Your browser doesn't support javascript.
loading
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.
Riley, Lisa G; Cowley, Mark J; Gayevskiy, Velimir; Roscioli, Tony; Thorburn, David R; Prelog, Kristina; Bahlo, Melanie; Sue, Carolyn M; Balasubramaniam, Shanti; Christodoulou, John.
Afiliação
  • Riley LG; Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, KRI, Level 3, Locked Bag 4001, Westmead, NSW, 2145, Australia. lisa.riley@health.nsw.gov.au.
  • Cowley MJ; Discipline of Paediatrics & Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. lisa.riley@health.nsw.gov.au.
  • Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Roscioli T; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Thorburn DR; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Prelog K; St Vincent's Clinical School, University of New South Wales, Sydney, Australia.
  • Bahlo M; Department of Medical Genetics, Sydney Children's Hospital, Randwick, Australia.
  • Sue CM; Murdoch Childrens Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, Australia.
  • Balasubramaniam S; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Christodoulou J; Medical Imaging Department, The Children's Hospital at Westmead, Sydney, NSW, Australia.
J Inherit Metab Dis ; 40(2): 261-269, 2017 03.
Article em En | MEDLINE | ID: mdl-27995398
Assuntos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Doenças Mitocondriais / Proteínas de Transporte de Cátions / Manganês Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Female / Humans / Infant Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Austrália País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Doenças Mitocondriais / Proteínas de Transporte de Cátions / Manganês Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Female / Humans / Infant Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Austrália País de publicação: Estados Unidos