Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage diseases (LSD)
caused by genetic defects. These genetic defects lead to a lack or deficiency of enzymes …

MPS disorders are associated with a wide spectrum of neurocognitive effects, from mild
problems with attention and executive functions to progressive and degenerative …

Mucopolysaccharidosis type IIIA is a severe degenerative disease caused by an autosomal
recessive defect of a gene encoding a lysosomal heparan-N-sulfamidase, the N …

Данные клинические рекомендации подготовлены совместно с Всероссийской
ассоциацией для больных муковисцидозом, рассмотрены и утверждены на заседании …

Neurometabolic diseases (NMDs) are typically caused by genetic abnormalities affecting
enzyme functions, which in turn interfere with normal development and activity of the …

Abstract Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal
storage disorder, caused by a deficiency in one of the four enzymes involved in the …

Mucopolysaccharidoses (MPS) are inborn errors of metabolism produced by a deficiency of
one of the enzymes involved in the degradation of glycosaminoglycans (GAGs). Although …

Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive
decline and severe hyperactivity that does not respond to stimulants. Somatic features are …

Objectives To characterize the clinical course of mucopolysaccharidosis type IIIA (MPS IIIA),
and identify potential endpoints for future treatment trials. Study design Children with a …

Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, refers to one of five
autosomal recessive, neurodegenerative lysosomal storage disorders (MPS IIIA to MPS IIIE) …