Assay for Sjögren-Larsson syndrome based on a deficiency of phytol degradation.
van den Brink
Daan M
DM
Academic Medical Center, Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital, University of Amsterdam, 1100 DE Amsterdam, The Netherlands.
van Miert
Joram M
JM
Wanders
Ronald J A
RJ
D000445:Aldehyde Oxidoreductases / Q000172:deficiency / Q000378:metabolism*; D002460:Cell Line; D004796:Clinical Enzyme Tests; D005347:Fibroblasts / Q000201:enzymology; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D010831:Phytanic Acid / Q000031:analogs & derivatives* / Q000378:metabolism*; D010836:Phytol / Q000378:metabolism*; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis*
D010831:Phytanic Acid; D010836:Phytol; C045824:phytenic acid; D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase