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

Meet Makayla Gunn

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two.   At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words.  She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it.  Then she suddenly stopped all of that.  At her 2 year old check-up, the pediatrician referred us to BabyNet, ...

In The News