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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...
में बचाया:
| मुख्य लेखकों: | , , , , , , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
2006
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| विषय: | |
| ऑनलाइन पहुंच: | 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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