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: SANDOFF
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
:
administration & dosage
adverse effects
antagonists & inhibitors
analysis
biosynthesis
blood
cerebrospinal fluid
chemistry
classification
chemical synthesis
contraindications
drug effects
diagnostic use
economics
genetics
history
immunology
isolation & purification
metabolism
pharmacology
physiology
pharmacokinetics
poisoning
radiation effects
supply & distribution
secretion
standards
toxicity
therapeutic use
ultrastructure
urine
Número del Registro:
52716
Identificador Único:
D054818
Ocurrencia en la BVS
:
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