New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches-Reference-Cited by-同舟云学术

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

Published:2021-03-29 Issue:4 Volume:44 Page:903-915
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12371

Reference45 articles.

1. A Deficiency of Carnitine–Acylcarnitine Translocase in the Inner Mitochondrial Membrane

2. Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation

3. Disorders of carnitine transport and the carnitine cycle

4. Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle

5. Carnitine?acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects

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