Unexpected outcome in untreated galactosaemia
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference17 articles.
1. A woman with untreated galactosaemia;Lee;Lancet,2003
2. P. Schadewaldt, L. Kamalanathan, H.-W. Hammen, U. Wendel, Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients, Mol. Genet. Metab. (in press)
3. Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts;Yager;J. Inherit. Metab. Dis.,2001
4. Metabolism of 13C galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy;Wehrli;Mol. Genet. Metab.,2002
5. Liver galactose-1-phosphate uridyl transferase: activity in normal and galactosemic subjects;Segal;J. Clin. Invest.,1971
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1. Retracted: Brain Damage in Phenylalanine, Homocysteine and Galactose Metabolic Disorders;Metabolic Encephalopathy;2008-08-08
2. Classical galactosaemia revisited;Journal of Inherited Metabolic Disease;2006-07-11
3. An Updated Review of the Long-Term Neurological Effects of Galactosemia;Pediatric Neurology;2005-09
4. Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia;Molecular Genetics and Metabolism;2005-03
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