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New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
Ryder, Bryony; Inbar-Feigenberg, Michal; Glamuzina, Emma; Halligan, Rebecca; Vara, Roshni; Elliot, Aoife; Coman, David; Minto, Tahlee; Lewis, Katherine; Schiff, Manuel; Vijay, Suresh; Akroyd, Rhonda; Thompson, Sue; MacDonald, Anita; Woodward, Abigail J M; Gribben, Joanne E L; Grunewald, Stephanie; Belaramani, Kiran; Hall, Madeleine; van der Haak, Natalie; Devanapalli, Beena; Tolun, Adviye Ayper; Wilson, Callum; Bhattacharya, Kaustuv.
Affiliation
  • Ryder B; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Inbar-Feigenberg M; National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand.
  • Glamuzina E; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Halligan R; National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand.
  • Vara R; Department of Inherited Metabolic Disorders, Birmingham Women's and Children's Hospital Foundation Trust, Birmingham, UK.
  • Elliot A; Department of Metabolic Medicine, Evelina Children's Hospital, London, UK.
  • Coman D; Department of Metabolic Medicine, Evelina Children's Hospital, London, UK.
  • Minto T; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, Brisbane, QLD, Australia.
  • Lewis K; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, Brisbane, QLD, Australia.
  • Schiff M; School of Medicine University of Queensland and Griffith University, Brisbane, Queensland, Australia.
  • Vijay S; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, Brisbane, QLD, Australia.
  • Akroyd R; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, Brisbane, QLD, Australia.
  • Thompson S; Reference Centre for Inherited Metabolic Diseases, AP-HP, Necker University Hospital, University of Paris, Paris, France.
  • MacDonald A; INSERM U1163, Institut Imagine, Paris, France.
  • Woodward AJM; Department of Inherited Metabolic Disorders, Birmingham Women's and Children's Hospital Foundation Trust, Birmingham, UK.
  • Gribben JEL; National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand.
  • Grunewald S; Department of Metabolic Genetics, Sydney Children's Hospitals' Network NSW, Sydney, New South Wales, Australia.
  • Belaramani K; Faculty of Health and Medical Science, University of Sydney, Sydney, New South Wales, Australia.
  • Hall M; Department of Inherited Metabolic Disorders, Birmingham Women's and Children's Hospital Foundation Trust, Birmingham, UK.
  • van der Haak N; Department of Nutrition & Dietetics, Evelina London Children's Hospital, London, UK.
  • Devanapalli B; Department of Nutrition & Dietetics, Evelina London Children's Hospital, London, UK.
  • Tolun AA; Metabolic Medicine Department, Great Ormond Street Hospital, Institute of Child Health University College London, NIHR Biomedical Research Centre, London, UK.
  • Wilson C; Department of Metabolic Medicine, Hong Kong Children's Hospital, Ngau Tau Kok, Hong Kong.
  • Bhattacharya K; Departments of Metabolic Medicine & Nutrition, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
J Inherit Metab Dis ; 44(4): 903-915, 2021 07.
Article in En | MEDLINE | ID: mdl-33634872
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carnitine / Carnitine Acyltransferases / Diet, Fat-Restricted / Lipid Metabolism, Inborn Errors Type of study: Observational_studies Limits: Humans / Newborn Language: En Journal: J Inherit Metab Dis Year: 2021 Type: Article Affiliation country: Canada
Fulltext
Print
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PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carnitine / Carnitine Acyltransferases / Diet, Fat-Restricted / Lipid Metabolism, Inborn Errors Type of study: Observational_studies Limits: Humans / Newborn Language: En Journal: J Inherit Metab Dis Year: 2021 Type: Article Affiliation country: Canada