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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Detalles Bibliográficos
Publicado en:AJNR Am J Neuroradiol
Autores principales: Rossi, Andrea, Cerone, Roberto, Biancheri, Roberta, Gatti, Rosanna, Schiaffino, Maria Cristina, Fonda, Claudio, Zammarchi, Enrico, Tortori-Donati, Paolo
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society of Neuroradiology 2001
Materias:
Pediatrics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7976836/
https://ncbi.nlm.nih.gov/pubmed/11237984
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