Propionic Acidemia and Optic Neuropathy: A Report of Two Cases

Author:

Arias Carolina,Raimann Erna,Peredo Pilar,Cabello Juan Francisco,Castro Gabriela,Valiente Alf,de la Parra Alicia,Bravo Paulina,Okuma Cecilia,Cornejo Verónica

Publisher

Springer International Publishing

Reference19 articles.

1. Cornejo V, Raimann E (2010) Errores innatos del metabolismo de los aminoacidos. In: Colombo M, Cornejo V, Raimann E (eds) Errores innatos en el metabolismo del niño. Santiago de Chile, Editorial Universitaria, pp 71–138

2. de Baulny HO, Benoist JF, Rigal O, Touati G, Rabier D et al (2005) Methylmalonic and propionic acidemias: management and outcome. J Inherit Metab Dis 28:415–423

3. Dionisi-Vici C, Deodato F, Röschinger 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. Gallego-Villar L, Pérez Cerda C, Pérez B, Abia D, Ugarte M et al (2012) Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia. J Inherit Metab Dis ISSN 1573–2665, DOI 10.1007/s10545-012-9545-3

5. Gerth C, Morel CF, Feigenbaum A, Levin AV (2008) Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. J AAPOS 12:591–596

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