Sialidosis, a new type of inborn disease.
We describe the biochemical findings concerning five different types of mucolipidosis which have been defined as sialidosis on the basis of the specific enzyme deficiency and the nature of the storage material.
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006026:Glycoside Hydrolases; D006801:Humans; D007223:Infant; D008968:Molecular Conformation; D009081:Mucolipidoses / Q000175:diagnosis* / Q000652:urine; D009844:Oligosaccharides / Q000652:urine*; D012794:Sialic Acids / Q000652:urine*
D009844:Oligosaccharides; D012794:Sialic Acids; D006026:Glycoside Hydrolases