Article
Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program.
The Journal of pediatrics - 1 Jun 1999
Sniderman L C, Lambert M, Giguère R, Auray-Blais C, Lemieux B, Laframboise R, Rosenblatt D S, Treacy E P
Abstract excerpt
BACKGROUND: The clinical spectrum of methylmalonic aciduria (MMAuria) ranges from severe, neonatal acidosis to benign asymptomatic organic aciduria. In 1975, screening for MMAuria was established in the province of Quebec. Although newborn screening programs facilitate presymptomatic detection and treatment and also detect asymptomatic variants, uncertainties about potential long-term hazards of mild to moderate...
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