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Matthew Nitzahn, Brian Truong, Suhail Khoja +7 more · 2021 · The Yale journal of biology and medicine · BioMed Central · added 2026-04-24
CPS1 deficiency is an inborn error of metabolism caused by loss-of-function mutations in the
📄 PDF DOI: 10.1186/s13023-017-0661-x
CPS1