Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population.
Çelik M et al.
Journal of Tropical Pediatrics, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia.
Li L et al.
Frontiers in Pediatrics, 2020
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
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
27005423 (PubMed )
Supplement: supp_ddw091_SupplementaryInformation.pdf
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
Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.
Suzuki M et al.
Human Genetics, 2001
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
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