2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.

Wongkittichote, Parith; Hong, Xinying; Master, Stephen R; Kaur, Shagun; Cuddapah, Sanmati R; He, Miao

Wongkittichote, Parith; Hong, Xinying; Master, Stephen R; Kaur, Shagun; Cuddapah, Sanmati R; He, Miao.

Afiliação

Wongkittichote P; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Hong X; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Master SR; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Kaur S; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.
Cuddapah SR; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: HeM@chop.edu.

Mol Genet Metab ; 138(4): 107549, 2023 04.

Article em En | MEDLINE | ID: mdl-36913764

Assuntos

Erros Inatos do Metabolismo dos Aminoácidos; Encefalopatias Metabólicas; Recém-Nascido; Humanos; Glutaril-CoA Desidrogenase; Creatinina; Estudos Retrospectivos; Encefalopatias Metabólicas/diagnóstico; Biomarcadores; Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico; Glutaratos

Palavras-chave

2-Methylglutaconic acid; Glutaric aciduria type I; Lysine catabolism; Newborn screening; Urine organic acid analysis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos

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