Results for Glycosylation

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Joseph W. St. Geme, III, MD
Joseph W. St. Geme

Dr. St. Geme's research focuses on bacterial pathogenesis, with an emphasis on defining the molecular and cellular determinants of Haemophilus influenzae and Kingella kingae disease.

E-mail:
stgemeIIIj [at] chop.edu

Snapshot Science: Did Scientists Find a New Congenital Disorder of Glycosylation?

Published on
Sep 7, 2021
in Cornerstone Blog
Scientists discover new congenital disorder of glycosylation.
Scientists identified a new genetic variant linked to congenital disorders of glycosylation.

New Genetic Syndrome Linked to Developmental Delay, Intellectual Disability

Published on
Apr 27, 2020
in Cornerstone Blog
Glycosylation
A protein defect affects a process called glycosylation, and results in developmental delay and intellectual disability.

Natural History of PMM2-Congenital Disorder of Glycosylation

The goal of this natural history study is to collect clinical and biological information from patients with PMM2-CDG over 3 years.

Omics Study For CDG Patient

Omics Study For CDG Patient

This is an intergrated study of patients with congenital glycosylation disorder.

St. Geme Laboratory

St. Geme Lab

The St. Geme Lab focuses on bacterial pathogenesis, with an emphasis on defining the molecular and cellular determinants of Haemophilus influenzae and Kingella kingae disease.

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