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AXD [1 record]

Filter results by subject field Alphabetical list of terms

Filter results by subject field

Alphabetical list of terms

Record 1 2019-12-05

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
  • Nervous System
CONT

Alexander disease is a rare leukodystrophy characterized by Rosenthal fiber accumulation in astrocytes, secondary to glial fibrillary acidic protein (GFAP) gene mutations.

OBS

Based on the age of onset and [the] type of symptoms present, ALX [can be] classified into three forms: infantile, juvenile, and adult.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
  • Système nerveux
CONT

La maladie d'Alexander est une pathologie rare, liée à une mutation du gène GFAP (glial fibrillary acidic protein [protéine acide gliofibrillaire]). Dans sa forme typique, il s'agit d'une leucodystrophie infantile rapidement fatale, caractérisée par l'accumulation de fibres de Rosenthal.

Spanish

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