Heterogenity in Congenital Disorders of Glycosylation

Human Genome Research

Investigators

Linked publications & trials

Abstract

We continue to explore the heterogenous clinical, molecular and biochemical features of Congenital Disorders of Glycosylation. This work has led to the organization of an Office of Rare Disease Sponsored Workshop on clinical management of these patients. We have published 2 papers; one on a novel mutation of PMM2 in CDG1A in the first identified African American patients ( AJMG, in press) and the other of the neurologic sequelae of stroke-like episodes in a young child with CDG 1A ( Neurology, in press).