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MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.
Broeks, Melissa H; Shamseldin, Hanan E; Alhashem, Amal; Hashem, Mais; Abdulwahab, Firdous; Alshedi, Tarfa; Alobaid, Iman; Zwartkruis, Fried; Westland, Denise; Fuchs, Sabine; Verhoeven-Duif, Nanda M; Jans, Judith J M; Alkuraya, Fowzan S.
Afiliação
  • Broeks MH; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands.
  • Shamseldin HE; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 12713, Saudi Arabia.
  • Alhashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, 11159, Saudi Arabia.
  • Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 12713, Saudi Arabia.
  • Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 12713, Saudi Arabia.
  • Alshedi T; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 12713, Saudi Arabia.
  • Alobaid I; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 12713, Saudi Arabia.
  • Zwartkruis F; Department of Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.
  • Westland D; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands.
  • Fuchs S; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands.
  • Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands.
  • Jans JJM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands. J.J.M.Jans@umcutrecht.nl.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 12713, Saudi Arabia. falkuraya@kfshrc.edu.sa.
Hum Genet ; 138(11-12): 1247-1257, 2019 Dec.
Article em En | MEDLINE | ID: mdl-31538237
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Ácido Aspártico / Malato Desidrogenase / Malatos / Doenças Metabólicas Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Ácido Aspártico / Malato Desidrogenase / Malatos / Doenças Metabólicas Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article