Expresión de búsqueda:
HEXOSAMINIDASE A
Descriptores Encontrados:
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DeCS
Descriptor
Inglés
:
Hexosaminidase A
Descriptor
Español
:
Hexosaminidasa A
Descriptor
Portugués
:
Hexosaminidase A
Sinónimos
Inglés
:
Hex A
Categoría:
D08.811.277.450.483.180.750
Definición
Inglés
:
A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of
hexosaminidase A
due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of
TAY-SACHS DISEASE
. Deficiency of
hexosaminidase A
and
HEXOSAMINIDASE B
due to mutations in the gene encoding the hexosaminidase beta subunit is a case of
SANDHOFF DISEASE.
Nota de Indización
Inglés
:
for deficiency consider:
SANDHOFF DISEASE
or
TAY-SACHS DISEASE
Relacionados
Inglés
:
Sandhoff Disease
Tay-Sachs Disease
Nota Histórica
Inglés
:
2008(1987); for HEXOSAMINIDASE A use BETA-N-ACETYLHEXOSAMINIDASE 1987-2007
Calificadores Permitidos
Inglés
:
AD
administration & dosage
AE
adverse effects
AN
analysis
AI
antagonists & inhibitors
BI
biosynthesis
BL
blood
CF
cerebrospinal fluid
CS
chemical synthesis
CH
chemistry
CL
classification
CT
contraindications
DU
diagnostic use
DE
drug effects
EC
economics
GE
genetics
HI
history
IM
immunology
IP
isolation & purification
ME
metabolism
PK
pharmacokinetics
PD
pharmacology
PH
physiology
PO
poisoning
RE
radiation effects
SE
secretion
ST
standards
SD
supply & distribution
TU
therapeutic use
TO
toxicity
UL
ultrastructure
UR
urine
Número del Registro:
52716
Identificador Único:
D054818
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS