Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy
about
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporterGenetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiencyMolecular and functional characterization of organic cation/carnitine transporter family in miceOral carnitine therapy in children with cystinosis and renal Fanconi syndrome.Primary carnitine deficiency and cardiomyopathyA regional study of presentation and outcome of hypertrophic cardiomyopathy in infants.Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.Cardiac gene expression profile and lipid accumulation in response to starvation.Carnitine modulates crucial myocardial adenosine triphosphatases and acetylcholinesterase enzyme activities in choline-deprived rats.
P2860
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P2860
Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy
description
1985 nî lūn-bûn
@nan
1985 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1985 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1985年の論文
@ja
1985年論文
@yue
1985年論文
@zh-hant
1985年論文
@zh-hk
1985年論文
@zh-mo
1985年論文
@zh-tw
1985年论文
@wuu
name
Successful carnitine treatment ...... th hypertrophic cardiomyopathy
@ast
Successful carnitine treatment ...... th hypertrophic cardiomyopathy
@en
Successful carnitine treatment ...... th hypertrophic cardiomyopathy
@nl
type
label
Successful carnitine treatment ...... th hypertrophic cardiomyopathy
@ast
Successful carnitine treatment ...... th hypertrophic cardiomyopathy
@en
Successful carnitine treatment ...... th hypertrophic cardiomyopathy
@nl
prefLabel
Successful carnitine treatment ...... th hypertrophic cardiomyopathy
@ast
Successful carnitine treatment ...... th hypertrophic cardiomyopathy
@en
Successful carnitine treatment ...... th hypertrophic cardiomyopathy
@nl
P2093
P356
P1433
P1476
Successful carnitine treatment ...... th hypertrophic cardiomyopathy
@en
P2093
K Terasawa
N Sugiyama
T Matsuishi
P356
10.1055/S-2008-1052536
P407
P577
1985-02-01T00:00:00Z