Associated Papers
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.
Welsink-Karssies MM et al.
Brain Communications, 2020
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
30275481 (PubMed )
Supplement: 41431_2018_253_MOESM10_ESM.xlsx › Sheet1
Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions.
Colhoun HO et al.
Orphanet Journal of Rare Diseases, 2018
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
Viggiano E et al.
Gene, 2015
Identification of novel mutations in classical galactosemia.
Bosch AM et al.
Human Mutation, 2005
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
Classic galactosemia in the differential diagnosis of neonatal low gammaglutamyltransferase cholestasis.
Staut T et al.
Acta Gastro-enterologica Belgica, 0
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