Muscle carnitine palmityltransferase deficiency and myoglobinuria
about
cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferaseFetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and managementScience review: carnitine in the treatment of valproic acid-induced toxicity - what is the evidence?A general introduction to the biochemistry of mitochondrial fatty acid β-oxidationCombined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseImpact of fatty acid oxidation disorders in child neurology: from Reye syndrome to Pandora's boxCarnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular reviewAbbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblastsDisruption of mitochondrial beta -oxidation of unsaturated fatty acids in the 3,2-trans-enoyl-CoA isomerase-deficient mouseHistorical perspective on mitochondrial medicineMuscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical FeaturesCarnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities.Mitochondrial disorders. A diagnostic challenge in clinical chemistry.Inborn errors of mitochondrial fatty acid oxidation.Inborn errors of energy metabolism associated with myopathies.Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.Acute pediatric rhabdomyolysis.Rhabdomyolysis: a review.Activation of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum by palmitoyl carnitine.The muscle cell.State of the art in muscle lipid diseases.Role of carnitine in diseaseTreatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglycerideGenetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weaknessClinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation.The development of mitochondrial medicine.Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouseMolecular mechanisms of statin intoleranceCombined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance.Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case.Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.Carnitine in the treatment of valproic acid-induced toxicity.Bilateral supernumerary kidneys: how much is too much?A diagnostic algorithm for metabolic myopathiesMetabolic Myoglobinuria.Myoglobinuria: the importance of reaching a firm diagnosis--a patient with defective fatty acid oxidation.Non-dystrophic, myogenic myopathies with onset in infancy or childhood. A review of some characteristic syndromes.Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.Complementation analysis of carnitine palmitoyltransferase I and II defects.
P2860
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P2860
Muscle carnitine palmityltransferase deficiency and myoglobinuria
description
1973 nî lūn-bûn
@nan
1973 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1973 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1973年の論文
@ja
1973年論文
@yue
1973年論文
@zh-hant
1973年論文
@zh-hk
1973年論文
@zh-mo
1973年論文
@zh-tw
1973年论文
@wuu
name
Muscle carnitine palmityltransferase deficiency and myoglobinuria
@ast
Muscle carnitine palmityltransferase deficiency and myoglobinuria
@en
Muscle carnitine palmityltransferase deficiency and myoglobinuria
@nl
type
label
Muscle carnitine palmityltransferase deficiency and myoglobinuria
@ast
Muscle carnitine palmityltransferase deficiency and myoglobinuria
@en
Muscle carnitine palmityltransferase deficiency and myoglobinuria
@nl
prefLabel
Muscle carnitine palmityltransferase deficiency and myoglobinuria
@ast
Muscle carnitine palmityltransferase deficiency and myoglobinuria
@en
Muscle carnitine palmityltransferase deficiency and myoglobinuria
@nl
P2860
P3181
P1433
P1476
Muscle carnitine palmityltransferase deficiency and myoglobinuria
@en
P2093
P M DiMauro
P2860
P304
P3181
P356
10.1126/SCIENCE.182.4115.929
P407
P577
1973-11-20T00:00:00Z