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Search results for "Enzyme replacement therapy"

Acid sphingomyelinase ( ASM ) deficient Niemann-Pick disease ( NPD ) is caused by SMPD1 gene mutations and subsequent acid sphingomyelinase deficiency. It is a rare autosomal recessive disorder, usual ...


Fabry disease is a rare X-linked hereditary disease caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase. Males with classical disease are severely affected, while in ...


Enzyme replacement therapy ( ERT ) is the standard therapy for Fabry disease. Enzyme replacement therapy partially cleared microvascular deposits of GL-3 from the heart, kidney and skin of most Fabry ...


Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal hydrolase alpha-L-iduronidase ( IDUA ). The progressive accumulation ...


The FDA ( Food and Drug Administration ) has approved Cerdelga ( Eliglustat ) capsules, the only first-line oral therapy for certain adult Gaucher disease type 1 patients. A small number of adult pa ...


The FDA ( Food and Drug Administration ) has approved Cerdelga ( Eliglustat ) capsules, the only first-line oral therapy for certain adult Gaucher disease type 1 patients. A small number of adult pati ...


The results from the ENCORE study exploring Cerdelga ( Eliglustat ) as a maintenance therapy suitable for adult patients who had reached pre-specific treatment goals on enzyme replacement therapy ( ER ...


A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease ( LOPD ) in a large high-risk population, using the dried blood spot ( DBS ) as a main screening tool. ...


The FDA ( Food and Drug Administration ) has granted Breakthrough Therapy designation to Olipudase alfa. This enzyme replacement therapy is being investigated for the treatment of patients with non-ne ...