Fatty acid from the dried blood spot wa... H Nishio,S Kodama,S Yokoyama,... - 《Clinica Chimica Acta》 被引量: 48发表: 1986年 Diagnosis of adrenoleukodystrophy using dried blood spots. adrenoleukodystrophy, very long chain fatty acids, sphingolipid, dried blood spotsWe have demonstrated the ...
1993. Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening. J. Inherit. Metab. Dis. 16:63-66Jakobs C, van den Heuvel CMM, Stellaard F, Largilliere C, Skovby F, Christensen E (1993) Diagnosis of Zellweger syndrome...
X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder caused by the accumulation of very long-chain fatty acids (VLCFA) due to mutations in the ABCD1 gene. The phenotypic spectrum ranges from a fatal cerebral demyelinating disease in childhood (cerebral ALD) to a progressive my...
Fatty acids have long been considered essential to brain development; however, the involvement of their synthesis in nervous system formation is unclear. We generate mice with knockout of GPSN2, an enzyme for synthesis of very-long-chain fatty acids (VLCFAs) and investigate the effects. Both GP...
very-long-chain acyl-CoA dehydrogenase VLCAD Very-Long-Chain Monounsaturated Fatty Acids Very-Long-Chain Saturated Fatty Acid Very-Low Confidence Very-Low Emission Vehicle Very-Low Voltage very-low-birth-weight infant very-low-birth-weight infant very-low-birth-weight infant very-low-birth-weight ...
Fenofibrate increases very-long-chain sphingolipids and improves blood glucose homeostasis in NOD miceBlood glucose homeostasisCeramideFenofibrateGlycerophospholipidNOD miceSphingolipidSulfatideSympathetic nerve fibresType 1 diabetesTyrosine hydroxylaseAims/hypothesis Sphingolipid metabolism regulates beta cell biology and...
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 Japan GO TAJIMA, NOBUO SAKURA, KENICHIRO SHIRAO, SATOSHI ...
Mitochondrial fatty acid oxidation disorders (FAODs) are caused by defects in β-oxidation enzymes, including very long-chain acyl-CoA dehydrogenase (VLCAD), trifunctional protein (TFP), carnitine palmitoyltransferase-2 (CPT2), carnitine-acylcarnitine translocase (CACT) and others. During prolonged fast...
The single most useful biochemical test for the diagnosis, and further sub-classification, of a peroxisomal disorder is the measurement of total (de-esterified) branched chain and very long chain fatty acids (VLCFA) in plasma. In the majority of peroxisomal disorders tetracosanoic (C24:0) and...
Microdetermination of long-chain fatty acids in plasma and tissues. J Biol Chem 1960; 235: 2595–2599. 26 Lederman SA, Paxton A, Heymsfield SB, Wang J, Thornton J, Pierson RN Jr. Body fat and water changes during pregnancy in women with different body weight and weight gain. Obstet ...