The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: A possible cause for poor long-term prognosis in classic galactosemia
- 31 December 2005
- journal article
- Published by Elsevier in Medical Hypotheses
- Vol. 65 (6) , 1051-1057
- https://doi.org/10.1016/j.mehy.2005.06.025
Abstract
No abstract availableKeywords
This publication has 21 references indexed in Scilit:
- A woman with untreated galactosaemiaThe Lancet, 2003
- INSIGHTS INTO THE PATHOGENESIS OF GALACTOSEMIAAnnual Review of Nutrition, 2003
- Clinical features of galactokinase deficiency:A review of the literatureJournal of Inherited Metabolic Disease, 2003
- GALT deficiency causes UDP-hexose deficit in human galactosemic cellsGlycobiology, 2003
- Large-scale molecular screening for galactosemia alleles in a pan-ethnic populationHuman Genetics, 2001
- Biochemical monitoring of treatment for galactosaemia: Biological variability in metabolite concentrationsJournal of Inherited Metabolic Disease, 1999
- Molecular and Biochemical Basis of GalactosemiaMolecular Genetics and Metabolism, 1998
- The fundamental importance of human galactose metabolism: lessons from genetics and biochemistryTrends in Genetics, 1998
- Schwann cell changes induced as early as one week after galactose intoxication.Acta Neuropathologica, 1997
- Molecular heterogeneity of classical and duarte galactosemia: Mutation analysis by denaturing gradient gel electrophoresisHuman Mutation, 1997