| Health / Medical Topics |
Beta-Mannosidosis
An autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzyme beta-mannosidase. It is caused by mutations in the MANBA gene. Common features of this disorder are mental retardation, developmental delays and recurrent respiratory infections. (NCI Thesaurus)
YOU MAY ALSO LIKE
A synthetic, soluble prodrug of beta-lapachone, a poorly soluble, ortho-naphthoquinone with potential antineoplastic and radiosensitizing activity. ARQ 761 is converted to beta-lapachone…
An enzyme that brings about the hydrolysis of a beta-lactam (as penicillin to penicilloic acid); found in most staphylococcus strains that are…
Compounds containing a four-membered ring with an amide nitrogen and a keto group. This configuration includes bacteriostatic, cell-wall inhibiting antibiotics, such as…
A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of…
The determination of the amount of beta-hydroxybutyrate present in a sample.
A nutritional supplement containing the active metabolite of the essential amino acid leucine, with potential anti-catabolic and anabolic activities. Upon oral administration…
