Author:
Morath Marina A.,Hörster Friederike,Sauer Sven W.
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Reference50 articles.
1. Sniderman LC, Lambert M, Giguere R, Auray-Blais C, Lemieux B, Laframboise R, Rosenblatt DS, Treacy EP (1999) Outcome of individuals with low–moderate methylmalonic aciduria detected through a neonatal screening program. J Pediatr 134:675–680
2. Fenton WA, Gravel RA, Rosenblatt DS (2001) Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Valle AD (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 2165–2193
3. Dionisi-Vici C, Deodato F, Roschinger W, Rhead W, Wilcken B (2006) ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis 29:383–389
4. Radmanesh A, Zaman T, Ghanaati H, Molaei S, Robertson RL, Zamani AA (2008) Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature. Pediatr Radiol 38:1054–1061
5. Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER (2007) Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 62:225–230
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