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Article

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Pediatric research - 1 Aug 2007

Hörster Friederike, Baumgartner Matthias R, Viardot Caroline, Suormala Terttu, Burgard Peter, Fowler Brian, Hoffmann Georg F, Garbade Sven F, Kölker Stefan, Baumgartner E Regula

Abstract excerpt

Isolated methylmalonic acidurias comprise a heterogeneous group of inborn errors of metabolism caused by defects of methylmalonyl-CoA mutase (MCM) (mut0, mut-) or deficient synthesis of its cofactor 5'-deoxyadenosylcobalamin (AdoCbl) (cblA, cblB). The aim of this study was to compare the long-term outcome in patients from these four enzymatic subgroups. Eighty-three patients with isolated methylmalonic acidurias...

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Identifiers

PMID: 17597648
DOI: 10.1203/PDR.0b013e3180a0325f

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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