Pesquisa sobre: TAY-SACHS DISEASE, AB VARIANT 
Descritores Encontrados: 1
Mostrando: 1 .. 1  

 1 / 1 DeCS     
Descritor Inglês:   Tay-Sachs Disease, AB Variant 
Descritor Espanhol:   Enfermedad de Tay-Sachs Variante AB 
Descritor Português:   Doença de Tay-Sachs Variante AB 
Sinônimos Inglês:   Gangliosidosis GM2, AB Variant
Gangliosidosis GM2, Type AB
GM2 Protein Activator Deficiency Disease  
Categoria:   C10.228.140.163.100.435.825.300.300.750
C16.320.565.189.435.825.300.300.750
C16.320.565.398.641.803.350.300.925
C16.320.565.595.554.825.300.300.920
C18.452.132.100.435.825.300.300.750
C18.452.584.687.803.350.300.925
C18.452.648.189.435.825.300.300.750
C18.452.648.398.641.803.350.300.925
C18.452.648.595.554.825.300.300.920
Definição Inglês:   A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein. 
Relacionados Inglês:   G(M2) Activator Protein
 
Nota Histórica Inglês:   2005(2000); use GANGLIOSIDOSES GM2 2000-2004 
Qualificadores Permitidos Inglês:  
blood cerebrospinal fluid
chemically induced classification
complications diet therapy
diagnosis drug therapy
economics ethnology
embryology enzymology
epidemiology etiology
genetics history
immunology metabolism
microbiology mortality
nursing pathology
prevention & control physiopathology
parasitology psychology
radiography rehabilitation
radionuclide imaging radiotherapy
surgery therapy
urine ultrasonography
veterinary virology
Número do Registro:   38631 
Identificador Único:   D049290 

Ocorrência na BVS: 		 

Similar:
  
DeCS SciELO LILACS LIS