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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Bibliografische gegevens
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2006
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Article
Online toegang: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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