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Enzyme replacement therapy for Anderson-Fabry disease.
(2013-04-03)
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. ...
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study
(2017-01-01)
Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha- L-iduronidase, iduronate-2-sulfatase and N-acetylgalactosamine-4-sulfatase, respectively, and generally involve progressive and ...
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)
Contribution of inflammatory pathways to Fabry disease pathogenesis
(Academic Press Inc Elsevier Science, 2017-11)
Lysosomal storage diseases are usually considered to be pathologies in which the passive deposition of unwanted materials leads to functional changes in lysosomes. Lysosomal deposition of unmetabolized glycolipid substrates ...
Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I
(B M J Publishing GroupLondonInglaterra, 2011)
The renin-angiotensin system plays a major role in voiding dysfunction of ovariectomized rats
(Pergamon-elsevier Science LtdOxfordInglaterra, 2013)
Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint
(Elsevier Science IncNew YorkEUA, 2013)
The cost-effectiveness of enzyme replacement therapy (ert) for the infantile form of pompe disease: comparing a high-income country’s approach (england) to that of a middleincome one (colombia)
(Revista de Salud Pública, 2012)
Objectives Determining the cost-effectiveness of enzyme replacement therapy (ERT) for the classical infantile form of Pompe disease (complete acid α-glucosidase defi ciency-related) in two different settings: England and ...