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S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism
We report studies of a Croatian boy, a proven case of human S-adenosylhomocysteine (AdoHcy) hydrolase deficiency. Psychomotor development was slow until his fifth month; thereafter, virtually absent until treatment was started. He had marked hypotonia with elevated serum creatine kinase and transami...
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
National Academy of Sciences
2004
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC384724/ https://ncbi.nlm.nih.gov/pubmed/15024124 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0400658101 |
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