This website provides information on patients with mutations in the NEU1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the NEU1 gene is a multisystem disorder which causes Sialidosis Type I and Type II.
Not all individuals with a mutation in the NEU1 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the NEU1 gene.
Janina Gburek-Augustat, MD, University Hospital for Children, Department of Neuropediatrics, Leipzig, Germany, Janina.Gburek-Augustat@medizin.uni-leipzig.de
I-Chun Lee, MD, Taichung Tzu Chi General Hospital, Department of Pediatrics, Taichung, Taiwan, ichunlee671@gmail.com