(Q44647365)

English

Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2

scientific article published on January 1, 2003

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Statements

scholarly article

1 reference

Europe PubMed Central

5 December 2017

Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2 (English)

reason for preferred rank

most precise value

1 reference

10.1023/A:1025968502527

https://api.crossref.org/works/10.1023/A:1025968502527

30 March 2024

Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605509

30 March 2024

Organic Cation Transporter

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605509

30 March 2024

1 reference

10.1023/A:1025968502527

https://api.crossref.org/works/10.1023/A:1025968502527

30 March 2024

author name string

U. Spiekerkoetter

1

0000-0002-5385-6705

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605509

30 March 2024

G. Huener

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605509

30 March 2024

T. Baykal

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605509

30 March 2024

M. Demirkol

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605509

30 March 2024

M. Duran

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605509

30 March 2024

R. Wanders

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605509

30 March 2024

J. Nezu

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605509

30 March 2024

E. Mayatepek

8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605509

30 March 2024

language of work or name

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14605509

30 March 2024

publication date

1 January 2003

1 reference

Europe PubMed Central

5 December 2017

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1025968502527

1 reference

10.1023/A:1025968502527

https://api.crossref.org/works/10.1023/A:1025968502527

30 March 2024

https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1025968502527

1 reference

10.1023/A:1025968502527

https://api.crossref.org/works/10.1023/A:1025968502527

30 March 2024

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

5 December 2017

26

1 reference

Europe PubMed Central

5 December 2017

6

1 reference

Europe PubMed Central

5 December 2017

613-615

1 reference

Europe PubMed Central

5 December 2017

https://scigraph.springernature.com/pub.10.1023/a:1025968502527

0 references

Arginine 454 and lysine 370 are essential for the anion specificity of the organic anion transporter, rOAT3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14605509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14605509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Selectivity of the polyspecific cation transporter rOCT1 is changed by mutation of aspartate 475 to glutamate

1 reference

https://pubmed.ncbi.nlm.nih.gov/14605509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14605509

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/14605509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14605509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1025968502527

1 reference

Europe PubMed Central

5 December 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

5 December 2017

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