Associated Papers
Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites.
Bomba L et al.
American Journal of Human Genetics, 2022
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Szot JO et al.
Human Mutation, 2021
A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.
Schüle I et al.
Genes, 2021
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Ehmke N et al.
Bone, 2020
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H et al.
The New England Journal of Medicine, 2017
Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.
Christensen M et al.
Journal of Inherited Metabolic Disease, 2007
Genetic alterations affecting the genes encoding the enzymes of the kynurenine pathway and their association with human diseases.
Boros FA et al.
Mutation Research. Reviews in Mutation Research, 0
Select a paper to view details