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EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.
Balasubramaniam, Shanti; Riley, Lisa G; Vasudevan, Anand; Cowley, Mark J; Gayevskiy, Velimir; Sue, Carolyn M; Edwards, Caitlin; Edkins, Edward; Junckerstorff, Reimar; Kiraly-Borri, C; Rowe, P; Christodoulou, J.
Afiliación
  • Balasubramaniam S; Department of Rheumatology and Metabolic Medicine, Princess Margaret Hospital, Perth, WA, Australia. saras329@hotmail.com.
  • Riley LG; Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia. saras329@hotmail.com.
  • Vasudevan A; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. saras329@hotmail.com.
  • Cowley MJ; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. saras329@hotmail.com.
  • Gayevskiy V; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
  • Sue CM; Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, KRI, Sydney, NSW, Australia.
  • Edwards C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.
  • Edkins E; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Junckerstorff R; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Kiraly-Borri C; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Rowe P; Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney, Royal North Shore Hospital, Sydney, NSW, Australia.
  • Christodoulou J; PathWest Laboratory Medicine WA, Section of Diagnostic Genomics, QEII Medical Centre, Nedlands, WA, Australia.
JIMD Rep ; 42: 19-29, 2018.
Article en En | MEDLINE | ID: mdl-29159459
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: JIMD Rep Año: 2018 Tipo del documento: Article País de afiliación: Australia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: JIMD Rep Año: 2018 Tipo del documento: Article País de afiliación: Australia