S-Adenosylhomocysteine hydrolase deficiency in a 26-year-old man
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-006-0240-0
Reference27 articles.
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2. Augoustides-Savvopoulou P, Luka Z, et al (2003) Glycine N-methyltransferase deficiency: a new patient with a novel mutation.J Inherit Metab Dis 26: 745–759.
3. Barić I, Fumić 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.
4. Barić I, Fumić K, Vugrek O, et al (2005a) S-Adenosylhomocysteine (AdoHcy) hydrolase deficiency: myopathy seems to be congenital.J Inherit Metab Dis 28(Suppl 1): 76.
5. Barić I, Ćuk M, Fumić K, et al (2005b) S-Adenosylhomocysteine hydrolase deficiency: a second patient and outcomes of therapy.J Inherit Metab Dis, 28: 885–902.
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