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Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency.
Webb, Bryn D; Nowinski, Sara M; Solmonson, Ashley; Ganesh, Jaya; Rodenburg, Richard J; Leandro, Joao; Evans, Anthony; Vu, Hieu S; Naidich, Thomas P; Gelb, Bruce D; DeBerardinis, Ralph J; Rutter, Jared; Houten, Sander M.
Afiliação
  • Webb BD; Department of Pediatrics and Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States.
  • Nowinski SM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
  • Solmonson A; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
  • Ganesh J; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
  • Rodenburg RJ; Department of Metabolism and Nutritional Programming, Van Andel Institute, Grand Rapids, MI, United States.
  • Leandro J; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, United States.
  • Evans A; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
  • Vu HS; Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen, Netherlands.
  • Naidich TP; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
  • Gelb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
  • DeBerardinis RJ; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, United States.
  • Rutter J; Department of Radiology, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
  • Houten SM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Elife ; 122023 03 07.
Article em En | MEDLINE | ID: mdl-36881526
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Proteína de Transporte de Acila S-Maloniltransferase Tipo de estudo: Prognostic_studies Limite: Animals Idioma: En Revista: Elife Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Proteína de Transporte de Acila S-Maloniltransferase Tipo de estudo: Prognostic_studies Limite: Animals Idioma: En Revista: Elife Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos