(Q43803903)

27 November 2017

Phenotype and genotype variation in primary carnitine deficiency (English)

1 reference

27 November 2017

Wang Y

1

1 reference

27 November 2017

Korman SH

2

1 reference

27 November 2017

Ye J

3

1 reference

27 November 2017

Gargus JJ

4

1 reference

27 November 2017

Gutman A

5

1 reference

27 November 2017

Taroni F

6

1 reference

27 November 2017

Garavaglia B

7

1 reference

27 November 2017

Longo N

8

1 reference

27 November 2017

language of work or name

English

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publication date

1 November 2001

1 reference

27 November 2017

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27 November 2017

3

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27 November 2017

6

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27 November 2017

387-392

1 reference

https://scigraph.springernature.com/pub.10.1097/00125817-200111000-00002

27 November 2017

0 references

cites work

Primary and secondary alterations of neonatal carnitine metabolism.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200111000-00002

10.1097/00125817-200111000-00002

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

27 November 2017

0 references

1 reference