Associated Papers
Single-nucleus and spatial transcriptomics of paediatric ovary: Molecular insights into the dysregulated signalling pathways underlying premature ovarian insufficiency in classic galactosemia.
Kavarthapu R et al.
Clinical and Translational Medicine, 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
Neonatal Cholestasis: The Changing Etiological Spectrum in Pakistani Children.
Bilal H et al.
Cureus, 2022
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele.
Crespo C et al.
Molecular Genetics and Metabolism Reports, 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
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
Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.
Viggiano E et al.
Clinical Genetics, 2018
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
Schadewaldt P et al.
Archives of Physiology and Biochemistry, 2014
Modifiers of ovarian function in girls and women with classic galactosemia.
Spencer JB et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Identification of novel mutations in classical galactosemia.
Bosch AM et al.
Human Mutation, 2005
Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
Berry GT et al.
Pediatric Research, 2000
Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.
Palmieri M et al.
Metabolism: Clinical and Experimental, 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
Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
Reichardt JK et al.
Biochemistry, 1992
Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.
Reichardt JK et al.
Genomics, 1992
The molecular biology of galactosemia.
Elsas LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0