Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature - Voorink-Moret, M.; Goorden, S.M.I.; van Kuilenburg, A.B.P.; Wijburg, F.A.; Ghauharali-van der Vlugt, J.M.M.; Beers-Stet, F.S.; Zoetekouw, A.; Kulik, W.; Hollak, C.E.M.; Vaz, F.M. (Molecular genetics and metabolism, 2018)
Keywords: Adolescent; Adult; Aged; Aged, 80 and over; Biomarkers - metabolism; Case-Control Studies; Child; Child, Preschool; Chitotriosidase; Cohort Studies; Fabry Disease - diagnosis; Fabry Disease - metabolism; Female; Gaucher Disease - diagnosis; Gaucher Disease - metabolism; Humans; Infant; Infant, Newborn; Lipid storage disorders; Lipidoses; Lysosphingolipids; Male; Middle Aged; Niemann-Pick Diseases - diagnosis; Niemann-Pick Diseases - metabolism; Oxysterols; Prognosis; Sphingolipidoses; Young Adult; Sphingolipidoses; Chitotriosidase; Lipidoses; Lipid storage disorders; Lysosphingolipids; Oxysterols