1 document found, page 1 of 1

Sort by Issue Date
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potenti...

Brusius-Facchin,Ana Carolina; Siebert,Marina; Leão,Delva; Malaga,Diana Rojas; Pasqualim,Gabriela; Trapp,Franciele; Matte,Ursula; Giugliani,Roberto

Abstract Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of these enzymes will result in the abnormal accumulation of GAGs inside the lysosomes of most cells, inducing progressive cellular damage and multiple organ failure. DNA samples from 70 p...

Date: 2019   |   Origin: Oasisbr
More info.
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

1 Results

Queried text

Refine Results

Author










Date


Document Type


Access rights


Resource


Subject