Doktor GAMZE ŞARBAT

EĞİTİM

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

İŞ DENEYİMİ

2010 - Halen Acıbadem Sağlık Grubu
2010 - 2018 Maslak Acıbadem Hastanesi Genel Pediatri
2006 - 2009 Etiler Acıbadem Tıp Merkezi Sağlam Çocuk ve Genel Pediatri
2000 - 2006 Kadıköy Acıbadem Hastanesi Genel Pediatri
1999 - 2000 The University of Illinois at Chicago Genetic and Metabolism Department of Pediatrics
1998 - 1999 Chicago Illinois Üniversitesi Çocuk Metabolizma Hastalıkları
1994 - 2001 İstanbul Üniversitesi İstanbul Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Beslenme ve Metabolizma Bilim Dalı Başasistanlık
1989 - 1994 İstanbul Üniversitesi İstanbul Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Uzmanlığı
1983 - 1989 İstanbul Üniversitesi İstanbul Tıp Fakültesi Tıp Doktorluğu

ÜYELİKLER

İstanbul Tabip Odası

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.