Disorders of carnitine biosynthesis and transport (Q38589269)

4 September 2017

Disorders of carnitine biosynthesis and transport (English)

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4 September 2017

1

Ayman W El-Hattab

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4 September 2017

2

Fernando Scaglia

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4 September 2017

10 September 2015

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Molecular Genetics and Metabolism

4 September 2017

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4 September 2017

116

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4 September 2017

3

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4 September 2017

107-112

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Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport

4 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Carnitine biosynthesis in mammals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Molecular enzymology of carnitine transfer and transport

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Carnitine, mitochondrial function and therapy

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Tissue distribution of carnitine biosynthetic enzymes in man

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

gamma-Butyrobetaine hydroxylase activity is not rate limiting for carnitine biosynthesis in the human infant

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Carnitine function and requirements during the life cycle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Carnitine deficiency disorders in children

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Kinetics, pharmacokinetics, and regulation of L-carnitine and acetyl-L-carnitine metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Na(+)-coupled transport of L-carnitine via high-affinity carnitine transporter OCTN2 and its subcellular localization in kidney

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

OCTN cation transporters in health and disease: role as drug targets and assay development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Disorders of carnitine transport and the carnitine cycle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Functional characterization of the carnitine transporter defective in primary carnitine deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Expanded newborn screening identifies maternal primary carnitine deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Primary and secondary alterations of neonatal carnitine metabolism.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Phenotype and genotype variation in primary carnitine deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

A case of early diagnosed carnitine deficiency presenting with respiratory symptoms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Carnitine status of lactoovovegetarians and strict vegetarian adults and children

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Dietary-dependent carnitine deficiency as a causeof nonketotic hypoglycemia in an infant

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Carnitine and total parenteral nutrition of the neonate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Mechanism of the inhibitory effect of zwitterionic drugs (levofloxacin and grepafloxacin) on carnitine transporter (OCTN2) in Caco-2 cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Inhibition of OCTN2-mediated transport of carnitine by etoposide

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

Inactivation by omeprazole of the carnitine transporter (OCTN2) reconstituted in liposomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.09.004

10.1016/J.YMGME.2015.09.004

7 January 2021

Identifiers

DOI

1 reference

4 September 2017

1 reference

PubMed ID

26385306