Atypical Gaucher disease due to saposin C deficiency

Tamargo RJ, Velayati A, Goldin E & Sidransky E.. The role of saposin C in Gaucher disease Mol Genet Metab. July, 2012; 106(3). 257-63. Reference Link

Connect with other users with Atypical Gaucher disease due to saposin C deficiency on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App