Mucolipidosis Type 4 Overview
Learn About Mucolipidosis Type 4
- Mucolipidosis type 4
- Berman syndrome
- Ganglioside neuraminidase deficiency
- Ganglioside sialidase deficiency
- ML 4
- Mucolipidosis type IV
Judith Klumperman practices in Utrecht, Netherlands. Klumperman and is rated as an Elite expert by MediFind in the treatment of Mucolipidosis Type 4. Her top areas of expertise are Mucolipidosis Type 4, Sialidosis, Mucolipidosis 3, and Arthrogryposis Multiplex Congenita.
Renata Velho practices in Berlin, Germany. Velho and is rated as an Elite expert by MediFind in the treatment of Mucolipidosis Type 4. Her top areas of expertise are Mucolipidosis Type 4, Mucolipidosis 3, Sialidosis, and Endometriosis.
Thomas Braulke practices in Hamburg, Germany. Braulke and is rated as an Elite expert by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Mucolipidosis Type 4, Mucolipidosis 3, Sialidosis, and CLN3 Disease.
Objectives: To study the natural history and progression of neurodegeneration in individuals with glycosphingolipid storage disorders (GSL), GM1 and GM2 gangliosidosis, and glycoprotein (GP) disorders including sialidosis and galactosialidosis using clinical evaluation of patients and patient/parent surveys. To develop sensitive tools for monitoring disease progression. To identify biological markers in blood...
Summary: Sialidosis type 1 is an autosomal recessive disorder caused by bialleic NEU1 gene mutations. Patients with sialidosis type I present variable neurological and eye dysfunction and the progression rate is variable. The goal of this protocol is to assess the neurological and ophthalmological status of these patients and characterize the clinical and laboratory abnormalities in order to determine the ...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center