+90 216 456 82 12

Dr. Gamze Şarbat
Dr. Gamze Şarbat

Ad Soyad : GAMZE ŞARBAT

Unvan : Dr.

Tıbbi Birim : Çocuk Sağlığı ve Hastalıkları

Uzmanlık : Çocuk Sağlığı ve Hastalıkları

Şube : Maslak Hastanesi

E-Posta : gamze.sarbat@acibadem.com.tr

Web Sitesi : 

 

EĞİTİM
1994 İstanbul Üniversitesi İstanbul Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları
1989 İstanbul Üniversitesi İstanbul Tıp Fakültesi

İŞ DENEYİMİ
2010 - Halen Acıbadem Sağlık Grubu
1999 - 2000 The University of Illinois at Chicago Genetic and Metabolism Department of Pediatrics
1994 - 2001 İstanbul Üniversitesi İstanbul Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Beslenme ve Metabolizma Bilim Dalı

ÜYELİKLER
İstanbul Tabip Odası

YABANCI DİLLER
İngilizce

BİLİMSEL YAYINLAR
The molecular basis of glycogen storage disease type Ia.
J Biol Chem 277 (7): 5047-5053 (2002) Shieh JJ, Terzioğlu M, Hiraiwa H, et al.

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
Eur J Pediatr 161: S10-S19 Suppl. 1 OCT (2002) Matern D, Seydewitz HH, Bali D, et al.

The catalytic center of glucose-6-phosphatase-HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.
J Biol Chem 277 (36): 32837-32842 (2002) Ghosh A, Shieh JJ, Pan CJ, et al.

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.
Eur J Pediatr 160 (5): 277-282 (2001) Moslinger D, Stockler-Ipsiroglu S, Scheibenreiter S, et al.

Glucose-6-phosphatase gene mutation in Turkish patients with glycogen storage disease type Ia.
Journal of Inherited Metabolic Disease 24 (8): 881-882 (2001) Terzioğlu M, Emre S, Ozen H, et al.

Molecular genetics of type I glycogen storage disease.
Mol Genet Metab 73 (2): 117-125 (2001) Janecke AR, Mayatepek E, Utermann G.

. Novel mutations cause biotinidase deficiency in Turkish children.
Journal of Inherited Metabolic Disease 23 (2): 120-128 (2000) Pomponio RJ, Coskun T, Demirkol M, et al.

Glycogen storage disease type Ia: recent experience with mutation analysis a summary of mutations reported in the literature and a newly developed diagnostic flowchart.
Eur J Pediatr 159 (5): 322-330 (2000) Rake JP, ten Berge AM, Visser G, et al.

Heterogeneous mutation in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.
Am J Med Genet 92 (2): 90-94 (2000) Takahashi K, Akanuma J, Matsubara Y, et al.

Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6- phosphatase gene.
J Inherit Metab Dis 21: 445-446 (1998) Hüner G, Podskarbi T, Schütz M, Baykal T, Şarbat G, Shin YS, Demirkol M.

Incidence of biotinidase deficiency in Turkish newborns.
T, Huner G, Sarbat G, et al. Acta Paediatrica 87 (10): 1102-1103 (1998)

Five years experience in newborn screening for biotinidase deficiency in Istanbul.
Enzyme Protein 49: 186-187 (1996) Demirkol M, Baykal T, Hüner G, Şarbat G, İnce Z, Cantez T.

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