(Q44124701)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210323%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy (English)

1 reference

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12 November 2019

1 reference

2

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12 November 2019

Carlo Dionisi-Vici

12

1 reference

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12 November 2019

author name string

Anne-Marie Lamhonwah

1

1 reference

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12 November 2019

Rodney J Pollitt

3

1 reference

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12 November 2019

Christine Vianey-Saban

4

1 reference

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12 November 2019

Priscille Divry

5

1 reference

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12 November 2019

Nathalie Guffon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210323%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Guy T N Besley

7

1 reference

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12 November 2019

Russell Onizuka

8

1 reference

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12 November 2019

Linda J De Meirleir

9

1 reference

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12 November 2019

Ljerka Cvitanovic-Sojat

10

1 reference

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12 November 2019

Ivo Baric

11

1 reference

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12 November 2019

Ksenija Fumic

13

1 reference

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12 November 2019

Miljenka Maradin

14

1 reference

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12 November 2019

Ingrid Tein

15

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12 November 2019

publication date

1 August 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210323%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

12 November 2019

published in

1 reference

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12 November 2019

volume

111

1 reference

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12 November 2019

issue

3

1 reference

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12 November 2019

page(s)

271-284

1 reference

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12 November 2019

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

Carnitine--metabolism and functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

Structure of renal organic anion and cation transporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

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/10.1002%2FAJMG.10585

Carnitine deficiency induced by pivampicillin and pivmecillinam therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

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/10.1002%2FAJMG.10585

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

GFP-Human high-affinity carnitine transporter OCTN2 protein: subcellular localization and functional restoration of carnitine uptake in mutant cell lines with the carnitine transporter defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

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/10.1002%2FAJMG.10585

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/10.1002%2FAJMG.10585

Sudden neonatal death in carnitine transporter deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

The P-loop--a common motif in ATP- and GTP-binding proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

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/10.1002%2FAJMG.10585

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

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/10.1002%2FAJMG.10585

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

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/10.1002%2FAJMG.10585

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/10.1002%2FAJMG.10585

21 January 2018

Identifiers

DOI

10.1002/AJMG.10585

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210323%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference