Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype (Q38078974)

28 August 2017

title

Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype (English)

1 reference

28 August 2017

K Shibbani

1

1 reference

28 August 2017

A C Fahed

2

1 reference

28 August 2017

L Al-Shaar

3

1 reference

28 August 2017

M Arabi

4

1 reference

28 August 2017

G Nemer

5

1 reference

28 August 2017

F Bitar

6

1 reference

28 August 2017

M Majdalani

7

1 reference

28 August 2017

publication date

12 March 2013

1 reference

28 August 2017

1 reference

28 August 2017

volume

85

1 reference

28 August 2017

issue

2

1 reference

28 August 2017

page(s)

127-137

1 reference

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

28 August 2017

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Phenotype and genotype variation in primary carnitine deficiency

21 January 2018

1 reference

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

21 January 2018

1 reference

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene

21 January 2018

1 reference

21 January 2018

1 reference

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

21 January 2018

1 reference

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients

21 January 2018

1 reference

OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation?

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Involvement of OCTN2 in the transport of acetyl-L-carnitine across the inner blood-retinal barrier

21 January 2018

1 reference

Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter

21 January 2018

1 reference

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

21 January 2018

1 reference

Skeletal muscle metabolism is a major determinant of resting energy expenditure

21 January 2018

1 reference

Starvation-induced changes in metabolic rate, blood flow, and regional energy expenditure in rats

21 January 2018

1 reference

Skeletal muscle: energy metabolism, fiber types, fatigue and adaptability

21 January 2018

1 reference

Expression and localization of carnitine/organic cation transporter OCTN1 and OCTN2 in ocular epithelium

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12112

1 reference

28 August 2017

1 reference