(Q35618853)

9 August 2017

title

Genotype-phenotype correlation in primary carnitine deficiency (English)

1 reference

genotype-phenotype correlation

9 August 2017

main subject

1 reference

1 reference

Nicola Longo

6

0 references

author name string

Emily C Rose

1

1 reference

9 August 2017

Cristina Amat di San Filippo

2

1 reference

9 August 2017

Uzochi C Ndukwe Erlingsson

3

1 reference

9 August 2017

Orly Ardon

4

1 reference

9 August 2017

Marzia Pasquali

5

1 reference

9 August 2017

publication date

11 October 2011

1 reference

9 August 2017

1 reference

9 August 2017

volume

33

1 reference

9 August 2017

issue

1

1 reference

9 August 2017

page(s)

118-123

1 reference

Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

Functional characterization of ergothioneine transport by rat organic cation/carnitine transporter Octn1 (slc22a4).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

Cardiomyopathy and carnitine deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

Disorders of carnitine transport and the carnitine cycle

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

Discovery of the ergothioneine transporter

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

Functional Domains in the Carnitine Transporter OCTN2, Defective in Primary Carnitine Deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

Molecular and functional characterization of organic cation/carnitine transporter family in mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

Primary and secondary alterations of neonatal carnitine metabolism.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

Influx and efflux of 3-O-methyl-D-glucose by cultured human fibroblasts.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3240685

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

12 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21607

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21607

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21607

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21607

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21607

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

https://api.crossref.org/works/10.1002%2FHUMU.21607

Phenotype and genotype variation in primary carnitine deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21607

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%2FHUMU.21607

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21607

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21607

Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21922592

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Expanded newborn screening identifies maternal primary carnitine deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21922592

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.21607

1 reference

9 August 2017

1 reference

9 August 2017

1 reference