mucopolysaccharidosis sentence in Hindi
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- Mutations in the gene encoding this enzyme cause mucopolysaccharidosis IIIC.
- Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome.
- Wikipedia was cited in a peer-reviewed, published article on mucopolysaccharidosis enzyme-replacement therapy.
- Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small an amount or is missing altogether.
- The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate.
- A medical condition known as mucopolysaccharidosis type IV, which he described, was named Morquio syndrome in his honor.
- An arylsulfatase B deficiency can lead to an accumulation of GAGs in lysosomes, which in turn can lead to mucopolysaccharidosis VI.
- Deficiency of this enzyme results in the accumulation of undergraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID ( Sanfilippo D syndrome ).
- Escolar has particular expertise in Krabbe disease but also sees patients with other neurodegenerative diseases including metachromatic leukodystrophy, adrenoleukodystrophy, and mucopolysaccharidosis disorders.
- Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked mucopolysaccharidosis type II, also known as Hunter syndrome.
- 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.
- BioMarin was the first company to provide therapeutics for mucopolysaccharidosis type I ( MPS I ), by manufacturing laronidase ( Aldurazyme, commercialized by Genzyme Corporation ).
- Other causes include mucopolysaccharidosis, neurofibromatosis, Simpson-Golabi-Behmel syndrome, Triploid Syndrome, trisomy 4p, fucosidosis, alpha-mannosidosis, Klippel-Trenaunay-Weber syndrome,
- 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.
- 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.
- 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.
- "' 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 ).
- "' 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 ).
- 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.
- 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.
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