Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach-Reference-Cited by-同舟云学术

Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach

Published:2022-02-03 Issue:3 Volume:45 Page:386-405
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Crefcoeur Loek L.¹²^ORCID,Visser Gepke¹²,Ferdinandusse Sacha²,Wijburg Frits A.³,Langeveld Mirjam⁴,Sjouke Barbara⁴

Affiliation:

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

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

3. Emma's Children's Hospital, Amsterdam UMC location Academic Medical Center University of Amsterdam Amsterdam The Netherlands

4. Department of Endocrinology and Metabolism, Amsterdam UMC location Academic Medical Center University of Amsterdam Amsterdam The Netherlands

Funder

ZonMw

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12475

Reference70 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. Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle

4. Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

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