Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management (Q36392407)

13 August 2017

1 reference

2 October 2023

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management (English)

1 reference

systemic primary carnitine deficiency

13 August 2017

1 reference

inherited metabolic disorder

inferred from abstract

1 reference

15 August 2020

1 reference

15 August 2020

2

Ayman W El-Hattab

1 reference

13 August 2017

1

Pilar L Magoulas

1 reference

13 August 2017

language of work or name

1 reference

18 September 2012

5 references

Orphanet Journal of Rare Diseases

13 August 2017

22 April 2019

7 November 2019

15 August 2020

2 October 2023

5 references

13 August 2017

22 April 2019

7 November 2019

15 August 2020

2 October 2023

7

1 reference

13 August 2017

68

1 reference

Creative Commons Attribution 2.0 Generic

13 August 2017

4 references

22 April 2019

7 November 2019

15 August 2020

on focus list of Wikimedia project

2 October 2023

copyright status

copyrighted

0 references

ScienceSource

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cites work

Genotype-phenotype correlation in primary carnitine deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495906

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

30 September 2017

1 reference

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495906

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=3495906

Disorders of carnitine transport and the carnitine cycle

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495906

Carnitine deficiency disorders in children

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495906

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic 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=3495906

Primary and secondary alterations of neonatal carnitine metabolism.

30 September 2017

1 reference

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

30 September 2017

1 reference

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The effects of L- and D-carnitine administration on cardiovascular development of the chick embryo.

28 June 2018

1 reference

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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=3495906

Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495906

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=3495906

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

21 September 2018

1 reference

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

21 September 2018

1 reference

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Phenotype and genotype variation in primary carnitine deficiency

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495906

Carnitine transporter defect diagnosed by newborn screening with electrospray 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=3495906

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

21 September 2018

1 reference

12 December 2020

Transfer and metabolism of carnitine and carnitine esters in the in vitro perfused human placenta

1 reference

12 December 2020

1 reference

12 December 2020

First prenatal diagnosis of the carnitine transporter defect

1 reference

12 December 2020

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

1 reference

12 December 2020

Expanded newborn screening identifies maternal primary carnitine deficiency

1 reference

12 December 2020

A case of early diagnosed carnitine deficiency presenting with respiratory symptoms

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-68

1 reference

Dimensions Publication ID

13 August 2017

0 references

1 reference

13 August 2017

PubMed publication ID

22989098

1 reference