Improved standards for prenatal diagnosis of citrullinemia.

Miller, Marcus J; Soler-Alfonso, Claudia R; Grund, Jaime E; Fang, Ping; Sun, Qin; Elsea, Sarah H; Sutton, V Reid

Miller, Marcus J; Soler-Alfonso, Claudia R; Grund, Jaime E; Fang, Ping; Sun, Qin; Elsea, Sarah H; Sutton, V Reid.

Afiliação

Miller MJ; Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Soler-Alfonso CR; Department of Pediatrics, Division of Medical Genetics, University of Texas Health Science Center at Houston, TX, USA.
Grund JE; Good Samaritan Hospital, Cincinnati, OH, USA.
Fang P; Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Sun Q; Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Elsea SH; Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Sutton VR; Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Mol Genet Metab ; 112(3): 205-9, 2014 Jul.

Article em En | MEDLINE | ID: mdl-24889030

Assuntos

Citrulinemia/diagnóstico; Citrulinemia/genética; Diagnóstico Pré-Natal/métodos; Diagnóstico Pré-Natal/normas; Adulto; Líquido Amniótico/metabolismo; Argininossuccinato Sintase/genética; Argininossuccinato Sintase/metabolismo; Citrulina/metabolismo; Ativação Enzimática; Feminino; Feto/metabolismo; Humanos; Masculino; Mutação; Gravidez; Estudos Retrospectivos

Palavras-chave

Amniotic fluid; Argininosuccinate synthetase; Chorionic villus sampling; Citrullinemia; Prenatal diagnosis; Urea cycle disorder

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Citrulinemia Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2014 Tipo de documento: Article

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