Now showing items 1-10 of 116
Pompe disease: Clinical perspectives
(Dove Medical, 2017)
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage ...
Enzyme replacement therapy for Anderson-Fabry disease.
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. ...
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
(Molecular Genetics and Metabolism, 2013)
Kidney Function and 24-Hour Proteinuria in Patients with Fabry Disease during 36 Months of Agalsidase Alfa Enzyme Replacement Therapy: A Brazilian Experience
(TAYLOR & FRANCIS INC, 2009)
Background. Prior to the introduction of enzyme replacement therapy (ERT), management of Fabry disease (FD) consisted of symptomatic and palliative measures. ERT has been available for several years using recombinant human ...
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
(Sociedade Brasileira de Genética, 2014)