Article
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
Molecular genetics and metabolism - 1 Jul 2009
Cosson M A, Benoist J F, Touati G, Déchaux M, Royer N, Grandin L, Jais J P, Boddaert N, Barbier V, Desguerre I, Campeau P M, Rabier D, Valayannopoulos V, Niaudet P, de Lonlay P
Abstract excerpt
OBJECTIVE: To better delineate the natural history of patients with methylmalonic aciduria (MMA). STUDY DESIGN: Thirty patients with vitamin-B12-unresponsive MMA (25 aged 1.5 to 22.0 years (y) at the end of the study and 5 who died during a metabolic crisis) were managed following standardized guidelines and studied retrospectively. The median follow-up was 8.3 y (range: 1.4-19.5). Patients were investigated with...
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