Method modification to reduce false positives for newborn screening of guanidinoacetate methyltransferase deficiency.

Wojcik, Matthew; Morrissey, Mark; Borden, Kimberly; Teta, Bianca; Sicko, Robert; Showers, Amanda; Sunny, Sherly; Caggana, Michele

Wojcik, Matthew; Morrissey, Mark; Borden, Kimberly; Teta, Bianca; Sicko, Robert; Showers, Amanda; Sunny, Sherly; Caggana, Michele.

Afiliação

Wojcik M; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
Morrissey M; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA. Electronic address: mark.morrissey@health.ny.gov.
Borden K; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
Teta B; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
Sicko R; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
Showers A; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
Sunny S; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
Caggana M; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.

Mol Genet Metab ; 135(3): 186-192, 2022 03.

Article em En | MEDLINE | ID: mdl-35120844

Assuntos

Deficiência Intelectual; Transtornos dos Movimentos; Creatina; Guanidinoacetato N-Metiltransferase/deficiência; Guanidinoacetato N-Metiltransferase/genética; Humanos; Recém-Nascido; Transtornos do Desenvolvimento da Linguagem; Transtornos dos Movimentos/congênito; Transtornos dos Movimentos/diagnóstico; Triagem Neonatal/métodos; Convulsões; Espectrometria de Massas em Tandem/métodos

Palavras-chave

Cerebral creatine deficiency; Creatine; Guanidinoacetate; Guanidinoacetate methyltransferase deficiency; High-performance liquid chromatography; Newborn screening; Tandem mass spectrometry

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência Intelectual / Transtornos dos Movimentos Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos

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