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Lysosomal storage disease   New Search

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Publications tagged with this subject: 16

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1. Auditing the frequency and the clinical and economic impact of testing for Fabry disease in patients under the age of 70 with a stroke admitted to Saint Vincent’s University Hospital over a 6-month period

2. Metabolic progression to clinical phenotype in classic Fabry disease

3. A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene

4. GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies

5. Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

6. 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

7. Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

8. Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment

9. Mutational analysis of the GLA gene in Mexican families with Fabry disease

10. Cryo-EM structures of the mammalian endo-lysosomal TRPML1 channel elucidate the combined regulation mechanism

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

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

13. Comparative studies of vertebrate iduronate 2-sulfatase (IDS) genes and proteins: evolution of A mammalian X-linked gene

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

15. Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naïve Fabry disease patients

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


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