Alpha-mannosidosis
id:
alpha-mannosidosis-162-11647381
title:
Alpha-mannosidosis
text:
Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency. Consequently, if both parents are carriers, there will be a 25% chance with each pregnancy that the defective gene from both parents will be inherited, and the child will develop th
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Alpha-mannosidosis
date created:
2004-09-16T19:31:13Z
date modified:
2024-08-27T22:28:52Z
main entity:
{"identifier":"Q250449","url":"https://www.wikidata.org/entity/Q250449"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/3/3e/Autorecessive.svg","width":1350,"height":1580}
fields total:
13
integrity:
16