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Early-onset Combined Methylmalonic Aciduria and Homocystinuria: Neuroradiologic Findings
BACKGROUND AND PURPOSE: Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase and methionine synthase. Patients with the early-ons...
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| Pubblicato in: | AJNR Am J Neuroradiol |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society of Neuroradiology
2001
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7976836/ https://ncbi.nlm.nih.gov/pubmed/11237984 |
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