Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome.

Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome.

Item
http://www.wikidata.org/entity/Q39569691
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporterCarnitine deficiency and hyperammonemia in children receiving valproic acid with and without other anticonvulsant drugsCarnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.Role of plasma membrane transporters in muscle metabolism.Muscle carnitine deficiency presenting as familial fatal cardiomyopathy.Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation.Reversible alterations in myocardial gene expression in a young man with dilated cardiomyopathy and hypothyroidism.Primary carnitine deficiency and cardiomyopathyCarnitine, valproate, and toxicity.Biochemical relationships between Reye's and Reye's-like metabolic and toxicological syndromes.L-carnitine: a partner between immune response and lipid metabolism ?Effect of carnitine deprivation on carnitine homeostasis and energy metabolism in mice with systemic carnitine deficiency.MELODI: Mining Enriched Literature Objects to Derive Intermediates.A child with valproic acid-associated carnitine deficiency and carnitine-responsive cardiac dysfunction.Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.
P2860

Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome.

Item
http://www.wikidata.org/entity/Q39569691
description
1980 nî lūn-bûn
@nan
1980年の論文
@ja
1980年論文
@yue
1980年論文
@zh-hant
1980年論文
@zh-hk
1980年論文
@zh-mo
1980年論文
@zh-tw
1980年论文
@wuu
1980年论文
@zh
1980年论文
@zh-cn
name
Systemic carnitine deficiency- ...... presenting as Reye's syndrome.
@en
Systemic carnitine deficiency- ...... presenting as Reye's syndrome.
@nl
type
label
Systemic carnitine deficiency- ...... presenting as Reye's syndrome.
@en
Systemic carnitine deficiency- ...... presenting as Reye's syndrome.
@nl
prefLabel
Systemic carnitine deficiency- ...... presenting as Reye's syndrome.
@en
Systemic carnitine deficiency- ...... presenting as Reye's syndrome.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Systemic carnitine deficiency- ...... presenting as Reye's syndrome.
@en
P2093
P304
P31
P356
10.1056/NEJM198012113032403
P407
P433
P478
P50
P577
P698