Associated Papers
Clinical and genetic features of Classic Galactosemia in the south of Brazil.
Simão Medeiros L et al.
Molecular Genetics and Metabolism, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.
Itai T et al.
Hgg Advances, 2024
Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report.
Lin J et al.
Bmc Infectious Diseases, 2024
Spectrum of Common and Rare Small Molecule Inborn Errors of Metabolism Diagnosed in a Tertiary Care Center of Maharashtra, India.
Tamrakar A et al.
Cureus, 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
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.
Garcia DF et al.
Bmc Medical Genetics, 2016
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
Coelho AI et al.
Journal of Inherited Metabolic Disease, 2014
Modifiers of ovarian function in girls and women with classic galactosemia.
Spencer JB et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.
Milánkovics I et al.
Wiener Klinische Wochenschrift, 2010
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
Carney AE et al.
Human Molecular Genetics, 2009
A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family.
Chhay JS et al.
Journal of Inherited Metabolic Disease, 2008
Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air.
Barbouth DS et al.
Pediatric Research, 2007
Mutational spectrum of classical galactosaemia in Spain and Portugal.
Gort L et al.
Journal of Inherited Metabolic Disease, 2006
Molecular analysis in newborns from Texas affected with galactosemia.
Yang YP et al.
Human Mutation, 2002
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).
Kozák L et al.
Human Mutation, 2000
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L et al.
Human Mutation, 1999
The molecular biology of galactosemia.
Elsas LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0