S-Adenosylhomocysteine hydrolase deficiency in a 26-year-old man

This paper reports the third proven human case of deficient S-adenosylhomocysteine (AdoHcy) hydrolase activity. The patient is similar to the only two previously reported cases with this disorder in having severe myopathy, developmental delay, elevated serum creatine kinase (CK) concentrations, and...

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Bibliografski detalji
Glavni autori: Buist, N. R. M., Glenn, B., Vugrek, O., Wagner, C., Stabler, S., Allen, R. H., Pogribny, I., Schulze, A., Zeisel, S. H., Barić, I., Mudd, S. H.
Format: Artigo
Jezik:Inglês
Izdano: 2006
Teme:
Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2430673/
https://ncbi.nlm.nih.gov/pubmed/16736098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-006-0240-0
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