Pesquisa sobre:
HEXOSAMINIDASE A
Descritores Encontrados:
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DeCS
Descritor
Inglês
:
Hexosaminidase A
Descritor
Espanhol
:
Hexosaminidasa A
Descritor
Português
:
Hexosaminidase A
Sinônimos
Inglês
:
Hex A
Categoria:
D08.811.277.450.483.180.750
Definição
Inglês
:
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 Indexação
Inglês
:
for deficiency consider:
SANDHOFF DISEASE
or
TAY-SACHS DISEASE
Relacionados
Inglês
:
Sandhoff Disease
Tay-Sachs Disease
Nota Histórica
Inglês
:
2008(1987); for HEXOSAMINIDASE A use BETA-N-ACETYLHEXOSAMINIDASE 1987-2007
Qualificadores Permitidos
Inglês
:
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 do Registro:
52716
Identificador Único:
D054818
Ocorrência na BVS
:
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