The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features.
about
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporterA general introduction to the biochemistry of mitochondrial fatty acid β-oxidationMitochondria: a new therapeutic target in chronic kidney diseaseMutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiencyGenetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiencyMutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationshipUse of even-numbered carbon atom dicarboxylic salts in parenteral nutrition as fuel substrateHistorical perspective on mitochondrial medicineAutosomal recessive lipid storage myopathy (probable carnitine deficiency).Familial carnitine deficiency: further evidence for autosomal recessive transmission with variable expression.Adult-onset nemaline myopathy: Another cause of dropped head.Human skeletal muscle ascorbate is highly responsive to changes in vitamin C intake and plasma concentrations.Carnitine biosynthesis in mammals.Parenteral nutrition-associated liver complications in children.Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patientsKinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport.A practical approach for the diagnosis and management of dilated cardiomyopathy.Total parenteral nutrition-associated liver disease.Marginal vitamin C status is associated with reduced fat oxidation during submaximal exercise in young adultsReye's syndrome; diagnosis by muscle biopsy?Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.Teaching monograph: pathology of skeletal muscle diseases.Dropped head syndrome in mitochondriopathy.Parenteral nutrition-associated liver disease and the role for isolated intestine and intestine/liver transplantation.Managing liver dysfunction in parenteral nutrition.Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases.Deficiency of carnitine in cachectic cirrhotic patientsFatal cases of lipid storage myopathy with carnitine deficiencyCarnitine deficiency: clinical, morphological, and biochemical observations in a fatal case.Systemic regulation of L-carnitine in nutritional metabolism in zebrafish, Danio rerio.Dropped head syndrome: diagnosis and management.Abnormal liver function tests in the parenteral nutrition fed patient.Inborn errors of amino acid and fatty acid metabolism with hypoglycemia as a major clinical manifestation.Biochemical relationships between Reye's and Reye's-like metabolic and toxicological syndromes.Myopathies due to enzyme deficiencies.Muscular carnitine synthesis and palmitate metabolism in vitro.Electromyography in infants and children.Molecular genetics in basic myology: a rapidly evolving perspective.
P2860
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P2860
The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features.
description
1975 nî lūn-bûn
@nan
1975年の論文
@ja
1975年論文
@yue
1975年論文
@zh-hant
1975年論文
@zh-hk
1975年論文
@zh-mo
1975年論文
@zh-tw
1975年论文
@wuu
1975年论文
@zh
1975年论文
@zh-cn
name
The syndrome of systemic carni ...... and pathophysiologic features.
@en
type
label
The syndrome of systemic carni ...... and pathophysiologic features.
@en
prefLabel
The syndrome of systemic carni ...... and pathophysiologic features.
@en
P2093
P356
P1433
P1476
The syndrome of systemic carni ...... and pathophysiologic features.
@en
P2093
Carpenter S
P356
10.1212/WNL.25.1.16
P407
P577
1975-01-01T00:00:00Z