Primary carnitine deficiency is a life‐long disease

Author:

Crefcoeur Loek L.12ORCID,Melles Mireille C.3,Bruning Tobias A.3,Pereira Rob Rodrigues4,Langendonk Janneke G.5ORCID

Affiliation:

1. Department of Metabolic Diseases Wilhelmina Children's Hospital, University Medical Center Utrecht Utrecht Netherlands

2. Laboratory Genetic Metabolic Diseases Amsterdam UMC location Academic Medical Center, University of Amsterdam, Amsterdam Gastroenterology and Metabolism Amsterdam Netherlands

3. Department of Cardiology Maasstad Hospital Rotterdam Netherlands

4. Division of pediatrics Medical Center Kinderplein Rotterdam Netherlands

5. Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases Erasmus MC, University Medical Centre Rotterdam Rotterdam Netherlands

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. ANALYSIS OF SCIENTIFIC RESEARCH ON CLINICAL APPLICATIONS OF L-CARNITINE IN PEDIATRIC PRACTICE;Актуальні проблеми сучасної медицини: Вісник Української медичної стоматологічної академії;2023-12-20

2. Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval;Molecular Genetics and Metabolism;2023-12

3. A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene;Frontiers in Pediatrics;2023-06-06

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