What is Gangliosidosis GM2? GM2 gangliosidosis is a progressive neurodegenerative disease from the group of gangliosidosis, which in its classic infantile form usually leads to death at the age of 2–3 years. The incidence is
Continue readingWhat is Niemann’s Disease – Pick (Sphingomyelinosis)? Niman’s disease – Pick (sphingomyelinosis) (early childhood form). The incidence is 1 case per 100,000 children. The disease was described by A. Niemann in 1914 and in 1922.
Continue readingWhat is I-cell Disease (Type II Mucosolipidosis)? I-cell disease (type II mucosolipidosis) is a disease that is associated with impaired cleavage of mucopolysaccharides and sphingoglycolipids. In this regard, it is clinically manifested by symptoms characteristic
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