(Q44200193)

English

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

scientific article published in November 2002

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Charles A Stanley

object named as

Charles Stanley

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author name string

Stephen D Cederbaum

1

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Europe PubMed Central

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30 November 2017

Samantha Koo-McCoy

2

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30 November 2017

Ingrid Tein

3

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30 November 2017

Betty Y L Hsu

4

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30 November 2017

Arupa Ganguly

5

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30 November 2017

Eric Vilain

6

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30 November 2017

Katrina Dipple

7

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30 November 2017

Ljerka Cvitanovic-Sojat

8

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30 November 2017

language of work or name

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publication date

1 November 2002

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30 November 2017

Molecular Genetics and Metabolism

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30 November 2017

77

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30 November 2017

3

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30 November 2017

195-201

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PubMed publication ID

30 November 2017

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Four-year treatment of systemic carnitine deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Primary systemic carnitine deficiency. II. Renal handling of carnitine

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

The human plasmalemmal carnitine transporter defect is expressed in cultured lymphoblasts: a new non-invasive method for diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Aberrant mRNA Splicing Associated with Coding Region Mutations in Children with Carnitine-Acylcarnitine Translocase Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900169-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1096-7192(02)00169-5

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

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