The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry
- 1 March 1998
- journal article
- review article
- Published by Elsevier in Trends in Genetics
- Vol. 14 (3) , 98-102
- https://doi.org/10.1016/s0168-9525(97)01379-6
Abstract
No abstract availableKeywords
This publication has 21 references indexed in Scilit:
- Characterization of Two Mutations Associated with Epimerase-Deficiency Galactosemia, by Use of a Yeast Expression System for Human UDP-Galactose-4-EpimeraseAmerican Journal of Human Genetics, 1997
- Molecular heterogeneity of classical and duarte galactosemia: Mutation analysis by denaturing gradient gel electrophoresisHuman Mutation, 1997
- A Mouse Model of Galactose-1-Phosphate Uridyl Transferase DeficiencyBiochemical and Molecular Medicine, 1996
- A prevalent mutation for galactosemia among black AmericansThe Journal of Pediatrics, 1996
- Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiencyHuman Mutation, 1996
- Follicle-Stimulating Isohormones: Characterization and Physiological RelevanceEndocrine Reviews, 1995
- Cloning of the galactokinase cDNA and identification of mutations in two families with cataractsNature Genetics, 1995
- On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT)Human Genetics, 1994
- Genetic basis of galactosemiaHuman Mutation, 1992
- Newborn screening for galactosemia and other galactose metabolic defectsThe Journal of Pediatrics, 1978