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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Bibliografiske detaljer
Main Authors: 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
Sprog:Inglês
Udgivet: 2006
Fag:
Article
Online adgang: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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