Dr. Gamze Şarbat

The molecular basis of glycogen storage disease type Ia.

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Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

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The catalytic center of glucose-6-phosphatase-HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.

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Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.

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Glucose-6-phosphatase gene mutation in Turkish patients with glycogen storage disease type Ia.

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Molecular genetics of type I glycogen storage disease.

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. Novel mutations cause biotinidase deficiency in Turkish children.

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Glycogen storage disease type Ia: recent experience with mutation analysis a summary of mutations reported in the literature and a newly developed diagnostic flowchart.

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Heterogeneous mutation in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.

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Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6- phosphatase gene.

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Incidence of biotinidase deficiency in Turkish newborns.

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Five years experience in newborn screening for biotinidase deficiency in Istanbul.

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