Wedad Fallatah et al.
Disease models & mechanisms, 13(1) (2019-12-22)
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic disorder caused by mutations in peroxisomal genes essential for plasmalogen biosynthesis. Plasmalogens are a class of membrane glycerophospholipids containing a vinyl-ether-linked fatty alcohol at the sn-1 position that affect functions including vesicular...
Walter C Hubbard et al.
Molecular genetics and metabolism, 97(3), 212-220 (2009-05-09)
Newborn screening for X-linked adrenoleukodystrophy (X-ALD) has until now been limited in implementation because of the lack of an accepted standard methodology. We have previously reported a technique using LC-MS/MS analysis that could provide the basis for screening of newborns...
A thyroid hormone-based strategy for correcting the biochemical abnormality in X-linked adrenoleukodystrophy
Hartley MD, et al.
Endocrinology, 158(5), 1328-1338 (2017)
John Williams et al.
Bioanalysis, 12(3), 143-158 (2020-02-14)
Aim: Very long chain fatty acids (VLCFAs) have been identified as biomarkers for several peroxisomal disorders necessitating the need for reliable biomarker assays in particular C20, C22, C24, C26 in cerebrospinal fluid (CSF). Until now no absolute quantitation assay for...