Associated Papers
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.
Kalay I et al.
Annals of Human Genetics, 2023
Co-Occurring Atypical Galactosemia and Wilson Disease.
Doğulu N et al.
Molecular Syndromology, 2022
Expanded Phenotypic Spectrum or Multiple Syndromes?
Poot M
Molecular Syndromology, 2022
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.
Teke Kisa P et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Clinical, molecular, and genetic evaluation of galactosemia in Turkish children.
Atik SU et al.
Turk Pediatri Arsivi, 2016
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
Özgül RK et al.
Journal of Human Genetics, 2013
Identification of novel mutations in classical galactosemia.
Bosch AM et al.
Human Mutation, 2005
Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations.
Shin YS et al.
Bratislavske Lekarske Listy, 2004
Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.
Shin YS et al.
Journal of Inherited Metabolic Disease, 1999
Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.
Seyrantepe V et al.
Human Mutation, 1999
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L et al.
Human Mutation, 1999
Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.
Schuster V et al.
Journal of Molecular Medicine (berlin, Germany), 1998
Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells.
Shin YS et al.
Journal of Inherited Metabolic Disease, 1998
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
Shin YS et al.
European Journal of Pediatrics, 1996
Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.
Podskarbi T et al.
Journal of Inherited Metabolic Disease, 1996
Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.
Gathof BS et al.
Human Genetics, 1995
The molecular biology of galactosemia.
Elsas LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0