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Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology

5-Oxoprolinase deficiency Disease name 5-Oxoprolinase deficiency (OMIM 260005) Definition and diagnostic criteria 5-Oxoprolinase deficiency is a very rare autosomal recessive disease characterized by 5-oxoprolinuria and very heterogeneous clinical presentation (renal stone formation, enterocolitis, mental retardation, neonatal hypoglycemia, microcytic anemia and microcephaly)

they are then used to characterize the effects of KIR and KID in this scenario [3]

Archived from the original on 15 December 2021

doi: 10.1186/s41983-020-0159-7 152 ShiM.LiuC.CookT