Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.
about
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlationMedium-chain acyl-CoA dehydrogenase deficiency in gene-targeted miceMitochondrial long chain fatty acid beta-oxidation in man and mouseClear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidationMyopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl.Inborn errors of energy metabolism associated with myopathies.Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation.Metabolic cardiomyopathies.Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglycerideProlonged QT interval and lipid alterations beyond β-oxidation in very long-chain acyl-CoA dehydrogenase null mouse hearts.Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.Long-term correction of very long-chain acyl-coA dehydrogenase deficiency in mice using AAV9 gene therapy.Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years ExperienceMolecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiencyThe Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD DeficiencyIncreased mean aliphatic lipid chain length in left ventricular hypertrophy secondary to arterial hypertension: A cross-sectional study.Insights into hepatopancreatic functions for nutrition metabolism and ovarian development in the crab Portunus trituberculatus: gene discovery in the comparative transcriptome of different hepatopancreas stagesMedium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy.Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency.The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review.Anesthetic agents in patients with very long-chain acyl-coenzyme A dehydrogenase deficiency: a literature review.Muscle MRI in patients with long-chain fatty acid oxidation disorders.Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in FibroblastsCorresponding increase in long-chain acyl-CoA and acylcarnitine after exercise in muscle from VLCAD mice.A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency.MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.Perioperative management of a child with very-long-chain acyl-coenzyme A dehydrogenase deficiency.Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency.Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in JapanQuantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
P2860
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P2860
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
Mitochondrial very-long-chain ...... considerations in 30 patients.
@en
Mitochondrial very-long-chain ...... considerations in 30 patients.
@nl
type
label
Mitochondrial very-long-chain ...... considerations in 30 patients.
@en
Mitochondrial very-long-chain ...... considerations in 30 patients.
@nl
prefLabel
Mitochondrial very-long-chain ...... considerations in 30 patients.
@en
Mitochondrial very-long-chain ...... considerations in 30 patients.
@nl
P2093
P1433
P1476
Mitochondrial very-long-chain ...... considerations in 30 patients.
@en
P2093
Vianey-Saban C
P356
10.1016/S0009-8981(97)00185-X
P577
1998-01-01T00:00:00Z