Abstract
Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of: glucose transporter 2 (GLUT2) gene.
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Kapsamı
Uluslararası
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Type
Hakemli
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Index info
WOS.SCI
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Language
English
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Article Type
None