Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation-Reference-Cited by-同舟云学术

Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation

Published:2022-11-09 Issue:1 Volume:64 Page:35-41
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Louis Lebreton¹^ORCID,Margaux Gaschignard²^ORCID,Claire Guibet¹^ORCID,Delphine Lamireau²,Sandrine Roche²^ORCID,Emmanuel Richard¹³^ORCID,Cécile Ged¹³^ORCID,Samir Mesli¹,Isabelle Redonnet‐Vernhet¹⁴^ORCID

Affiliation:

1. Laboratoire de Biochimie Pôle de Biologie et Pathologie, CHU de Bordeaux Bordeaux France

2. Hôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux Bordeaux France

3. INSERM BRIC U1312 Université de Bordeaux Bordeaux France

4. lNSERM MRGM U1211 Université de Bordeaux Bordeaux France

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12346

Reference31 articles.

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2. Olpin S.Systemic primary carnitine deficiency; Orphanet encyclopedia. Accessed February 2014.https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=158.

3. Genetic Epidemiology of the Carnitine Transporter OCTN2 Gene in a Japanese Population and Phenotypic Characterization in Japanese Pedigrees with Primary Systemic Carnitine Deficiency

4. Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning

5. Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands

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