• mutations
  • The group has also shown that some patients with elevated 1,25-dihydroxy vitamin D have nephrocalcinosis or nephrolithiasis due to biallelic mutations in CYP24A, the gene encoding the 24-hydroxylase that inactivates vitamin D. Other discoveries include identification of the second and third known patients in the world with congenital disorder of glycosylation 2b, in which glycoproteins fail to properly acquire their carbohydrate moieties. (nih.gov)
  • disease
  • Parents who do not have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their child. (osfhealthcare.org)
  • Over the years, section members have defined the basic defects in cystinosis, Salla disease, infantile free sialic acid storage disease and sialuria, and have identified the genes responsible for Hartnup disease, 3-methylglutaconic aciduria type III, HPS-2, HPS-3 and HPS-9. (nih.gov)
  • The UDP phenotypes patients with potentially new diseases, identifies candidate disease-causing genes using single nucleotide polymorphism (SNP) arrays and exome sequencing, and pursues functional evidence that the mutation causes the disease. (nih.gov)