Subject
Genetics(clinical),Genetics
Reference24 articles.
1. Berry GT, Nissim I, Lin Z, Mazur AT, Gibson JB, Segal S (1995) Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet 346: 1073–1074.
2. Brusilow-SW (2001) Urea cycle enzymes. In: Scriver CR, Beaudet Al, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1909–1963.
3. Cederbaum SD, Koo-McCoy S, Tein I, et al (2002) Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol Genet Metab 77: 195–201.
4. Christensen E, Ribes A, Busquets C, et al (1997) Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion. J Inherit Metab Dis 20: 383–386.
5. Eng CM, Guffon N, Wilcox WR, et al (2001) International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 345: 9–16.
Cited by
15 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献