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Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.
Poquérusse, Jessie; Nolan, Melinda; Thorburn, David R; Van Hove, Johan L K; Friederich, Marisa W; Love, Donald R; Taylor, Juliet; Powell, Christopher A; Minczuk, Michal; Snell, Russell G; Lehnert, Klaus; Glamuzina, Emma; Jacobsen, Jessie C.
Afiliação
  • Poquérusse J; School of Biological Sciences The University of Auckland Auckland New Zealand.
  • Nolan M; Centre for Brain Research The University of Auckland Auckland New Zealand.
  • Thorburn DR; Department of Neurology Starship Children's Health Auckland New Zealand.
  • Van Hove JLK; Murdoch Children's Research Institute Melbourne Victoria Australia.
  • Friederich MW; Department of Paediatrics The University of Melbourne Melbourne Victoria Australia.
  • Love DR; Department of Pediatrics, School of Medicine University of Colorado Anschutz Medical Campus Aurora Colorado USA.
  • Taylor J; Department of Pathology and Laboratory Medicine Children's Hospital Colorado Aurora Colorado USA.
  • Powell CA; Department of Pediatrics, School of Medicine University of Colorado Anschutz Medical Campus Aurora Colorado USA.
  • Minczuk M; Department of Pathology and Laboratory Medicine Children's Hospital Colorado Aurora Colorado USA.
  • Snell RG; Diagnostic Genetics LabPLUS, Auckland City Hospital Auckland New Zealand.
  • Lehnert K; Present address: Division Chief, Pathology Genetics Sidra Medicine Doha Qatar.
  • Glamuzina E; Genetic Health Service New Zealand Auckland City Hospital Auckland New Zealand.
  • Jacobsen JC; MRC Mitochondrial Biology Unit University of Cambridge Cambridge UK.
JIMD Rep ; 64(3): 223-232, 2023 May.
Article em En | MEDLINE | ID: mdl-37151360
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2023 Tipo de documento: Article