Search on:
GANGLIOSIDOSES, GM2
Descriptors Found:
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DeCS
Descriptor
English
:
Gangliosidoses, GM2
Descriptor
Spanish
:
Gangliosidosis GM2
Descriptor
Portuguese
:
Gangliosidoses GM2
Synonyms
English
:
G(M2) Gangliosidoses
Tree Number:
C10.228.140.163.100.435.825.300.300
C16.320.565.189.435.825.300.300
C16.320.565.398.641.803.350.300
C16.320.565.595.554.825.300.300
C18.452.132.100.435.825.300.300
C18.452.584.687.803.350.300
C18.452.648.189.435.825.300.300
C18.452.648.398.641.803.350.300
C18.452.648.595.554.825.300.300
Definition
English
:
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of
enzymes
in the
BETA-N-ACETYLHEXOSAMINIDASES
system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of
GANGLIOSIDES
, a subclass of
ACIDIC GLYCOSPHINGOLIPIDS.
See Related
English
:
beta-N-Acetylhexosaminidases
History Note
English
:
2007 (2000)
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:
34238
Unique Identifier:
D020143
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
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