S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-010-9171-x
Reference17 articles.
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3. Arredonondo-Vega FX, Charlton JA, Edwards YH, Hopkinson DA, Whitehouse DB (1989) Isozyme and DNA analysis of human S-adenosyl-L-homocysteine hydrolase (AHCY). Ann Hum Genet 53:157–167
4. Augoustides-Savvopoulou P, Luka Z, Karyda S et al (2003) Glycine N-methyltransferase deficiency: a new patient with a novel mutation. J Inherit Metab Dis 26:745–759
5. Baric I, Fumic K, Glenn B et al (2004) S-Adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism. Proc Natl Acad Sci USA 101:4234–4239
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