Associated Papers
Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development.
Dunwoodie SL et al.
Antioxidants & Redox Signaling, 2023
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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H et al.
The New England Journal of Medicine, 2017
Select a paper to view details