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Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Bisschoff, Michelle; Smuts, Izelle; Dercksen, Marli; Schoonen, Maryke; Vorster, Barend C; van der Watt, George; Spencer, Careni; Naidu, Kireshnee; Henning, Franclo; Meldau, Surita; McFarland, Robert; Taylor, Robert W; Patel, Krutik; Fassad, Mahmoud R; Vandrovcova, Jana; Wanders, Ronald J A; van der Westhuizen, Francois H.
Afiliação
  • Bisschoff M; Focus area for Human Metabolomics, North-West University, Potchefstroom, South Africa.
  • Smuts I; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.
  • Dercksen M; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa.
  • Schoonen M; Focus area for Human Metabolomics, North-West University, Potchefstroom, South Africa.
  • Vorster BC; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa.
  • van der Watt G; Division of Chemical Pathology, National Health Laboratory Services, University of Cape Town, Cape Town, South Africa.
  • Spencer C; Division of Human Genetics, Department of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa.
  • Naidu K; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Stellenbosch, South Africa.
  • Henning F; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Stellenbosch, South Africa.
  • Meldau S; Division of Chemical Pathology, National Health Laboratory Services, University of Cape Town, Cape Town, South Africa.
  • McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Taylor RW; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.
  • Patel K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Fassad MR; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.
  • Vandrovcova J; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Wanders RJA; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Orphanet J Rare Dis ; 19(1): 15, 2024 Jan 14.
Article em En | MEDLINE | ID: mdl-38221620
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência Múltipla de Acil Coenzima A Desidrogenase Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans País/Região como assunto: Africa Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: África do Sul
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência Múltipla de Acil Coenzima A Desidrogenase Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans País/Região como assunto: Africa Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: África do Sul