Glycoproteinosis [DOID:3343]
A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
Synonyms: glycoproteinosis, DOID:3343, glycoproteinosises, Mucolipidosis type I, sialidosis ...
Linkouts: OMIM #1 #2 #3 #4 #5