Mannosidasbristsjukdomar
Sjukdomar orsakade av förlust av ett eller fler enzym som deltar i hydrolys av mannosidlänkningar (mannosidaser). Bristerna i enzymaktivitet är främst förknippade med mutation av de gener som kodar för ett särskilt mannosidasisoenzym.
Förklaring på engelska
Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme.
Synonym, svenska: Mannosidos
Synonym, engelska: Deficiency Disease, Mannosidase; Deficiency Diseases, Mannosidase; Diseases, Mannosidase Deficiency; Mannosidase Deficiency Disease; Mannosidase Deficiency Syndromes; Deficiency Syndrome, Mannosidase; Deficiency Syndromes, Mannosidase; Mannosidase Deficiency Syndrome; Mannosidosis; Mannosidoses
| Svensk term | Mannosidasbristsjukdomar |
| Synonym på svenska | Mannosidos |
| Synonym på engelska | Deficiency Disease, Mannosidase; Deficiency Diseases, Mannosidase; Diseases, Mannosidase Deficiency; Mannosidase Deficiency Disease; Mannosidase Deficiency Syndromes; Deficiency Syndrome, Mannosidase; Deficiency Syndromes, Mannosidase; Mannosidase Deficiency Syndrome; Mannosidosis; Mannosidoses |
| Engelsk term | Mannosidase Deficiency Diseases |
| MESH ID | D044904 |