Associated Papers
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
A case report of classic galactosemia with a GALT gene variant and a literature review.
Wang YC et al.
Bmc Pediatrics, 2024
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Forte G et al.
International Journal of Molecular Sciences, 2023
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
High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia.
Li L et al.
Frontiers in Pediatrics, 2020
Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.
Ohlsson A et al.
Journal of Inherited Metabolic Disease, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.
Garcia DF et al.
Bmc Medical Genetics, 2016
Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.
Milánkovics I et al.
Wiener Klinische Wochenschrift, 2010
Mutational spectrum of classical galactosaemia in Spain and Portugal.
Gort L et al.
Journal of Inherited Metabolic Disease, 2006
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L et al.
Human Mutation, 1999
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
Greber-Platzer S et al.
Human Mutation, 1997
Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.
Hirokawa H et al.
European Journal of Human Genetics : Ejhg, 0
The molecular biology of galactosemia.
Elsas LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Outcomes analysis of verbal dyspraxia in classic galactosemia.
Robertson A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0