Associated Papers
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO et al.
The Journal of Clinical Investigation, 2024
Clinical heterogeneity of NADSYN1-associated VCRL syndrome.
Aubert-Mucca M et al.
Clinical Genetics, 2023
Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations.
Lin J et al.
Genes, 2021
NAD+ homeostasis in human health and disease.
Zapata-Pérez R et al.
Embo Molecular Medicine, 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
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