Longitudinal Studies of the Glycoproteinoses

This project seeks to obtain clinical and laboratory information about individuals affected with a glycoprotein storage disorder including aspartyglucosaminuria, fucosidosis, galactosialidosis, alpha-mannosidosis, beta-mannosidosis, mucolipidosis II, mucolipidosis III, Schindler disease, and sialidosis.

Study Participation

Eligible participants include individuals that have been diagnosed with a glycoprotein storage disorder.

For more information, please contact Dr. Sara Cathey, project investigator, at 1-866-588-4363 (toll free) or scathey@ggc.org

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After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky....
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