(Q36433288)

14 August 2017

0 references

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

1 reference

14 August 2017

1 reference

Irene De Biase

1

1 reference

14 August 2017

Neena Lorenzana Champaigne

2

1 reference

14 August 2017

Richard Schroer

3

1 reference

14 August 2017

Laura Malinda Pollard

4

1 reference

14 August 2017

Nicola Longo

5

1 reference

14 August 2017

Tim Wood

6

1 reference

14 August 2017

language of work or name

1 reference

6 September 2011

1 reference

Journal of Inherited Metabolic Disorders Reports

14 August 2017

1 reference

14 August 2017

2

1 reference

14 August 2017

87-90

1 reference

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

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509843

Cardiomyopathy and carnitine deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509843

Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509843

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509843

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509843

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509843

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509843

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509843

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509843

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509843

Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23430858

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/23430858

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/8904_2011_52

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

23430858

1 reference