Concepedia

Author

Celia J. Angaroni

Hospital de Niños de la Santísima Trinidad

Also Known As

C Angaroni, C J Angaroni, Celia Angaroni, Celia J. Angaroni, Celia Juana Angaroni

13

Publications

120

Citations

8

H-Index

10

Concepts

All Affiliations

Hospital de Niños de la Santísima TrinidadUniversidad Nacional de CórdobaResearch Centre in Biological Chemistry of CórdobaUniversidad Católica de Córdoba
CJ

About

Celia J. Angaroni is an author at Hospital de Niños de la Santísima Trinidad specializing in lysosomal storage disease, molecular genetics, and genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

2

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27

2

Molecular Genetics

2

2

27

3

Biochemistry

1

1

13

4

Diabetes

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13

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Molecular Biology

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1

14

Celia J. Angaroni

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8

Publications

114

Citations

8

H-Index

YearCitations

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,

American Journal of Medical Genetics

2001

21

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

Belén Pérez, Celia J. Angaroni, Rocío Sánchez-Alcudia,

Journal of Inherited Metabolic Disease

2010

19

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,

Molecular Genetics and Metabolism

2006

14

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

S. Ruíz, José Antonio Arranz, Johannes Häberle,

Orphanet Journal of Rare Diseases

2019

14

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,

Molecular Genetics and Metabolism

2004

13

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,

Clinical Biochemistry

2009

13

Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection

Laura E. Laróvere, S. Ruíz, Celia J. Angaroni,

JIMD Reports

2012

10

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 Giner-Ayala, Lorena P. Hill,

Journal of Inherited Metabolic Disease

2010

10

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