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MALADIE SCHOLZ [1 record]

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Record 1 1998-03-03

English

Subject field(s)
  • Nervous System
DEF

An autosomal recessive disorder, due to deficiency of cerebroside sulfatase or sphingolipid activator protein-1, characterized by sulfatide in neural and nonneural tissue, with a diffuse loss of myelin in the central nervous system.

French

Domaine(s)
  • Système nerveux
DEF

Affection héréditaire à transmission autosomique récessive, qui s'apparente à la fois aux sphingolipidoses (puisqu'elle comporte une accumulation anormale de composés lipidiques liée à un déficit en aryl-sulfatase) et aux leucodystrophies (puisque à l'examen anatomopathologique, il existe avant tout un trouble de la myélinisation).

Spanish

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