Ensaios clínicos Online

“An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States” – LINK

“Newborn screening in mucopolysaccharidoses” – LINK

“Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights” – LINK

“Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome” – LINK

“Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison” – LINK A CONSULTAR

“Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI” – LINK

“A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI” – LINK

“The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)” – LINK

“Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study” – LINK

“Early higher dosage of alglucosidase alpha in classic Pompe disease” – LINK

“36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry” – LINK

“Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment?” – LINK

“Pompe Disease: From Basic Science to Therapy” – LINK

“Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up” – LINK

“Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review” – LINK

“Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect” – LINK

“Consensus clinical management guidelines for Niemann-Pick disease type C” – LINK

“Searching for an additional treatment to slowing the progression of Fabry disease” – LINK

“Identification of new α-galactosidase A mutation responsible for Fabry disease: A case report” – LINK

“High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease” – LINK

“Long-Term Effects of Enzyme Replacement Therapy for Anderson-Fabry Disease” – LINK

“Hunter Syndrome: Is It Time to Make It Part of Newborn Screening?” – LINK

“Validation of the shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS)” – LINK

“Significance of Provocative Perfusion Computed Tomography for Evaluation of Bow Hunter Syndrome” – LINK

“Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensos” – LINK

“Attenuated form of type II mucopolysaccharidoses (Hunter syndrome): pitfalls and potential clues in diagnosis” – LINK

“A Natural History Study of the Gangliosidoses” (estudo a decorrer) – LINK

“Pyrimethamine as a Treatment for Late-Onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease) – LINK

“HSCT for High Risk Inherited Inborn Errors” – LINK

“Gene Therapy for Tay-Sachs Disease” – LINK

“N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease)” – LINK

“Combined beta-glucosylceramide and ambroxol hydrochloride in patients with Gaucher related Parkinson disease: From clinical observations to drug development” – LINK

“How we manage Gaucher Disease in the era of choices” – LINK

“Pharmacological treatment of pediatric Gaucher disease” – LINK

“Gaucher Disease” – LINK