References
Buchert R, Tawamie H, Smith C, Uebe S, Innes A , Al Hallak B, Ekici A, Sticht H, Schwarze B, Lamont R, Parboosingh J, Bernier F, Abou Jamra R. 2014. A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency. 95:602-610.
Cheng JB, Russell DW. 2004. Mammalian Wax Biosynthesis. 279:37789-37797.
Ferdinandusse S, Mcwalter K, Te Brinke H, Ijlst L, Mooijer PM, Ruiter JPN, Van Lint, Alida E M, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C,…, Vaz FM. 2021. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genetics in Medicine 23:740.
Honsho M, Asaoku S, Fujiki Y. 2010. Posttranslational Regulation of Fatty Acyl-CoA Reductase 1, Far1, Controls Ether Glycerophospholipid Synthesis. 285:8537-8542.
Honsho M, Asaoku S, Fukumoto K, Fujiki Y. 2013. Topogenesis and Homeostasis of Fatty Acyl-CoA Reductase 1. 288:34588-34598.
Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {616154, 619338}: {05/20/2021, 02/16/2022}: World Wide Web URL: https://omim.org/
Table 1. Summary of the clinical manifestations of the 13 patients with CSPSD