|
1 / 1
|
DeCS
|
|
 |
|
Descritor Inglês:
|
|
Sialic Acid Storage Disease
|
|
Descritor Espanhol:
|
|
enfermedad por almacenamiento de ácido siálico
|
|
Descritor Português:
|
|
Doença do Armazenamento de Ácido Siálico
|
|
Sinônimos Inglês:
|
|
Finnish Type Sialuria
Finnish Type Sialurias
French Type Sialuria
Infantile Form Sialuria
Infantile Form Sialurias
Infantile Sialic Acid Storage Disease
Infantile Sialic Acid Storage Disorder
Infantile Sialic Acid Storage Disorder (ISSD)
Salla Disease
Sialic Acid Storage Disease, Finnish Type
Sialic Acid Storage Disease, Infantile Form
Sialuria
Sialuria, Finnish Type
Sialuria, Infantile Form
Sialurias
Sialurias, Finnish Type
Sialurias, Infantile Form
|
|
Categoria:
|
|
C10.228.140.163.100.435.810
C16.320.565.189.435.810
C16.320.565.595.554.810
C18.452.132.100.435.810
C18.452.648.189.435.810
C18.452.648.595.554.810
|
|
Definição Inglês:
|
|
Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided. |
|
Nota Histórica Inglês:
|
|
2002
|
|
Qualificadores Permitidos Inglês:
|
|
|
|
Número do Registro:
|
|
36010
|
|
Identificador Único:
|
|
D029461
|
Ocorrência na BVS:
|
|
|
Similar:
|
|
DeCS
|