(Q37434019)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

title

Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Olav Wendelboe Nielsen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

author name string

Jan Rasmussen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Lotte Risom

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Flemming Wibrand

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Hannes Gislason

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Morten Duno

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Lars Køber

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

language of work or name

1 reference

22 May 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism Reports

28 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

page(s)

241-248

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

Intestinal microbiota metabolism of L-carnitine, a nutrient in red meat, promotes atherosclerosis

28 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Genotype-phenotype correlation in primary carnitine deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Cardiomyopathy and carnitine deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Disorders of carnitine transport and the carnitine cycle

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Kinetics, pharmacokinetics, and regulation of L-carnitine and acetyl-L-carnitine metabolism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Carnitine: a nutritional, biosynthetic, and functional perspective

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Carnitine metabolism in human subjects I. Normal metabolism,

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Carnitine transporter deficiency in two Faeroese children

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Age-associated cardiomyopathy in heterozygous carrier mice of a pathological mutation of carnitine transporter gene, OCTN2.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121291

Six years' experience with carnitine supplementation in a patient with an inherited defective carnitine transport system

2 September 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.04.008

Expanded newborn screening identifies maternal primary carnitine deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.04.008

Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.04.008

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.04.008

Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.04.008

Pressure overload-induced cardiomyopathy in heterozygous carrier mice of carnitine transporter gene mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.04.008

10.1016/J.YMGMR.2014.04.008

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

PubMed publication ID

27896095

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27896095%20AND%20SRC:MED&resulttype=core&format=json