Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency
about
Disorders of carnitine transport and the carnitine cycleExpression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cellsMolecular and functional characterization of organic cation/carnitine transporter family in miceXenobiotic, bile acid, and cholesterol transporters: function and regulation.Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2.Cytokine regulation of OCTN2 expression and activity in small and large intestineElectrocardiography as an early cardiac screening test in children with mitochondrial diseaseCarnitine deficiency in OCTN2-/- newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory responseState of the art in muscle lipid diseases.Role of carnitine in diseaseSelective regulation of cardiac organic cation transporter novel type 2 (OCTN2) in dilated cardiomyopathyGenotype-phenotype correlation in primary carnitine deficiencyTransient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby.The genome of a Mongolian individual reveals the genetic imprints of Mongolians on modern human populations.Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.Hyperammonemic encephalopathy caused by carnitine deficiency.Transport of butyryl-L-carnitine, a potential prodrug, via the carnitine transporter OCTN2 and the amino acid transporter ATB(0,+)Cardiomyopathy and carnitine deficiencyPrimary carnitine deficiency and cardiomyopathyGenetic polymorphisms in placental transporters: implications for fetal drug exposure to oral antidiabetic agents.Phase 0 and phase III transport in various organs: combined concept of phases in xenobiotic transport and metabolism.Significance of l-carnitine for human health.Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect.Carnitine transport and fatty acid oxidation.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.Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency.Phenotype and genotype variation in primary carnitine deficiency.Identification and tissue distribution of two differentially spliced variants of the rat carnitine transporter OCTN2.Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence.Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?Functional and molecular studies in primary carnitine deficiency.Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.A Moderate Carnitine Deficiency Exacerbates Isoproterenol-Induced Myocardial Injury in Rats.Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation
P2860
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P2860
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Genetic epidemiology of the ca ...... systemic carnitine deficiency
@ast
Genetic epidemiology of the ca ...... systemic carnitine deficiency
@en
Genetic epidemiology of the ca ...... systemic carnitine deficiency
@nl
type
label
Genetic epidemiology of the ca ...... systemic carnitine deficiency
@ast
Genetic epidemiology of the ca ...... systemic carnitine deficiency
@en
Genetic epidemiology of the ca ...... systemic carnitine deficiency
@nl
prefLabel
Genetic epidemiology of the ca ...... systemic carnitine deficiency
@ast
Genetic epidemiology of the ca ...... systemic carnitine deficiency
@en
Genetic epidemiology of the ca ...... systemic carnitine deficiency
@nl
P2093
P2860
P356
P1476
Genetic epidemiology of the ca ...... systemic carnitine deficiency
@en
P2093
T Matsuishi
P2860
P304
P356
10.1093/HMG/8.12.2247
P407
P577
1999-11-01T00:00:00Z