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Search Results - Bezard, Miriam
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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
Published in
Orphanet journal of rare diseases
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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
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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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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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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Clinical Biochemistry
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Orphanet Journal Of Rare Diseases
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Citrullinemia - Genetics
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Female
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Humans
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Infant, Newborn
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Male
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Mutation - Genetics
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Amino Acid Substitution - Genetics
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Argentina
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Argentina - Epidemiology
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Argininosuccinate Lyase Deficiency
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Argininosuccinate Synthase - Genetics
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Argininosuccinate Synthetase
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Argininosuccinate Synthetase Deficiency
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Argininosuccinic Aciduria - Epidemiology
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Argininosuccinic Aciduria - Genetics
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Argininosuccinic Aciduria - Pathology
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Child, Preschool
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Citrullinemia - Enzymology
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Sciencedirect Journals
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Sciencedirect Freedom Collection 2022-2024
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Doaj Directory Of Open Access Journals
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Road: Directory Of Open Access Scholarly Resources
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