English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

1016-3190/$ e see front matter Copyright 2012, Bu doi:10.1016/j.tcmj.2012.04.002 Type 2 mucopolysaccharidosis (MPS), also calledHunter syndrome (MIM:309900), is a rare X-linked genetic disorder caused by mutation in the iduronate 2-sulfatase gene (IDS: 300823). The gene encodes for the lysosomal enzyme iduronate 2-sulfatase (I2S), which is responsible for degradation of the glycosaminoglycans (GAGs) heparin sulphate (HS) and dermatan sulphate (DS). Consequent accumulation of GAGs leads to pathologic changes in multiple organ systems. Clinically, patients often present with dysmorphic facial features (Fig. 1), skeletal deformities, joint stiffness, and short stature. Other clinical manifestations include valvular heart disease and hypertrophic cardiomyopathy, obstructive sleep apnea due to airway obstruction, and variable neurologic deficits such as mild to profound mental retardation. Diagnosis of MPS includes analysis of urine GAGs, enzyme assay from leukocytes or culture fibroblasts, and gene analysis of the IDS gene. Before the era of enzyme replacement therapy (ERT), patients usually died during the second decade of life due to cardiopulmonary failure. ERT with recombinant I2S [idursulfase (Elaprase, Shire Human Genetic Therapies, Inc, Lexington, MA, USA)] has been used in patients with type 2 MPS since 2006. Its chief value is in improving patient quality of life, with an increased 6-minute walking distance and improved range of motion of joints. ERT has also been found to decrease urinary GAG secretion and reduce disease severity with less hepatosplenomegaly and improved pulmonary function, such as in the predicted force vital capacity. The disadvantages of ERT include the inconvenience of weekly infusions of the enzyme. Infusion-related reactions include headache, pruritus, and urticaria,

Postenzyme replacement therapy era for type 2 mucopolysaccharidosis