A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.
about
Tissue-specific strategies of the very-long chain acyl-CoA dehydrogenase-deficient (VLCAD-/-) mouse to compensate a defective fatty acid β-oxidationFunctional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variantsFunctional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.Myopathic causes of exercise intolerance with rhabdomyolysis.The molecular and metabolic influence of long term agmatine consumptionProlonged fasting identifies heat shock protein 10 as a Sirtuin 3 substrate: elucidating a new mechanism linking mitochondrial protein acetylation to fatty acid oxidation enzyme folding and function.The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenaseMedium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn ScreeningThe enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in FibroblastsMeasurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects.Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
P2860
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P2860
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.
description
2009 nî lūn-bûn
@nan
2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A novel tandem mass spectromet ...... genase deficiency in newborns.
@ast
A novel tandem mass spectromet ...... genase deficiency in newborns.
@en
type
label
A novel tandem mass spectromet ...... genase deficiency in newborns.
@ast
A novel tandem mass spectromet ...... genase deficiency in newborns.
@en
prefLabel
A novel tandem mass spectromet ...... genase deficiency in newborns.
@ast
A novel tandem mass spectromet ...... genase deficiency in newborns.
@en
P2093
P2860
P1433
P1476
A novel tandem mass spectromet ...... genase deficiency in newborns.
@en
P2093
Diran Herebian
Ertan Mayatepek
Frank ter Veld
Martina Mueller
Maurice D Laryea
Simone Kramer
Sonja Primassin
Ulrike Haussmann
Ute Spiekerkoetter
P2860
P356
10.1371/JOURNAL.PONE.0006449
P407
P577
2009-07-30T00:00:00Z