Depending on the mucopolysaccharidosis subtype, affected individuals may have normal intellect or have cognitive impairments, may experience developmental delay, or may have severe behavioral problems.
12.
BioMarin was the first company to provide therapeutics for mucopolysaccharidosis type I ( MPS I ), by manufacturing laronidase ( Aldurazyme, commercialized by Genzyme Corporation ).
13.
Other causes include mucopolysaccharidosis, neurofibromatosis, Simpson-Golabi-Behmel syndrome, Triploid Syndrome, trisomy 4p, fucosidosis, alpha-mannosidosis, Klippel-Trenaunay-Weber syndrome,
14.
She has contributed to articles on the management of mucopolysaccharidosis type II ( Hunter syndrome ) and assessment of neurodevelopment in lysosomal storage diseases and related disorders using standardized and validated tools.
15.
Subjects with a mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly.
16.
Defects in this gene are the cause of mucopolysaccharidosis type IIIB ( MPS-IIIB ), also known as Sanfilippo syndrome B . This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate.
17.
"' Maroteaux Lamy syndrome "'( also known as mucopolysaccharidosis type VI, MPS VI, or polydystrophic dwarfism ) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B ( ARSB ).
18.
"' Maroteaux Lamy syndrome "'( also known as mucopolysaccharidosis type VI, MPS VI, or polydystrophic dwarfism ) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B ( ARSB ).
19.
David Sillence has served on the boards, Medical and Scientific Advisory Committees of OI Society, Association of Persons with Short Stature, Mucopolysaccharidosis Society of Australia, Huntington Disease Association of NSW and Association of Genetic Support of Australasia.
20.
He currently serves on the education committee of the Human Genetics Society of Australasia, the International Nomenclature Committee for Constitutional Disorders of the Skeletal, the International Mucopolysaccharidosis type I expert committee, the National Fabry Disease and MPS expert committees for the LSDP.
