FCDGC: MAN2A2 Enzyme Variant Causes New Type of Congenital Disorder of Glycosylation

Dec 5, 2022 · 1m 56s
FCDGC: MAN2A2 Enzyme Variant Causes New Type of Congenital Disorder of Glycosylation
Description

New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Medical Genetics on November 10, 2022,...

show more
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Medical Genetics on November 10, 2022, titled "Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement."

Read the paper here: https://jmg.bmj.com/content/early/2022/11/10/jmg-2022-108821

Learn more about FCDGC: https://www.rarediseasesnetwork.org/fcdgc
show less
Information
Author RDCRN
Organization RDCRN
Website -
Tags

Looks like you don't have any active episode

Browse Spreaker Catalogue to discover great new content

Current

Podcast Cover

Looks like you don't have any episodes in your queue

Browse Spreaker Catalogue to discover great new content

Next Up

Episode Cover Episode Cover

It's so quiet here...

Time to discover new episodes!

Discover
Your Library
Search