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Autor:
Suha Salim, Peter I. Benke, Friedhelm Hildebrandt, Khalid Alhasan, Stacey Kiat Hong Tay, Abdullah A. Alangari, Isaac Desheng Liu, Federico Torta, Nicole Weaver, Bonnie Sullivan, Karin Chen, Piming Zhao, Megan A. Cooper, Emily Tang, Alwin Loh, Markus R. Wenk, Jeffrey B. Hodgin, James A. Endrizzi, Weixing Ou, Jeremy Selva, Julie D. Saba, Olivia West, Austin Larson, Evren Gumus, Hui Kim Yap, Martin Zenker, Denise Li Meng Goh
Publikováno v:
J Inherit Metab Dis
Sphingosine-1-phosphate (S1P) lyase is a vitamin B6-dependent enzyme that degrades sphingosine-1-phosphate in the final step of sphingolipid metabolism. In 2017, a new inherited disorder was described caused by mutations in SGPL1, which encodes sphin