beta-Mannosidosis [beta-mannosidóza]
topical
1
- Terms
-
deficit beta-mannosidázy
mannosidóza beta A lyzozomální
-
beta-Mannosidase Deficiency
Lysosomal beta A Mannosidosis
Lysosomal beta-Mannosidase Deficiency
Mannosidosis, beta A, Lysosomal
Persistent link
https://www.medvik.cz/link/D044905
Definition
An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation.
- DUI
- D044905 MeSH Browser
- CUI
- M0446530
- Previous indexing
- Mannosidase Deficiency Diseases (1984-2003)
- History note
- 2004
- Public note
- 2004
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology
- GE
- genetics
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy
- UR
- urine
- VE
- veterinary
- VI
- virology
...
Occurrences in Medvik records
C
Diseases