Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome.

Alharbi, Hana; Hong, Xinying; Ritter, Alyssa; Ahrens-Nicklas, Rebecca; Master, Stephen R; He, Miao

Alharbi, Hana; Hong, Xinying; Ritter, Alyssa; Ahrens-Nicklas, Rebecca; Master, Stephen R; He, Miao.

Afiliação

Alharbi H; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.
Hong X; Department of Pediatrics, University of Tabuk, Tabuk, Saudi Arabia.
Ritter A; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.
Ahrens-Nicklas R; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.
Master SR; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.
He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.

Clin Chem ; 68(2): 365-367, 2022 02 01.

Article em En | MEDLINE | ID: mdl-35104856

Assuntos

Síndrome de Barth; Erros Inatos do Metabolismo; Glutaratos; Humanos

Palavras-chave

3-methylglutaconic acid; 3-methylglutarate; 3methylglutaconic aciduria; Barth syndrome; cardiomyopathy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Barth / Erros Inatos do Metabolismo Limite: Humans Idioma: En Revista: Clin Chem Assunto da revista: QUIMICA CLINICA Ano de publicação: 2022 Tipo de documento: Article

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