Primary carnitine deficiency is a life‐long disease-Reference-Cited by-同舟云学术

Primary carnitine deficiency is a life‐long disease

Published:2022-07-27 Issue:6 Volume:63 Page:524-528
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

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

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12319

Reference29 articles.

1. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

2. Molecular and Functional Identification of Sodium Ion-dependent, High Affinity Human Carnitine Transporter OCTN2

3. SLC22A5 (OCTN2) Carnitine Transporter—Indispensable for Cell Metabolism, a Jekyll and Hyde of Human Cancer

4. Disorders of carnitine transport and the carnitine cycle

5. Carnitine Deficiency Disorders in Children

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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