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BETA-MANNOSIDOSIS
Descriptors Found:
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DeCS
Descriptor
English
:
beta-Mannosidosis
Descriptor
Spanish
:
beta-Manosidosis
Descriptor
Portuguese
:
beta-Manosidose
Synonyms
English
:
Mannosidosis, beta A, Lysosomal
Tree Number:
C16.320.565.202.607.750
C16.320.565.595.577.750
C18.452.648.202.607.750
C18.452.648.595.577.750
Definition
English
:
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 itself with variety of
symptoms
that depend upon the type of gene
mutation.
See Related
English
:
beta-Mannosidase
History Note
English
:
2004
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
38054
Unique Identifier:
D044905
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
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