Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings
Silvera-Ruiz, Silene M, Arranz, José A, Häberle, Johannes, Angaroni, Celia J, Bezard, Miriam, Guelbert, Norberto, Becerra, Adriana, Peralta, Fernanda, de Kremer, Raquel Dodelson, Laróvere, Laura E
Published in Orphanet journal of rare diseases (19.08.2019)
Published in Orphanet journal of rare diseases (19.08.2019)
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Journal Article
molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America
Pérez, Belén, Angaroni, Celia, Sánchez-Alcudia, Rocio, Merinero, Begoña, Pérez-Cerdá, Celia, Specola, N, Rodríguez-Pombo, P, Wajner, Moacir, de Kremer, Raquel Dodelson, Cornejo, Verónica, Desviat, Lourdes R, Ugarte, Magdalena
Published in Journal of inherited metabolic disease (01.10.2010)
Published in Journal of inherited metabolic disease (01.10.2010)
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Journal Article
Conference Proceeding
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook
Angaroni, Celia J, Giner-Ayala, Alicia N, Hill, Lorena P, Guelbert, Norberto B, Paschini-Capra, Ana E, de Kremer, Raquel Dodelson
Published in Journal of inherited metabolic disease (01.10.2010)
Published in Journal of inherited metabolic disease (01.10.2010)
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Journal Article
Conference Proceeding
Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection
Laróvere, Laura E., Ruiz, Silene M. Silvera, Angaroni, Celia J., de Kremer, Raquel Dodelson
Published in JIMD Reports - Case and Research Reports, 2012/3 (01.01.2012)
Published in JIMD Reports - Case and Research Reports, 2012/3 (01.01.2012)
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Book Chapter
Journal Article
Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene
Angaroni, Celia J., Labrune, Philippe, Petit, François, Sastre, Dario, Capra, Ana E., de Kremer, Raquel Dodelson, Argaraña, Carlos E.
Published in Molecular genetics and metabolism (01.05.2006)
Published in Molecular genetics and metabolism (01.05.2006)
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Journal Article
Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability
Angaroni, Celia J., de Kremer, Raquel Dodelson, Argaraña, Carlos E., Paschini-Capra, Ana E., Giner-Ayala, Alicia N., Pezza, Roberto J., Pan, Chi-Jiunn, Chou, Janice Y.
Published in Molecular genetics and metabolism (01.11.2004)
Published in Molecular genetics and metabolism (01.11.2004)
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Journal Article
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
Laróvere, Laura E., Angaroni, Celia J., Antonozzi, Sandra L., Bezard, Miriam B., Shimohama, Mariko, Dodelson de Kremer, Raquel
Published in Clinical biochemistry (01.07.2009)
Published in Clinical biochemistry (01.07.2009)
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Journal Article
Citrullinemia Type I, Classical Variant. Identification of A beta p.G390R (c.1168G > A) mutation in families of a limited geographic area of Argentina: A possible population cluster
Larovere, Laura E, Angaroni, Celia J, Antonozzi, Sandra L, Bezard, Miriam B, Shimohama, Mariko, De Kremer, Raquel Dodelson
Published in Clinical biochemistry (01.07.2009)
Published in Clinical biochemistry (01.07.2009)
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Journal Article
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
Laróvere, Laura E, Angaroni, Celia J, Antonozzi, Sandra L, Bezard, Miriam B, Shimohama, Mariko, de Kremer, Raquel Dodelson
Published in Clinical biochemistry (01.07.2009)
Published in Clinical biochemistry (01.07.2009)
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Journal Article
Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation)
De Kremer, R D, Paschini-Capra, A, Bacman, S, Argaraña, C, Civallero, G, Kelley, R I, Guelbert, N, Latini, A, Noher de Halac, I, Giner-Ayala, A, Johnston, J, Proujansky, R, Gonzalez, I, Depetris-Boldini, C, Oller-Ramírez, A, Angaroni, C, Theaux, R A, Hliba, E, Juaneda, E
Published in American journal of medical genetics (01.03.2001)
Published in American journal of medical genetics (01.03.2001)
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Journal Article