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