Search Results - Angaroni, Celia J

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  1. 1
    Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

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

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  2. 2
    Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook

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

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  3. 3
    Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection

    Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection by Laróvere, Laura E., Ruiz, Silene M. Silvera, Angaroni, Celia J., de Kremer, Raquel Dodelson

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  4. 4
    Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene

    Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene by Angaroni, Celia J., Labrune, Philippe, Petit, François, Sastre, Dario, Capra, Ana E., de Kremer, Raquel Dodelson, Argaraña, Carlos E.

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  5. 5
    Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability

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

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  6. 6
    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

    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 by Laróvere, Laura E., Angaroni, Celia J., Antonozzi, Sandra L., Bezard, Miriam B., Shimohama, Mariko, Dodelson de Kremer, Raquel

    Published in Clinical biochemistry
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  7. 7
    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

    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 cluste... by Larovere, Laura E, Angaroni, Celia J, Antonozzi, Sandra L, Bezard, Miriam B, Shimohama, Mariko, De Kremer, Raquel Dodelson

    Published in Clinical biochemistry
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  8. 8
    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

    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 by Laróvere, Laura E, Angaroni, Celia J, Antonozzi, Sandra L, Bezard, Miriam B, Shimohama, Mariko, de Kremer, Raquel Dodelson

    Published in Clinical biochemistry
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  9. 9
    Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation)

    Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation) by De Kremer, Raquel Dodelson, Paschini-Capra, Ana, Bacman, Sandra, Argaraña, Carlos, Civallero, Gabriel, Kelley, Richard I., Guelbert, Norberto, Latini, Alexandra, de Halac, Inés Noher, Giner-Ayala, Alicia, Johnston, Jennifer, Proujansky, Roy, Gonzalez, Iris, Depetris-Boldini, Catalina, Oller-Ramírez, Ana, Angaroni, Celia, Theaux, Ricardo A., Hliba, Ernesto, Juaneda, Ernesto

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