Scientific work

Dr. Gamze Şarbat

12 publications. The source of the information is stated next to each publication.

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  1. The molecular basis of glycogen storage disease type Ia.

    Source: acibadem.com.tr profile page

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

    Source: acibadem.com.tr profile page

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

    Source: acibadem.com.tr profile page

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

    Source: acibadem.com.tr profile page

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

    Source: acibadem.com.tr profile page

  6. Molecular genetics of type I glycogen storage disease.

    Source: acibadem.com.tr profile page

  7. . Novel mutations cause biotinidase deficiency in Turkish children.

    Source: acibadem.com.tr profile page

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

    Source: acibadem.com.tr profile page

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

    Source: acibadem.com.tr profile page

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

    Source: acibadem.com.tr profile page

  11. Incidence of biotinidase deficiency in Turkish newborns.

    Source: acibadem.com.tr profile page

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

    Source: acibadem.com.tr profile page