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Celia Angaroni

Research Profile

Geographic Areas

Argentina

Disorders

Physiology

Procedures

DNA Mutational Analysis

Chemicals & Drugs

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Publications

TOP 3
Laura Elena Laróvere; Silene M Silvera Ruiz; Celia J Angaroni; Raquel Dodelson de Kremer
Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection.
Celia J Angaroni; Alicia N Giner-Ayala; Lorena P Hill; Norberto B Guelbert; Ana E Paschini-Capra; Raquel Dodelson de Kremer
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
Laura Elena Laróvere; Celia J Angaroni; Sandra L Antonozzi; Miriam B Bezard; Mariko Shimohama; Raquel Dodelson de Kremer
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.

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All Publications

2012: Laura Elena Laróvere; Silene M Silvera Ruiz; Celia J Angaroni; Raquel Dodelson de Kremer
Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection.
JIMD reports 2012;6():27-9.
2010: Celia J Angaroni; Alicia N Giner-Ayala; Lorena P Hill; Norberto B Guelbert; Ana E Paschini-Capra; Raquel Dodelson de Kremer
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
Journal of inherited metabolic disease 2010;33(Suppl 2):S289-94.
2009: Laura Elena Laróvere; Celia J Angaroni; Sandra L Antonozzi; Miriam B Bezard; Mariko Shimohama; Raquel Dodelson de Kremer
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.
Clinical biochemistry 2009;42(10-11):1166-8.
2006: Celia J Angaroni; Philippe Labrune; François Petit; Dario Sastre; Ana E Capra; Raquel Dodelson de Kremer; Carlos E Argaraña
Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene.
Molecular genetics and metabolism 2006;88(1):96-9.
2004: Celia J Angaroni; Raquel Dodelson de Kremer; Carlos E Argaraña; Ana Paschini-Capra; Alicia N Giner-Ayala; Roberto J Pezza; Chi-Jiunn Pan; Janice Yang Chou
Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.
Molecular genetics and metabolism 2004;83(3):276-9.
2001: Raquel Dodelson de Kremer; Ana Paschini-Capra; S Bacman; Carlos E Argaraña; Gabriel Civallero; Richard I Kelley; Norberto Guelbert; Alexandra Latini; Inés Noher de Halac; A Giner-Ayala; J Johnston; R Proujansky; I Gonzalez; Catalina Depetris-Boldini; A Oller-Ramírez; Celia J Angaroni; R A Theaux; E Hliba; E Juaneda
Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).
American journal of medical genetics 2001;99(2):83-93.
1997: Raquel Dodelson de Kremer; A Paschini de Capra; Celia J Angaroni; A Giner de Ayala
[Plasma chitotriosidase activity in Argentinian patients with Gaucher disease, various lysosomal diseases and other inherited metabolic disorders].
Medicina 1997;57(6):677-84.