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 Hellenic Broadcasting Corporation Enzyme Lysosomal storage disease Gene Mucopolysaccharidosis Syndrome Glycogen storage disease type II Blood plasma Acid Splenomegaly Enzyme replacement therapy Hematopoietic stem cell Protein PH Antioxidant Fabry disease Globotriaosylceramide DNA Polymerase chain reaction Messenger RNA Hunter Region Obesity Hypertension Phenotype Vital capacity Gene therapy Central nervous system Metabolism Pharmacokinetics Diabetes mellitus type 2 X-ray crystallography Bone marrow CT scan Portal hypertension Myelofibrosis Lymphadenopathy
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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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