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 0
INFANTILE REFSUM DISEASE IN A TURKISH PATIENT: CASE REPORT

Kilic, M , Karli, OK , Coskun, T , Haliloglu, G , Wanders, RJA (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 0
MUTATION PROFILE OF BCKDHA, BCKDHB AND DBT GENES FOR MAPLE SYRUP URINE DISEASE IN TURKEY

Ozgul, RK , Guzel, A , Dündar, H , Yucel, D , Yilmaz, A (5 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 0
MUTATION DETECTION IN TURKISH PATIENTS WITH GLUTARIC ACIDURIA TYPE I

Guzel, A , Ozgul, RK , Yucel, D , Karaca, M , Kilic, M (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 0
MUTATIONS IN FUMARYLACETOACETATE HYDROLASE GENE AND GENOTYPE-PHENOTYPE RELATION

Ozgul, RK , Guzel, A , Mesci, L , Sivri, HS , Kilic, M (6 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 0
IDENTIFICATION OF MUTATIONS IN THE PCCA AND PCCB GENES CAUSING PROPIONIC ACIDEMIA IN TURKISH PATIENTS

Ozgul, RK , Yucel, D , Hismi, B , Karaca, M , Sivri, HS (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 33 | 2010

WOS.SCI 11 DOI PM
The effect of passive smoking and breast feeding on serum antioxidant vitamin (A, C, E) levels in infants

Yilmaz, G , Agras, PI , Hizli, S , Karacan, C , Besler, HT (2 more authors)
ACTA PAEDIATRICA Volume 98 | 2009

WOS.SCI 20 PM
Molecular genetics of maple syrup urine disease in the Turkish population

Gorzelany, K , Dursun, A , Coskun, T , Kalkanoglu-Sivri, SH , Gökcay, GF (3 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 51 | 2009

WOS.SCI 4 DOI PM
Prevalence of cystinuria among elementary schoolchildren in Eskisehir, Turkey

Aydogdu, S , Kirel, B , Coskun, T , Kose, S
SCANDINAVIAN JOURNAL OF UROLOGY AND NEPHROLOGY Volume 43 | 2009

WOS.SCI 6 PM
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures

Coskun, T , Aydin, HI , Kilic, M , Dursun, A , Haliloglu, G (3 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 51 | 2009

WOS.SCI 20 DOI PM
Effect of passive smoking on growth and infection rates of breast-fed and non-breast-fed infants

Yilmaz, G , Hizli, S , Karacan, C , Yurdakök, K , Coskun, T (1 more authors)
PEDIATRICS INTERNATIONAL Volume 51 | 2009

WOS.SCI 8 DOI PM
Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria

Haliloglu, G , Temuçin, Ç , Oguz, KK , Celiker, A , Coskun, T (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 32 | 2009

WOS.SCI 0
Renal functions of twenty seven children with methylmalonic Acidemia (MMA): Is there a good marker?

Aydin, HI , Duzova, A , Dursun, A , Sivri, S , Aksoy, T (4 more authors)
PEDIATRIC NEPHROLOGY Volume 23 | 2008

WOS.SCI 52 DOI PM
L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene:: Neuroimaging findings

Haliloglu, G , Jobard, F , Oguz, KK , Anlar, B , Akalan, N (4 more authors)
NEUROPEDIATRICS Volume 39 | 2008

WOS.SCI 0
Favourable outcome with oral creatine supplementation: Clinical and laboratory findings in five patients with GAMT deficiency

Haliloglu, G , Karli, OK , Dursun, A , Tokatli, A , Bodamer, O (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 31 | 2008

WOS.SCI 16 PM
Vitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient rickets

Bora, G , Özkan, B , Dayangac-Erden, D , Erdem-Yurter, H , Coskun, T
TURKISH JOURNAL OF PEDIATRICS Volume 50 | 2008

WOS.SCI 0
Severe axonal polyneuropathy due to dichloroacetate in a patient with pyruvate dehydrogenase deficiency

Dursun, A , Tokatly, A , Sivri, HS , Coskun, T
JOURNAL OF INHERITED METABOLIC DISEASE Volume 31 | 2008

WOS.SCI 2 DOI PM
Lymphocytic vacuolization in sialic acid storage disease

Kuskonmaz, B , Unal, S , Cördükcü, E , Aydin, HI , Coskun, T (2 more authors)
AMERICAN JOURNAL OF HEMATOLOGY Volume 83 | 2008

WOS.SCI 0
In vitro efficacy of N-octyl-4-epi-beta-valienamine (NOEV) in a patient with infantile GM1 gangliosidosis

Hi, A , Kalkanoglu, S , Lay, I , Tokatli, A , Coskun, T (5 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 31 | 2008

WOS.SCI 1
Argininosuccinic aciduria associated with pancreatitis

Dursun, A , Sivri, HS , Özon, A , Akcaören, Z , Tokatly, A (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 31 | 2008

WOS.SCI 0
The effect of passive smoking on serum antioxidant vitamin (A, E, C) levels of breastfed and non-breastfed infants

Hizli, S , Yilmaz, G , Karacan, C , Coskun, T
ACTA PAEDIATRICA Volume 97 | 2008

WOS.SCI 0
Renal function in twenty seven children with methylmalonic acidemia (MMA): Is there a good marker?

Aydin, HI , Duzova, A , Kalkanoglu, S , Dursun, A , Aksoy, T (5 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 31 | 2008

WOS.SCI 11 DOI PM
Neonatal non-ketotic hyperglycinemia: Report of five cases

Demirel, N , Bas, AY , Zenciroglu, A , Aydemir, C , Kalkanoglu, S (1 more authors)
PEDIATRICS INTERNATIONAL Volume 50 | 2008

WOS.SCI 24 PM
Two new cases with Pearson syndrome and review of Hacettepe experience

Topaloglu, R , Lebre, AS , Demirkaya, E , Kuskonmaz, B , Coskun, T (3 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 50 | 2008

WOS.SCI 22 DOI PM
Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?

Ozel, HG , Kucukkasap, T , Kucukkasap Comert, Tugba , Koksal, G , Sivri, HS (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 31 | 2008

WOS.SCI 0
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots:: A 2 years experience

Zurflüh, MR , Ozen, I , Demirkol, M , Fiori, L , Giovannini, M (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 30 | 2007

WOS.SCI 5 DOI PM
Serum zinc levels in children with acute gastroenteritis

Ölmez, A , Yalçin, SS , Yalçin, SS , Coskun, T
PEDIATRICS INTERNATIONAL Volume 49 | 2007

WOS.ISTP,WOS.SCI 4 DOI PM
A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings

Aliefendioglu, D , Dursun, A , Coskun, T , Akçören, Z , Wanders, RJA (1 more authors)
EUROPEAN JOURNAL OF PEDIATRICS Volume 166 | 2007

WOS.SCI 16 DOI PM
Audiologic findings in children with biotinidase deficiency in Turkey

Genc, GA , Sivri Kalkanoglu, HS , Dursun, A , Aydin, HI , Tokatli, A (4 more authors)
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY Volume 71 | 2007

WOS.SCI 0 DOI PM
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents

YETGIN, S , Aytac, S , Kalkanoglu, S , Coskun, T , Ortmann, C (2 more authors)
PEDIATRIC HEMATOLOGY AND ONCOLOGY Volume 24 | 2007

WOS.SCI,WOS.ISTP 0
Molecular basis of cystinosis in Turkish patients

Topaloglu, R , Tinloy, B , Coskun, T , Gunay-Aygun, M , Jeong, A (6 more authors)
NEPHROLOGY DIALYSIS TRANSPLANTATION Volume 22 | 2007

WOS.SCI 7 PM
Assessment of tetrahydrobiopterin-responsiveness in Turkish hyperphenylalaninemic patients

Yildirim, S , Tokatli, A , YILMAZ, E , Coskun, T
TURKISH JOURNAL OF PEDIATRICS Volume 49 | 2007

WOS.SCI 0
Molecular genetics of maple syrup urine disease (MSUD) in Turkish patients

Gorzelany, K , Dursun, A , Coskun, T , Gökcay, GF , Demirkol, M (1 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 30 | 2007

WOS.SCI 9 PM
Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient

Tokatli, A , Kalkanoglu-Sivri, HS , Yüce, A , Coskun, T
TURKISH JOURNAL OF PEDIATRICS Volume 49 | 2007

WOS.SCI 0
Severe proximal renal tubular acidosis in Pearson syndrome

Demirkaya, E , Topaloglu, R , Rötig, A , Coskun, T , Topaloglu, H (2 more authors)
PEDIATRIC NEPHROLOGY Volume 22 | 2007

WOS.SCI 0
New molecular findings in Turkish cystinosis patients

Topaloglu, R , Tinloy, B , Coskun, T , Gunay-Aygun, M , Jeong, A (5 more authors)
PEDIATRIC NEPHROLOGY Volume 22 | 2007

WOS.SCI 0
Dysmorpology in patients with pyridoxine-dependent seizures and mutations of the antiquitin (ALDH7A1) gene

Topcu, M , Haliloglu, G , Karli, OK , Struys, E , Salomons, G (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 30 | 2007

WOS.SCI 0
Turkish experience on the epidemiology of organic acidurias

Demirkol, M , Kalkanoglu-Sivri, HS , Tumer, L , Aktuglu, C , Coker, M (8 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 29 | 2006

WOS.SCI 0
Basal ganglia involvement in childhood: Creatine deficiency syndrome caused by guanidinoacetate methyltransferase (GAMT) deficiency

Haliloglu, G , Dursun, A , Oguz, KK , Yalnyzoglu, D , Aydin, HI (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 29 | 2006

WOS.ISTP,WOS.SCI 2
Comprehensive analysis reveals distinct mtDNA features in Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (MNGIE)

Kocaefe, C , Özdamar, SE , Sivri, HS , Coskun, T , Tan, E (1 more authors)
NEUROMUSCULAR DISORDERS Volume 16 | 2006

WOS.SCI 0
Psychiatric symptoms of mothers of children with phenylketonuria

Dursun Soncag, A , Sivri Kalkanoglu, HS , Cuhadaroglu, F , Dursun, A , Aydin, HI (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 29 | 2006

WOS.SCI 0
Pyridoxine-dependent seizures

Topcu, M , Haliloglu, G , Karli, OK , Struys, E , Salomons, G (2 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 29 | 2006

WOS.SCI 0 DOI PM
Plasma free carnitine levels in 0-12-month-old infants in relation to feeding styles

Hizel, S , Kiliç, FK , Sanli, C , Coskun, T , Önal, S
INTERNATIONAL JOURNAL FOR VITAMIN AND NUTRITION RESEARCH Volume 76 | 2006

WOS.SCI 11 PM
The relationship between serum selenium levels and frequent wheeze in children

KOCABAS, CN , Adalioglu, G , Coskun, T , Tuncer, A , Sekerel, BE
TURKISH JOURNAL OF PEDIATRICS Volume 48 | 2006

WOS.SCI 15 DOI PM
The efficacy of liver transplantation in malignant liver tumors associated with tyrosinemia:: Clinical and laboratory findings of five cases

Büyükpamukçu, M , Varan, A , Haberal, M , Büyükpamukçu, N , Köksal, Y (5 more authors)
PEDIATRIC TRANSPLANTATION Volume 10 | 2006

WOS.SCI 217 DOI PM
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency

Kölker, S , Garbade, SF , Greenberg, CR , Leonard, JV , Saudubray, JM (25 more authors)
PEDIATRIC RESEARCH Volume 59 | 2006

WOS.SCI 13 DOI PM
Haematological findings in children with inborn errors of metabolism

Tavil, B , Sivri, HS , Coskun, T , Gürgey, A , Ozyurek, E (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 29 | 2006

WOS.SCI 0
L-2-hydroxyglutaric aciduria and brain tumors: Report of two patients with medulloblastoma and glioblastoma

Haliloglu, G , Celik, I , Karli, OK , Anlar, B , Ozisik, P (6 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 29 | 2006

WOS.SCI 0
Hearing loss in biotinidase deficiency: Preliminary results indicate genotype-phenotype correlation

Sivri Kalkanoglu, HS , Genc, GA , Sennaroglu, L , Aydin, HI , Dursun, A (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 29 | 2006

WOS.SCI 1 PM
Two cases of glycine encephalopathy accompanied by pes equinovarus

Zenciroglu, A , Demirel, N , Bas, AY , Aydemir, C , Agtldere, M (2 more authors)
JOURNAL OF CHILD NEUROLOGY Volume 20 | 2005

WOS.SCI 4 PM
Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease):: report of two cases

Türker, G , Hatun, S , Gülleroglu, K , Çizmecioglu, F , Gökalp, AS (2 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 47 | 2005

WOS.SCI 5 DOI PM
The effect of oral L-carnitine supplementation on the lipid profiles of hyperlipidaemic children

Günes, B , Yalçin, SS , Kalkanoglu, HS , Önol, S , Dursun, A (1 more authors)
ACTA PAEDIATRICA Volume 94 | 2005

WOS.SCI 5 PM
Four-month-old infant with focal segmental glomerulosclerosis and mitochondrial DNA deletion

Unal, S , Kalkanoglu, HS , Kocaefe, C , Gueer, S , Ozen, S (2 more authors)
JOURNAL OF CHILD NEUROLOGY Volume 20 | 2005

WOS.SCI 0
PYRUVATE DEHYDROGENASE DEFICIENCY DUE TO NOVEL AND KNOWN MUTATIONS IN THE E1 ALPHA SUBUNIT

Wibrand, F , Kalkanoglu, HS , Dursun, A , Tokatli, A , Coskun, T (5 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 28 | 2005

WOS.SCI 2 PM
Neurophysiologic features in glutaric aciduria type I

Yalnizoglu, D , Sari, N , Turanli, G , Coskun, T , TOPCU, M
TURKISH JOURNAL OF PEDIATRICS Volume 47 | 2005

WOS.SCI 0
IDENTIFICATION OF A MUTANT GENE C14ORF160 ON CHROMOSOME 14Q22.1 FOR L-2-HYDROXYGLUTARIC ACIDURIA

Topcu, M , Jobard, F , Halliez, S , Coskun, T , Yalcinkaya, Cengiz (7 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 28 | 2005

WOS.SCI 9 PM
Plasma carnitine levels in preterm infants with respiratory distress syndrome

Korkmaz, A , Tekinalp, G , Coskun, T , Yigit, S , YURDAKOK, M
PEDIATRICS INTERNATIONAL Volume 47 | 2005

WOS.SCI 15 PM
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage

Teksam, O , YURDAKOK, M , Coskun, T
JOURNAL OF CHILD NEUROLOGY Volume 20 | 2005

WOS.SCI 0
A NEWBORN WITH VLCAD DEFICIENCY CLINICAL, BIOCHEMICAL, AND HISTOPATHOLOGICAL FINDINGS

Aliefendioglu, D , Dursun, A , Coskun, T , Akçören, Z , Wanders, RJA
JOURNAL OF INHERITED METABOLIC DISEASE Volume 28 | 2005

WOS.SCI 7 PM
Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations

Saltik-Temizel, IN , Coskun, T , Yüce, A , Koçak, N
TURKISH JOURNAL OF PEDIATRICS Volume 47 | 2005

WOS.SCI 0
CARNITINE TOXICITY IN A PATIENT WITH LCHAD DEFICIENCY

Kalkanoglu, HS , Dursun, A , Aydin, HI , Tokatli, A , Spiekerkotter, U (6 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 28 | 2005

WOS.SCI 12 PM
Effect of topiramate on enlargement of head in Canavan disease:: a new option for treatment of megalencephaly

TOPCU, M , Yalnizoglu, D , Saatçi, I , Haliloglu, G , Topaloglu, H (3 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 46 | 2004

WOS.SCI 107 DOI PM
L-2-hydroxyglutaric aciduria:: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

Topcu, M , Jobard, F , Halliez, S , Coskun, T , Yalçinkayal, C (5 more authors)
HUMAN MOLECULAR GENETICS Volume 13 | 2004

WOS.SCI 9 PM
A boy with spastic paraparesis and Dyspnea

Kalkanoglu, HS , Dursun, A , Tokatli, A , Coskun, T , Karasimav, D (1 more authors)
JOURNAL OF CHILD NEUROLOGY Volume 19 | 2004

WOS.SCI 7 PM
Alpha-mannosidosis and mutational analysis in a Turkish patient

Ölmez, A , Nilssen, O , Klenow, H , Coskun, T
TURKISH JOURNAL OF PEDIATRICS Volume 45 | 2003

WOS.SCI 31 DOI PM
Relationship of leptin and insulin-like growth factor I to nutritional status in hemodialyzed children

Besbas, N , Ozaltin, F , Coskun, T , Özalp, S , Bakkaloglu, A (1 more authors)
PEDIATRIC NEPHROLOGY Volume 18 | 2003

WOS.SCI 30 DOI PM
Transient nonketotic hyperglycinemia:: Two case reports and literature review

Aliefendioglu, D , Aslan, AT , Coskun, T , Dursun, A , Kesimer, M
PEDIATRIC NEUROLOGY Volume 28 | 2003

WOS.SCI 66 DOI PM
Identification of 16 novel mutations in the arglininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

Gao, HZ , Kobayashi, K , Tabata, A , Tsuge, H , Iijima, M (30 more authors)
HUMAN MUTATION Volume 22 | 2003

WOS.SCI 12 PM
Biochemical and molecular analysis of mucopolysaccharidoses in Turkey

Emre, S , Terzioglu, M , Coskun, T , Tokatli, A , Özalp, I (2 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 44 | 2002

WOS.SCI 1 PM
Phenylketonuria and glycogen storage disease type III in sibs of one family

Yilmazer, T , van Gennip, AH , Abeling, NGGM , Özalp, I , Coskun, T (1 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 44 | 2002

WOS.SCI 14 PM
Serum carnitine levels of pediatric cancer patients

Yaris, N , Akyüz, C , Coskun, T , Büyükpamukçu, M
PEDIATRIC HEMATOLOGY AND ONCOLOGY Volume 19 | 2002

WOS.SCI 22 DOI PM
Molecular Analysis of Turkish Mucopolysaccharidosis IVA (Morquio A) Patients: Identification of Novel Mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) Gene

Terzioglu, M , Tokatli, A , Coskun, T , Emre, S
HUMAN MUTATION Volume 20 | 2002

WOS.SCI 11 PM
D-glyceric aciduria in a six-month-old boy presenting with west syndrome and autistic behaviour

Topcu, M , Saatci, I , Haliloglu, G , Kesimer, M , Coskun, T
NEUROPEDIATRICS Volume 33 | 2002

WOS.SCI 14 PM
Maple syrup urine disease:: Mutation analysis in Turkish patients

Dursun, A , Henneke, M , Ozgul, RK , Gartner, J , Coskun, T (5 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 25 | 2002

WOS.SCI 18 PM
Nutritional status of children with cancer and its effects on survival

Yaris, N , Akyüz, C , Coskun, T , Kutluk, T , Büyükpamukçu, M
TURKISH JOURNAL OF PEDIATRICS Volume 44 | 2002

WOS.SCI 5 PM
Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis

Kalkanoglu, HS , Romstad, A , Coskun, T , Güttler, F
PRENATAL DIAGNOSIS Volume 21 | 2001

WOS.ISTP,WOS.SCI 45 PM
Molybdenum cofactor deficiency: Report of three cases presenting as hypoxic-ischemic encephalopathy

Topcu, M , Coskun, T , Haliloglu, G , Saatci, I
JOURNAL OF CHILD NEUROLOGY Volume 16 | 2001

WOS.SCI 5 PM
Factor V Leiden mutation in Turkish patients with homozygous cystathionine β-synthase deficiency

Kalkanoglu, HS , Coskun, T , Aydogdu, S , Tokatli, A , Gurgey, A
JOURNAL OF INHERITED METABOLIC DISEASE Volume 24 | 2001

WOS.SCI 55 PM
Newborn PKU screening in Turkey:: at present and organization for future

Özalp, I , Coskun, T , Tokatli, A , Kalkanoglu, HS , Dursun, A (3 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 43 | 2001

WOS.SCI 5 PM
Molecular genetic anaylses of cystinuria type 1 in 24 Turkish patients

Dayangac-Erden, D , Kalkanoglu, HS , Durmus-Aydogdu, S , Erdem-Yurter, H , Besbas, N (1 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 43 | 2001

WOS.SCI 0
Identification of novel mutations in the cystinosin gene (CTNS) in patients with cystinosis.

Kiehntopf, M , Koch, HG , Coskun, T , Ozen, S , Deufel, T (1 more authors)
AMERICAN JOURNAL OF HUMAN GENETICS Volume 69 | 2001

WOS.SCI 5 PM
Low serum carnitine concentrations in healthy children with iron deficiency anemia

Cemeroglu, AP , KOCABAS, CN , Coskun, T , Gürgey, A
PEDIATRIC HEMATOLOGY AND ONCOLOGY Volume 18 | 2001

WOS.SCI 8 PM
Mutation analysis in Turkish patients with hereditary fructose intolerance

Dursun, A , Kalkanoglu, HS , Coskun, T , Tokatli, A , Bittner, R (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 24 | 2001

WOS.SCI 16 PM
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)

Romstad, A , Kalkanoglu, HS , Coskun, T , Demirkol, M , Tokatli, A (5 more authors)
HUMAN GENETICS Volume 107 | 2000

WOS.SCI 9 PM
Molecular basis of mild hyperphenylalaninaemia in Turkey

YILMAZ, E , Cali, F , Romano, V , Scavuzzo, Cataldo , Özalp, I (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 23 | 2000

WOS.SCI 39 PM
Novel mutations cause biotinidase deficiency in Turkish children

Pomponio, RJ , Coskun, T , Demirkol, M , Tokatli, A , Özalp, I (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 23 | 2000

WOS.SCI 3 PM
Phenylketonuria and cystic fibrosis in the same patient

Kalkanoglu, HS , Anadol, D , YILMAZ, E , Coskun, T
PEDIATRICS INTERNATIONAL Volume 42 | 2000

WOS.SCI,WOS.SSCI 0 PM
Neuroleptic malignant syndrome in a patient with citrullinaemia

Dursun, A , Özsari, M , Kandemir, N , Coskun, T
JOURNAL OF INHERITED METABOLIC DISEASE Volume 23 | 2000

WOS.SCI 8 PM
Genotype-phenotype correlation in dihydropteridine reductase deficiency

de Sanctis, L , Alliaudi, C , Spada, M , Farrugia, R , Cerone, R (7 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 23 | 2000

WOS.SCI 5 PM
Carnitinuria in rickets due to vitamin D deficiency

Dursun, A , Aliefendioglu, D , Özkan, B , Coskun, T
TURKISH JOURNAL OF PEDIATRICS Volume 42 | 2000

WOS.SCI 3 PM
Rehydration of moderately dehydrated children with transient glucose intolerance using rice oral rehydration solution

Yurdakök, K , Ozmert, EN , Yalçin, SS , Coskun, T
ACTA PAEDIATRICA Volume 88 | 1999

WOS.SCI 4 PM
Neurological crisis mimicking acute pancreatitis in tyrosinemia type I

Kalkanoglu, HS , Coskun, T
TURKISH JOURNAL OF PEDIATRICS Volume 41 | 1999

WOS.SCI 109 PM
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

Tyfield, L , Reichardt, J , Fridovich-Keil, J , Croke, DT , Elsas, LJ (8 more authors)
HUMAN MUTATION Volume 13 | 1999

WOS.SCI 1 PM
Guanosine triphosphate cyclohydrolase I deficiency -: A rare cause of hyperphenylalaninemia

Coskun, T , Karagöz, T , Kalkanoglu, S , Tokatli, A , Özalp, I (2 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 41 | 1999

WOS.SCI 30 PM
The effect of zinc-supplemented bread consumption on school children with asymptomatic zinc deficiency

Kiliç, L , OZALP, I , Coskun, T , Tokatli, A , Emre, S (3 more authors)
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION Volume 26 | 1998

WOS.SCI 11 PM
Citrullinemia -: Clinical experience with 23 cases

Tokatli, A , Coskun, T , Özalp, I
TURKISH JOURNAL OF PEDIATRICS Volume 40 | 1998

WOS.SCI 6 PM
Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency

Coskun, T , Yetük, M , YURDAKOK, M , TEKINALP, G
ACTA PAEDIATRICA Volume 87 | 1998

WOS.SCI 24 PM
Nutritional assessment of children on haemodialysis:: value of IGF-I, TNF-α and IL-1β

Besbas, N , Ozdemir, S , Saatci, U , Coskun, T , Ozen, S (3 more authors)
NEPHROLOGY DIALYSIS TRANSPLANTATION Volume 13 | 1998

WOS.SCI 58 PM
Delayed-onset profound biotinidase deficiency

Wolf, B , Pomponio, RJ , Norrgard, KJ , Lott, IT , Baumgartner, ER (5 more authors)
JOURNAL OF PEDIATRICS Volume 132 | 1998

WOS.SCI 10 PM
Isovaleric acidemia - Clinical presentation of 6 cases

Tokatli, A , Coskun, T , Özalp, I
TURKISH JOURNAL OF PEDIATRICS Volume 40 | 1998

WOS.SCI 13 PM
Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis

Olcay, L , Gümrük, F , Boduroglu, K , Coskun, T , Tuncbilek, E
JOURNAL OF INHERITED METABOLIC DISEASE Volume 21 | 1998

WOS.SCI 7 PM
Recurrent meningitis associated with congenital paravertebral dermal sinus tract

Andiran, N , Coskun, T , Ozaydin, E , Secmeer, G
TURKISH JOURNAL OF PEDIATRICS Volume 40 | 1998

WOS.SCI 14 PM
Hypophosphatemic vitamin-D resistant rickets associated with epidermal nevus syndrome - A case report

Tokatli, A , Coskun, T , OZALP, I
TURKISH JOURNAL OF PEDIATRICS Volume 39 | 1997

WOS.SCI 1 PM
Hypouricemia and molybdenum-cofactor deficiency

YURDAKOK, M , Coskun, T
JOURNAL OF PEDIATRICS Volume 130 | 1997

WOS.SCI 4 PM
Leprechaunism in two Turkish patients

Gurgey, A , Gogus, S , Saatci, U , Bilginturan, N , Yordam, N (3 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 39 | 1997

WOS.SCI 13 PM
Biotinidase deficiency with neurological features resembling multiple sclerosis

Tokatli, A , Coskun, T , Özalp, I
JOURNAL OF INHERITED METABOLIC DISEASE Volume 20 | 1997

WOS.SCI 8 PM
Acute pancreatitis in a patient with glutaric acidemia type II

Coskun, T , Gogus, S , Akçören, Z , Tokatli, A , OZALP, I
TURKISH JOURNAL OF PEDIATRICS Volume 39 | 1997

WOS.SCI 5 PM
Microcephaly in a hyperphenylalaninemic infant leading to the diagnosis of maternal hyperphenylalaninemia

Gungor, N , Tokatli, A , Coskun, T , OZGUC, M , Özalp, I
EUROPEAN JOURNAL OF PEDIATRICS Volume 155 | 1996

WOS.SCI 0 PM
Congenital rickets

OZSOYLU, S , Gurgey, A , Coskun, T
EUROPEAN JOURNAL OF PEDIATRICS Volume 155 | 1996

WOS.SCI 0
Microcephaly and maternal phenylketonuria - Reply

Gungor, N , Tokatli, A , Coskun, T , Özgüc, M , Özalp, I
EUROPEAN JOURNAL OF PEDIATRICS Volume 155 | 1996

WOS.SCI 16 PM
Anaesthetic management in maple syrup urine disease

Kahraman, S , Ercan, M , Akkus, O , Ercelen, O , Erdem, K (1 more authors)
ANAESTHESIA Volume 51 | 1996

WOS.SCI 36 PM
A case of Pearson syndrome associated with multiple renal cysts

Gürgey, A , Özalp, I , Rötig, A , Coskun, T , TEKINALP, G (4 more authors)
PEDIATRIC NEPHROLOGY Volume 10 | 1996

WOS.SCI 1 PM
Superior mesenteric artery syndrome - A case report

Tatar, G , Coskun, T , Simsek, H
TURKISH JOURNAL OF PEDIATRICS Volume 38 | 1996

WOS.SCI 8 PM
MUTATIONAL ANALYSIS OF TURKISH GALACTOSEMIA PATIENTS

Coskun, T , ERKUL, E , SEYRANTEPE, V , OZGUC, M , Tokatli, A (1 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 18 | 1995

WOS.SCI 15
NEONATAL PKU SCREENING IN TURKEY - 7 YEARS EXPERIENCE IN A DEVELOPING-COUNTRY

Özalp, I , Coskun, T , Tokatli, A , TOKOL, S , OZGUC, M (3 more authors)
SCREENING Volume 4 | 1995

WOS.SCI 3 PM
NONKETOTIC HYPERGLYCINEMIA IN A NEWBORN-INFANT

TEKINALP, G , Coskun, T , ORAN, O , OZALP, I , FIGEN, G (1 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 37 | 1995

WOS.SCI 1 PM
HYPOPHOSPHATASIA IN A NEWBORN-INFANT

TEKINALP, G , YUKSELEN, A , BALKANCI, F , Coskun, T , YURDAKOK, M
TURKISH JOURNAL OF PEDIATRICS Volume 37 | 1995

WOS.SCI 21 PM
2 MISSENSE MUTATIONS CAUSING TYROSINEMIA TYPE-1 WITH PRESENCE AND ABSENCE OF IMMUNOREACTIVE FUMARYLACETOACETASE

ROOTWELT, H , CHOU, J , GHAL, WA , BERGER, R , Coskun, T (2 more authors)
HUMAN GENETICS Volume 93 | 1994

WOS.SCI 30 PM
NOVEL SPLICE, MISSENSE, AND NONSENSE MUTATIONS IN THE FUMARYLACETOACETASE GENE CAUSING TYROSINEMIA TYPE-I

ROOTWELT, H , BERGER, R , GRAY, G , KELLY, DA , Coskun, T (1 more authors)
AMERICAN JOURNAL OF HUMAN GENETICS Volume 55 | 1994

WOS.SCI 4 PM
I-CELL DISEASE - A CASE-REPORT AND REVIEW OF THE LITERATURE

Gungor, N , Coskun, T , Akçören, Z , CAGLAR, M
TURKISH JOURNAL OF PEDIATRICS Volume 36 | 1994

WOS.SCI 13 PM
INFANTILE SPASMS AS THE INITIAL SYMPTOM OF BIOTINIDASE DEFICIENCY

KALAYCI, O , Coskun, T , Tokatli, A , ERDEM, G , GUNGOR, C (2 more authors)
JOURNAL OF PEDIATRICS Volume 124 | 1994

WOS.SCI 5 PM
AASE-SMITH SYNDROME - REPORT OF A NEW CASE WITH UNUSUAL FEATURES

YETGIN, S , BALCI, S , IRKEN, G , Coskun, T , SAY, B
TURKISH JOURNAL OF PEDIATRICS Volume 36 | 1994

WOS.ISTP,WOS.SCI 3 PM
GENETIC AND NEUROLOGICAL EVALUATION OF UNTREATED AND LATE-TREATED PATIENTS WITH PHENYLKETONURIA

Özalp, I , Coskun, T , OZGUC, M , Tokatli, A , YALAZ, K (3 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 17 | 1994

WOS.SCI 10 PM
INBORN-ERRORS OF BIOTIN METABOLISM - CLINICAL AND LABORATORY FEATURES OF 8 CASES

Coskun, T , Tokatli, A , OZALP, I
TURKISH JOURNAL OF PEDIATRICS Volume 36 | 1994

WOS.ISTP,WOS.SCI 0 PM
ASSOCIATION BETWEEN MUTATIONS AND THE VARIABLE NUMBER TANDEM REPEAT ALLELES IN A SAMPLE OF TURKISH PHENYLKETONURIA PATIENTS

OZGUC, M , YILMAZ, E , ERDEM, H , Coskun, T , Tokatli, A (1 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 17 | 1994

WOS.SCI 2 PM
CLASSICAL PHENYLKETONURIA ASSOCIATED WITH GOLDENHARS-SYNDROME - A CASE-REPORT

Tokatli, A , Coskun, T , KOCABAS, CN , OZALP, I , BALCI, S
TURKISH JOURNAL OF PEDIATRICS Volume 36 | 1994

WOS.SCI 4 PM
TYPE-I GLYCOGENOSIS WITH RENAL TUBULAR DYSFUNCTION - (PRESENTATION OF 2 CASES)

Yüce, A , Coskun, T , Koçak, N , OZSOYLU, S , OZALP, I (1 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 35 | 1993

WOS.SCI 0 PM
3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE DEFICIENCY

GUNEL, M , Coskun, T , Tokatli, A , Özalp, I
JOURNAL OF INHERITED METABOLIC DISEASE Volume 16 | 1993

WOS.SCI 45 PM
MUTATION ANALYSIS IN TURKISH PHENYLKETONURIA PATIENTS

OZGUC, M , Özalp, I , Coskun, T , YILMAZ, E , ERDEM, H (1 more authors)
JOURNAL OF MEDICAL GENETICS Volume 30 | 1993

WOS.SCI 4 PM
FREQUENCY OF THE IVS-10NT546 MUTATION IN 44 TURKISH PHENYLKETONURIA PATIENTS

OZGUC, M , OZALP, I , Coskun, T , YILMAZ, E , ERDEM, H (1 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 35 | 1993

WOS.SCI 1 PM
IMINOGLYCINURIA - A BENIGN TYPE OF INHERITED AMINOACIDURIA

Coskun, T , OZALP, I , Tokatli, A
TURKISH JOURNAL OF PEDIATRICS Volume 35 | 1993

WOS.ISTP,WOS.SCI 8 PM
HYPERPHENYLALANINEMIA DUE TO TETRAHYDROBIOPTERIN DEFICIENCY - A REPORT OF 16 CASES

Coskun, T , Özalp, I , Tokatli, A , Blau, N , NIEDERWIESER, A
JOURNAL OF INHERITED METABOLIC DISEASE Volume 16 | 1993

WOS.SCI 6 PM
NEUROPHYSIOLOGICAL STUDIES OF PATIENTS WITH CLASSICAL PHENYLKETONURIA - EVALUATION OF RESULTS OF IQ SCORES, EEG AND EVOKED-POTENTIALS

Coskun, T , TOPCU, M , USTUNDAG, I , OZALP, I , RENDA, Y (2 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 35 | 1993

WOS.SCI 3 PM
IS L-CARNITINE PROTECTIVE IN HYPOXIC CEREBRAL EDEMA IN NEWBORN MICE

YURDAKOK, M , HAZIROGLU, R , Coskun, T
TURKISH JOURNAL OF PEDIATRICS Volume 35 | 1993

WOS.SCI 10 PM
THE MAJOR PRESENTING SYMPTOM IN A BIOTINIDASE-DEFICIENT PATIENT - LARYNGEAL STRIDOR

Tokatli, A , Coskun, T , Özalp, I , GUNAY, M
JOURNAL OF INHERITED METABOLIC DISEASE Volume 15 | 1992

WOS.SCI 0 PM
NEUROBLASTOMA PRESENTING AS PROTEIN-LOSING ENTEROPATHY

Coskun, T , Özen, H , Büyükpamukçu, M , Kale, G
TURKISH JOURNAL OF PEDIATRICS Volume 34 | 1992

WOS.SCI 4 PM
BETA-KETOTHIOLASE DEFICIENCY - A CASE-REPORT

ALTINTAS, B , Tezic, T , Coskun, T , OZALP, I , KUKNER, S (1 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 34 | 1992

WOS.SCI 6 PM
INTUSSUSCEPTION DUE TO ECTOPIC PANCREATIC TISSUE IN A 9-MONTH-OLD CHILD

SALMAN, B , Besbas, N , Coskun, T , YILMAZBAYHAN, D , SARIALIOGLU, F
TURKISH JOURNAL OF PEDIATRICS Volume 34 | 1992

WOS.SCI 0 PM
PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS IN A TURKISH FAMILY

YILMAZ, E , OZGUC, M , Coskun, T , BEKSAC, S , CAKAR, N (2 more authors)
TURKISH JOURNAL OF PEDIATRICS Volume 33 | 1991

WOS.SCI 9 PM
TYPE-I HEREDITARY TYROSINEMIA - PRESENTATION OF 11 CASES

Coskun, T , Özalp, I , Koçak, N , Yüce, A , Caglar, M (1 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 14 | 1991

WOS.SCI 18 PM
VALPROATE-INDUCED LETHAL HYPERAMMONEMIC COMA IN A CARRIER OF ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY

Tokatli, A , Coskun, T , CATALTEPE, S , Özalp, I
JOURNAL OF INHERITED METABOLIC DISEASE Volume 14 | 1991

WOS.SCI 10 PM
15 YEARS EXPERIENCE WITH 212 HYPERAMMONEMIC CASES AT A METABOLIC UNIT

Tokatli, A , Coskun, T , Özalp, I
JOURNAL OF INHERITED METABOLIC DISEASE Volume 14 | 1991

WOS.SCI 4 PM
HEREDITARY FRUCTOSE INTOLERANCE IN A PATIENT WITH PHENYLKETONURIA

Coskun, T , OZALP, I , TEKINALP, G
TURKISH JOURNAL OF PEDIATRICS Volume 33 | 1991

WOS.SCI 56 PM
INHERITED METABOLIC DISORDERS IN TURKEY

Özalp, I , Coskun, T , TOKOL, S , DEMIRCIN, G , MONCH, E
JOURNAL OF INHERITED METABOLIC DISEASE Volume 13 | 1990

WOS.SCI 4 PM
SCLERODERMA-LIKE SKIN-LESIONS IN 2 PATIENTS WITH PHENYLKETONURIA

Coskun, T , OZALP, I , Kale, G , Gogus, S
EUROPEAN JOURNAL OF PEDIATRICS Volume 150 | 1990

WOS.SCI 7 PM
PRENATAL-DIAGNOSIS OF ATYPICAL PHENYLKETONURIA

BLAU, N , NIEDERWIESER, A , CURTIUS, HC , KIERAT, L , LEIMBACHER, W (12 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 12 | 1989

WOS.SCI 30 PM
DNA HAPLOTYPE ANALYSIS AT THE PHENYLALANINE-HYDROXYLASE LOCUS IN THE TURKISH POPULATION

LICHTERKONECKI, U , SCHLOTTER, M , YAYLAK, C , OZGUC, M , Coskun, T (5 more authors)
HUMAN GENETICS Volume 81 | 1989

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NONKETOTIC HYPERGLYCINEMIA - A REPORT OF 3 CASES

Coskun, T , OZALP, I , MONCH, E , Yalaz, K
TURKISH JOURNAL OF PEDIATRICS Volume 30 | 1988

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LETHAL HYPERAMMONEMIC COMA DUE TO ORNITHINE TRANSCARBAMYLASE DEFICIENCY PRESENTING AS BRAIN-STEM ENCEPHALITIS IN A PREVIOUSLY ASYMPTOMATIC 10-YEAR-OLD BOY

Coskun, T , Özalp, I , MONCH, S , KNEER, J
JOURNAL OF INHERITED METABOLIC DISEASE Volume 10 | 1987

WOS.SCI 29
INCIDENCE OF PHENYLKETONURIA AND HYPERPHENYLALANINEMIA IN A SAMPLE OF THE TURKISH NEWBORN POPULATION

Özalp, I , Coskun, T , CEYHAN, M , TOKOL, S , ORAN, O (4 more authors)
JOURNAL OF INHERITED METABOLIC DISEASE Volume 9 | 1986

WOS.SCI 27 PM
SODIUM-NITROPRUSSIDE TREATMENT IN ERYTHROMELALGIA

OZSOYLU, S , Coskun, T
EUROPEAN JOURNAL OF PEDIATRICS Volume 141 | 1984