Encephalopathy due to prosaposin deficiency (Q55455): Difference between revisions

From determinar.ia.br - Determine suas informações
‎Created a new Item
 
‎Changed label, description and/or aliases in pt-br, en
description / pt-brdescription / pt-br
 
A encefalopatia por deficiência de prosaposina é uma doença de depósito lisossomal pertencente ao grupo das esfingolipidoses e é uma doença neurovisceral grave que se manifesta imediatamente após o nascimento e segue um curso fatal de progressão muito rápida.
description / endescription / en
 
Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses, and is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course.

Revision as of 03:06, 14 August 2026

Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses, and is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course.
Language Label Description Also known as
default for all languages
ID_935370911
    English
    Encephalopathy due to prosaposin deficiency
    Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses, and is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course.

      Statements