New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches

Author:

Ryder Bryony12,Inbar‐Feigenberg Michal1,Glamuzina Emma2,Halligan Rebecca34,Vara Roshni4,Elliot Aoife5,Coman David56,Minto Tahlee5,Lewis Katherine5,Schiff Manuel78,Vijay Suresh3,Akroyd Rhonda2,Thompson Sue910,MacDonald Anita3,Woodward Abigail J. M.11,Gribben Joanne. E. L.11,Grunewald Stephanie12,Belaramani Kiran13,Hall Madeleine14,Haak Natalie14,Devanapalli Beena9,Tolun Adviye Ayper9,Wilson Callum2,Bhattacharya Kaustuv910

Affiliation:

1. Division of Clinical and Metabolic Genetics The Hospital for Sick Children Toronto Ontario Canada

2. National Metabolic Service Starship Children's Hospital Auckland New Zealand

3. Department of Inherited Metabolic Disorders Birmingham Women's and Children's Hospital Foundation Trust Birmingham UK

4. Department of Metabolic Medicine Evelina Children's Hospital London UK

5. Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane QLD Australia

6. School of Medicine University of Queensland and Griffith University Brisbane Queensland Australia

7. Reference Centre for Inherited Metabolic Diseases, AP‐HP, Necker University Hospital University of Paris Paris France

8. INSERM U1163, Institut Imagine Paris France

9. Department of Metabolic Genetics Sydney Children's Hospitals' Network NSW Sydney New South Wales Australia

10. Faculty of Health and Medical Science University of Sydney Sydney New South Wales Australia

11. Department of Nutrition & Dietetics Evelina London Children's Hospital London UK

12. Metabolic Medicine Department, Great Ormond Street Hospital Institute of Child Health University College London, NIHR Biomedical Research Centre London UK

13. Department of Metabolic Medicine Hong Kong Children's Hospital Ngau Tau Kok Hong Kong

14. Departments of Metabolic Medicine & Nutrition Women's and Children's Hospital North Adelaide South Australia Australia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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