Publications by authors named "Celia Angaroni"

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Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Silene M Silvera-Ruiz, José A Arranz, Johannes Häberle, Celia J Angaroni, Miriam Bezard

Orphanet J Rare Dis· August 2019

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Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection.
Laura E Laróvere, Silene M Silvera Ruiz, Celia J Angaroni, Raquel Dodelson de Kremer

JIMD Rep· February 2013

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Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
Celia J Angaroni, Alicia N Giner-Ayala, Lorena P Hill, Norberto B Guelbert, Ana E Paschini-Capra

J Inherit Metab Dis· October 2010

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The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Belén Pérez, Celia Angaroni, Rocio Sánchez-Alcudia, Begoña Merinero, Celia Pérez-Cerdá

J Inherit Metab Dis· October 2010

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Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster.
Laura E Laróvere, Celia J Angaroni, Sandra L Antonozzi, Miriam B Bezard, Mariko Shimohama

Clin Biochem· July 2009

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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, Dario Sastre, Ana E Capra

Mol Genet Metab· May 2006

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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, Ana E Paschini-Capra, Alicia N Giner-Ayala

Mol Genet Metab· November 2004

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