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Mucopolysaccharidosis Type IIIA
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures. (NCI Thesaurus)
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The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases…
A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides…
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An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and ophthalmologic…
A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and…
The interface between the more apically located alveolar mucosa and the more coronally located gingiva.
