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pro vyhledávání: '"Julee Ashmead"'
Autor:
Aimée M. Dudley, Russell S. Lo, Amy Sirr, Adrian C. Scott, Julee Ashmead, Mirutse Heyesus, Gareth A. Cromie
Publikováno v:
J Inherit Metab Dis
BACKGROUND: Defects in serine biosynthesis caused by loss of function mutations in PHGDH, PSAT1, and PSPH cause a set of rare, autosomal recessive diseases known as Neu-Laxova syndrome (NLS) or serine-deficiency disorders. The diseases present with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b62b700c58b797694a2e570db879f53f
https://europepmc.org/articles/PMC7444316/
https://europepmc.org/articles/PMC7444316/