Associated Papers
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO et al.
The Journal of Clinical Investigation, 2024
Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development.
Dunwoodie SL et al.
Antioxidants & Redox Signaling, 2023
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
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Szot JO et al.
American Journal of Human Genetics, 2020
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