Associated Papers
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.
Almenabawy N et al.
Molecular Genetics and Metabolism Reports, 2024
Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.
Silver A et al.
Journal of Personalized Medicine, 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
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
Treacy EP et al.
Jimd Reports, 2021
The genetic basis of classical galactosaemia in Polish patients.
Jezela-Stanek A et al.
Orphanet Journal of Rare Diseases, 2021
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
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
Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.
Korner M et al.
Orphanet Journal of Rare Diseases, 2019
Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples.
Yuzyuk T et al.
The Journal of Applied Laboratory Medicine, 2018
Comprehensive genetic testing for female and male infertility using next-generation sequencing.
Patel B et al.
Journal of Assisted Reproduction and Genetics, 2018
Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.
Schulpis KH et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 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
Modifiers of ovarian function in girls and women with classic galactosemia.
Spencer JB et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.
Boutron A et al.
Molecular Genetics and Metabolism, 2012
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
Identification of novel mutations in classical galactosemia.
Bosch AM et al.
Human Mutation, 2005
Extended [13C]galactose oxidation studies in patients with galactosemia.
Berry GT et al.
Molecular Genetics and Metabolism, 2004
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency.
Berry GT et al.
Molecular Genetics and Metabolism, 2004
Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations.
Shin YS et al.
Bratislavske Lekarske Listy, 2004
Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
Berry GT et al.
Pediatric Research, 2000
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
Molecular and biochemical basis of galactosemia.
Wang BB et al.
Molecular Genetics and Metabolism, 1998
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
Elsas LJ et al.
American Journal of Human Genetics, 1995
A molecular approach to galactosemia.
Elsas LJ et al.
European Journal of Pediatrics, 1995
A common mutation associated with the Duarte galactosemia allele.
Elsas LJ et al.
American Journal of Human Genetics, 1994
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