Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.

D'Annibale, Olivia M; Koppes, Erik A; Alodaib, Ahmad N; Kochersperger, Catherine; Karunanidhi, Anuradha; Mohsen, Al-Walid; Vockley, Jerry

D'Annibale, Olivia M; Koppes, Erik A; Alodaib, Ahmad N; Kochersperger, Catherine; Karunanidhi, Anuradha; Mohsen, Al-Walid; Vockley, Jerry.

Afiliação

D'Annibale OM; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA.
Koppes EA; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Alodaib AN; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA; Department of Clinical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, R
Kochersperger C; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Karunanidhi A; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Mohsen AW; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA.
Vockley J; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA.

Mol Genet Metab ; 134(1-2): 29-36, 2021.

Article em En | MEDLINE | ID: mdl-34535384

Assuntos

Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico; Variação Genética; Isovaleril-CoA Desidrogenase/deficiência; Isovaleril-CoA Desidrogenase/genética; Mutação; Triagem Neonatal/métodos; Células HEK293; Humanos; Técnicas In Vitro; Recém-Nascido; Isovaleril-CoA Desidrogenase/classificação; Modelos Biológicos; Técnicas de Diagnóstico Molecular; Triagem Neonatal/normas; Espectrometria de Massas em Tandem

Palavras-chave

Isovaleric acidemia; Isovaleryl-CoA dehydrogenase; Newborn screening; Organic acidemia; Variants of uncertain significance

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Triagem Neonatal / Isovaleril-CoA Desidrogenase / Erros Inatos do Metabolismo dos Aminoácidos / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Mol Genet Metab Ano de publicação: 2021 Tipo de documento: Article

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