Celia J. Angaroni

Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation)

Raquel Dodelson de Kremer, Ana Paschini-Capra, Sandra R. Bacman et al. · American Journal of Medical Genetics · 2001 · 21 citations

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

Belén Pérez, Celia J. Angaroni, Rocío Sánchez-Alcudia et al. · Journal of Inherited Metabolic Disease · 2010 · 19 citations · Full text

Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene

Celia J. Angaroni, Philippe Labrune, François Petit et al. · Molecular Genetics and Metabolism · 2006 · 14 citations

Glycosylation, Genetic Disorder, Genetics +10

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

S. Ruíz, José Antonio Arranz, Johannes Häberle et al. · Orphanet Journal of Rare Diseases · 2019 · 14 citations · Full text

Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability

Celia J. Angaroni, Raquel Dodelson de Kremer, Carlos E. Argaraña et al. · Molecular Genetics and Metabolism · 2004 · 13 citations

Protein Stability, Biochemistry, Genetics +6