Clara Sá-Miranda
0000-0003-0123-5525
Publication & Citation Trends
Publications
169 total
Description of a new mutation in a female patient with Fabry disease OA
Cited by 0
Semantic Scholar
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. OA
Cited by 102
Semantic Scholar
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Cited by 205
Semantic Scholar
Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study
Cited by 363
OpenAlex
Direct Comparison of Measures of Endurance, Mobility, and Joint Function During Enzyme-Replacement Therapy of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Results After 48 Weeks in a Phase 2 Open-Label Clinical Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase OA
Cited by 208
Semantic Scholar
Research Topics
Lysosomal Storage Disorders Research
(93)
Peroxisome Proliferator-Activated Receptors
(38)
Glycosylation and Glycoproteins Research
(28)
Trypanosoma species research and implications
(28)
Carbohydrate Chemistry and Synthesis
(27)
Affiliations
Rutgers, The State University of New Jersey
University of Padua
Universidad Publica de Navarra
Universidade do Porto
Johannes Gutenberg University Mainz