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Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening.
Peretz, Ryan H; Ah Mew, Nicholas; Vernon, Hilary J; Ganetzky, Rebecca D.
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  • Peretz RH; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
  • Ah Mew N; Rare Disease Institute, Children's National Hospital, Washington, DC, United States.
  • Vernon HJ; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
  • Ganetzky RD; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States. Electronic address: ganetzkyr@email.chop.edu.
Mol Genet Metab ; 134(1-2): 37-42, 2021.
Article en En | MEDLINE | ID: mdl-34176718
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad de Leigh / Pruebas Genéticas / Tamizaje Neonatal / Enfermedades Mitocondriales / ATPasas de Translocación de Protón Mitocondriales Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2021 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad de Leigh / Pruebas Genéticas / Tamizaje Neonatal / Enfermedades Mitocondriales / ATPasas de Translocación de Protón Mitocondriales Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2021 Tipo del documento: Article