A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder
Nicotinamide adenine dinucleotide (NAD) is essential for embryonic development. To date,
biallelic loss-of-function variants in 3 genes encoding nonredundant enzymes of the NAD de …
biallelic loss-of-function variants in 3 genes encoding nonredundant enzymes of the NAD de …
[HTML][HTML] Congenital NAD deficiency disorder
P Mark, S Dunwoodie - 2023 - europepmc.org
Congenital NAD deficiency disorder (CNDD) is a multisystem condition in which cardiac,
renal, vertebral, and limb anomalies are common, mimicking the clinical features described …
renal, vertebral, and limb anomalies are common, mimicking the clinical features described …
Metabolic Alterations in NADSYN1-Deficient Cells
NWF Meijer, J Gerrits, S Zwakenberg, FJT Zwartkruis… - Metabolites, 2023 - mdpi.com
NAD synthetase 1 (encoded by the gene NADSYN1) is a cytosolic enzyme that catalyzes the
final step in the biosynthesis of nicotinamide adenine dinucleotide (NAD+) from tryptophan …
final step in the biosynthesis of nicotinamide adenine dinucleotide (NAD+) from tryptophan …
Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age
YM Kim, HH Lim, E Kim, G Kim, M Kim, H So… - Journal of Clinical …, 2023 - mdpi.com
The most common causes of short stature (SS) in children are familial short stature (FSS)
and idiopathic short stature (ISS). Recently, growth plate dysfunction has been recognized …
and idiopathic short stature (ISS). Recently, growth plate dysfunction has been recognized …
[HTML][HTML] Congenital NAD Deficiency Disorder Synonym: Vertebral, Cardiac, Renal, and Limb Defects (VCRL)
P Mark, S Dunwoodie - Gene - europepmc.org
Congenital NAD deficiency disorder (CNDD) is a multisystem condition in which cardiac,
renal, vertebral, and limb anomalies are common, mimicking the clinical features described …
renal, vertebral, and limb anomalies are common, mimicking the clinical features described …