Cochrane Database Syst Rev 2017 11 20;11:CD011539. Epub 2017 Nov 20.
Department of Pharmacy, West China Second University Hospital, Sichuan University, No. 20, Section 4, Renmin South Road, Chengdu, China, 610041.
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Cochrane Database Syst Rev 2016 Jul 25;7:CD006663. Epub 2016 Jul 25.
Department of Anaesthesiology, Botucatu Medical School, UNESP - Univ Estadual Paulista, Distrito de Rubião Júnior, s/n, Botucatu, Brazil, 18603-970.
Background: Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism. Progressive renal insufficiency is a major source of morbidity, additional complications result from cardio- and cerebro-vascular involvement. Survival is reduced among affected males and symptomatic female carriers. Read More
Cochrane Database Syst Rev 2015 Mar 27(3):CD010324. Epub 2015 Mar 27.
Israel Defense Forces Medical Corps, Haifa, Israel.
Background: Gaucher disease, a rare disorder, is caused by inherited deficiency of the enzyme glucocerebrosidase. It is unique among the ultra-orphan disorders in that four treatments are currently approved by various regulatory authorities for use in routine clinical practice. Hitherto, because of the relatively few people affected worldwide, many of whom started therapy during a prolonged period when there were essentially no alternatives to imiglucerase, these treatments have not been systematically evaluated in studies such as randomized controlled trials now considered necessary to generate the highest level of clinical evidence. Read More
Cochrane Database Syst Rev 2016 Mar 4;3:CD009806. Epub 2016 Mar 4.
Universidade Federal de São Paulo, Dr Wladimir dos Santos Mello 122, São Paulo, São Paulo, Brazil, 04112-030.
Background: Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is a rare genetic disorder caused by the deficiency of arylsulphatase B. The resultant accumulation of dermatan sulphate causes lysosomal damage.The clinical symptoms are related to skeletal dysplasia (i. Read More
Cochrane Database Syst Rev 2016 Feb 5;2:CD008185. Epub 2016 Feb 5.
Emergency Medicine and Evidence Based Medicine, Universidade Federal de São Paulo, Rua Borges Lagoa 564 cj 64, Vl. Clementino, São Paulo, São Paulo, Brazil, 04038-000.
Background: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. The glycosaminoglycans accumulate within tissues affecting multiple organs and physiologic systems. The clinical manifestations include neurologic involvement, severe airways obstruction, skeletal deformities and cardiomyopathy. Read More