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Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Forny, Patrick; Footitt, Emma; Davison, James E; Lam, Amanda; Woodward, Cathy E; Batzios, Spyros; Bhate, Sanjay; Chakrapani, Anupam; Cleary, Maureen; Gissen, Paul; Grunewald, Stephanie; Hurst, Jane A; Scott, Richard; Heales, Simon; Jacques, Thomas S; Cullup, Thomas; Rahman, Shamima.
Afiliación
  • Forny P; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Footitt E; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Davison JE; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Lam A; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Woodward CE; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Batzios S; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Bhate S; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Chakrapani A; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Cleary M; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Gissen P; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Grunewald S; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Hurst JA; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Scott R; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Heales S; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Jacques TS; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Cullup T; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
  • Rahman S; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospi
Neurol Genet ; 7(3): e597, 2021 Jun.
Article en En | MEDLINE | ID: mdl-34056100
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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Neurol Genet Año: 2021 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Neurol Genet Año: 2021 Tipo del documento: Article