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DeCS
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Descriptor Inglés:
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Sialic Acid Storage Disease
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Descriptor Español:
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Enfermedad por Almacenamiento de Ácido Siálico
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Descriptor Portugués:
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Doença do Armazenamento de Ácido Siálico
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Sinónimos Inglés:
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Infantile Sialic Acid Storage Disease
Salla Disease
Sialic Acid Storage Disease, Finnish Type
Sialic Acid Storage Disease, Infantile Form
Sialuria
Sialuria, Finnish Type
Sialuria, Infantile Form
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Categoría:
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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
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Definición Inglés:
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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. |
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Nota Histórica Inglés:
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2002
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Calificadores Permitidos Inglés:
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Número del Registro:
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36010
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Identificador Único:
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D029461
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Ocurrencia en la BVS:
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DeCS SciELO LILACS LIS
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