mucopolysaccharidosis वाक्य

उदाहरण वाक्य

1. Mutations in the gene encoding this enzyme cause mucopolysaccharidosis IIIC.
2. Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome.
3. Wikipedia was cited in a peer-reviewed, published article on mucopolysaccharidosis enzyme-replacement therapy.
4. Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small an amount or is missing altogether.
5. The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate.
6. A medical condition known as mucopolysaccharidosis type IV, which he described, was named Morquio syndrome in his honor.
7. An arylsulfatase B deficiency can lead to an accumulation of GAGs in lysosomes, which in turn can lead to mucopolysaccharidosis VI.
8. Deficiency of this enzyme results in the accumulation of undergraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID ( Sanfilippo D syndrome ).
9. Escolar has particular expertise in Krabbe disease but also sees patients with other neurodegenerative diseases including metachromatic leukodystrophy, adrenoleukodystrophy, and mucopolysaccharidosis disorders.
10. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked mucopolysaccharidosis type II, also known as Hunter syndrome.