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Publications tagged with this subject: 16

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1. A case of rapid progression of Fabry nephropathy with remarkable glomerulomegaly: a case report and mini literature review of weak response to enzyme replacement therapy (ERT)

2. Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report

3. Immune Suppression During Preclinical Drug Development Mitigates Immunogenicity-Mediated Impact on Therapeutic Exposure

4. Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data

5. Treatment Opportunities in Patients With Metabolic Myopathies

6. Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa

7. Open issues in Mucopolysaccharidosis type I-Hurler

8. A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation

9. How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID)

10. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

11. Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome

12. Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

13. Newborn screening for Fabry disease in the north-west of Spain

14. Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients

15. Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy

16. Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry


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