Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation

Background: Primary carnitine deficiency (PCD) is a disorder of fatty acid oxidation with a high prevalence in the Faroe Islands. Only patients homozygous for the c.95A>G (p.N32S) mutation have displayed severe symptoms in the Faroese patient cohort. In this study, we investigated carnitine level...

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Main Authors: Rasmussen, J., Thomsen, J. A., Olesen, J. H., Lund, T. M., Mohr, M., Clementsen, J., Nielsen, O. W., Lund, A. M.
Format: Text
Language:English
Published: Springer Berlin Heidelberg 2015
Subjects:
Article
Faroe Islands
Online Access:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375125
http://www.ncbi.nlm.nih.gov/pubmed/25665836
https://doi.org/10.1007/8904_2014_398
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spelling ftpubmed:oai:pubmedcentral.nih.gov:4375125 2023-05-15T16:10:37+02:00 Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation Rasmussen, J. Thomsen, J. A. Olesen, J. H. Lund, T. M. Mohr, M. Clementsen, J. Nielsen, O. W. Lund, A. M. 2015-02-10 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375125 http://www.ncbi.nlm.nih.gov/pubmed/25665836 https://doi.org/10.1007/8904_2014_398 en eng Springer Berlin Heidelberg http://www.ncbi.nlm.nih.gov/pmc/articles/PMC http://www.ncbi.nlm.nih.gov/pubmed/25665836 http://dx.doi.org/10.1007/8904_2014_398 © SSIEM and Springer-Verlag Berlin Heidelberg 2014 Article Text 2015 ftpubmed https://doi.org/10.1007/8904_2014_398 2015-04-05T00:12:09Z Background: Primary carnitine deficiency (PCD) is a disorder of fatty acid oxidation with a high prevalence in the Faroe Islands. Only patients homozygous for the c.95A>G (p.N32S) mutation have displayed severe symptoms in the Faroese patient cohort. In this study, we investigated carnitine levels in skeletal muscle, plasma, and urine as well as renal elimination kinetics before and after intermission with l-carnitine in patients homozygous for c.95A>G. Text Faroe Islands PubMed Central (PMC) Faroe Islands 103 111
institution Open Polar
collection PubMed Central (PMC)
op_collection_id ftpubmed
language English
topic Article
spellingShingle Article
Rasmussen, J.
Thomsen, J. A.
Olesen, J. H.
Lund, T. M.
Mohr, M.
Clementsen, J.
Nielsen, O. W.
Lund, A. M.
Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation
topic_facet Article
description Background: Primary carnitine deficiency (PCD) is a disorder of fatty acid oxidation with a high prevalence in the Faroe Islands. Only patients homozygous for the c.95A>G (p.N32S) mutation have displayed severe symptoms in the Faroese patient cohort. In this study, we investigated carnitine levels in skeletal muscle, plasma, and urine as well as renal elimination kinetics before and after intermission with l-carnitine in patients homozygous for c.95A>G.
format Text
author Rasmussen, J.
Thomsen, J. A.
Olesen, J. H.
Lund, T. M.
Mohr, M.
Clementsen, J.
Nielsen, O. W.
Lund, A. M.
author_facet Rasmussen, J.
Thomsen, J. A.
Olesen, J. H.
Lund, T. M.
Mohr, M.
Clementsen, J.
Nielsen, O. W.
Lund, A. M.
author_sort Rasmussen, J.
title Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation
title_short Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation
title_full Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation
title_fullStr Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation
title_full_unstemmed Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation
title_sort carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of l-carnitine supplementation
publisher Springer Berlin Heidelberg
publishDate 2015
url http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375125
http://www.ncbi.nlm.nih.gov/pubmed/25665836
https://doi.org/10.1007/8904_2014_398
geographic Faroe Islands
geographic_facet Faroe Islands
genre Faroe Islands
genre_facet Faroe Islands
op_relation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC
http://www.ncbi.nlm.nih.gov/pubmed/25665836
http://dx.doi.org/10.1007/8904_2014_398
op_rights © SSIEM and Springer-Verlag Berlin Heidelberg 2014
op_doi https://doi.org/10.1007/8904_2014_398
container_start_page 103
op_container_end_page 111
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