Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy.
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Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporterEvidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5qNew insights concerning the role of carnitine in the regulation of fuel metabolism in skeletal muscleMitochondrial disorders: challenges in diagnosis & treatmentCardiac hypertrophy in juvenile visceral steatosis (jvs) mice with systemic carnitine deficiencyInteractions of acyl carnitines with model membranes: a (13)C-NMR study.Inborn errors of mitochondrial fatty acid oxidation.Inborn errors of energy metabolism associated with myopathies.Role of plasma membrane transporters in muscle metabolism.Metabolic cardiomyopathies.The neuro-ophthalmology of mitochondrial diseaseCarnitine biosynthesis in mammals.Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular testsClinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation.Levocarnitine and dialysis: a review.Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter.Transient reduction of human left ventricular mass in carnitine depletion induced by antibiotics containing pivalic acidMutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency.Primary carnitine deficiency and cardiomyopathyResidual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.Treatment of hereditary optic neuropathies.Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.OCTN cation transporters in health and disease: role as drug targets and assay development.L-Carnitine.Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.A child with valproic acid-associated carnitine deficiency and carnitine-responsive cardiac dysfunction.Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449).
P2860
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P2860
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Impaired skin fibroblast carni ...... ine-responsive cardiomyopathy.
@en
Impaired skin fibroblast carni ...... ine-responsive cardiomyopathy.
@nl
type
label
Impaired skin fibroblast carni ...... ine-responsive cardiomyopathy.
@en
Impaired skin fibroblast carni ...... ine-responsive cardiomyopathy.
@nl
prefLabel
Impaired skin fibroblast carni ...... ine-responsive cardiomyopathy.
@en
Impaired skin fibroblast carni ...... ine-responsive cardiomyopathy.
@nl
P2093
P1433
P1476
Impaired skin fibroblast carni ...... ine-responsive cardiomyopathy.
@en
P2093
Cvitanovic-Sojat L
De Meirleir LJ
De Vivo DC
Dionisi-Vici C
Servidei S
P304
P356
10.1203/00006450-199009000-00020
P407
P577
1990-09-01T00:00:00Z
P5875
P6179
1040225036