L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency-Reference-Cited by-同舟云学术

L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency

Published:2018-09-13 Issue:12 Volume:103 Page:4580-4588
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Madsen Karen Lindhardt¹^ORCID,Preisler Nicolai¹^ORCID,Rasmussen Jan²,Hedermann Gitte¹^ORCID,Olesen Jess Have³,Lund Allan Meldgaard³,Vissing John¹^ORCID

Affiliation:

1. Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen, Denmark

2. Department of Internal Medicine, The National Hospital of the Faroe Islands, Tórshavn, Faroe Islands

3. Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark

Funder

Augustinus Fonden

Fonden til Lægevidenskabens Fremme

Rigshospitalet

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/103/12/4580/28678780/jc.2018-00953.pdf

Reference34 articles.

1. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter;Nezu;Nat Genet,1999

2. Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects;El-Hattab;Genet Med,2010

3. Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands;Rasmussen;J Inherit Metab Dis,2014

4. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism;Millington;J Inherit Metab Dis,1990

5. Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening;Lund;Mol Genet Metab,2012

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