(Q37183587)

18 August 2017

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency (English)

1 reference

18 August 2017

Y Wang

1

1 reference

18 August 2017

J Ye

series ordinal

2

1 reference

18 August 2017

V Ganapathy

series ordinal

3

1 reference

18 August 2017

N Longo

series ordinal

4

1 reference

18 August 2017

language of work or name

English

0 references

publication date

1 March 1999

1 reference

Proceedings of the National Academy of Sciences of the United States of America

18 August 2017

1 reference

18 August 2017

96

1 reference

18 August 2017

5

1 reference

18 August 2017

2356-2360

1 reference

Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26788

Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26788

cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26788

Activation of glucose transport by a natural mutation in the human insulin receptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26788

Drug excretion mediated by a new prototype of polyspecific transporter

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26788

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26788

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26788

Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26788

Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26788

Primary and secondary carnitine deficiency syndromes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26788

Sudden neonatal death in carnitine transporter deficiency.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26788

Transport of carnitine into cells in hereditary carnitine deficiency

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26788

Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26788

Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation

3 September 2018

1 reference

12 December 2020

Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter

1 reference

12 December 2020

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

1 reference

12 December 2020

Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport

1 reference

12 December 2020

Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.96.5.2356

1 reference

18 August 2017

0 references

1 reference

18 August 2017

PubMed publication ID

10051646

1 reference