Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency
about
Sturge-Weber syndrome coexisting with episodes of rhabdomyolysisStrategies for correcting very long chain acyl-CoA dehydrogenase deficiency.Acylcarnitines--old actors auditioning for new roles in metabolic physiology.Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders.Fasting induces prominent proteomic changes in liver in very long chain Acyl-CoA dehydrogenase deficient mice.Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS databaseNon-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.Advances in the Understanding and Treatment of Mitochondrial Fatty Acid Oxidation Disorders.Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.A Nonsense Variant in the ACADVL Gene in German Hunting Terrier Dogs with Exercise Induced Metabolic Myopathy.Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
P2860
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P2860
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency
@ast
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency
@en
type
label
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency
@ast
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency
@en
prefLabel
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency
@ast
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency
@en
P2093
P2860
P1476
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency
@en
P2093
Anuradha Karunanidhi
Elizabeth McCracken
Manuel Schiff
Renita Yeasted
P2860
P356
10.1016/J.YMGME.2013.02.002
P577
2013-02-13T00:00:00Z