Article
Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.
BMC medical genetics - 23 Jun 2020
Ge Haixia, Wu Qingbin, Lu Huigang, Huang Yong, Zhou Tingting, Tan Danlin, ZhongqinJin
Abstract excerpt
BACKGROUND: NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor growth. This study presents a 10-month-old female infant with elevated liver transaminases, developmental delay, epilepsy (subclinical seizures), and constipation who...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.