101 results on '"Martins, Ana Maria"'
Search Results
2. A phase 2 clinical study in Niemann-Pick disease type C and GM2 gangliosidosis patients (RAINBOW)
3. Time-driven activity-based costing (TDABC) of current clinical practice for mucopolysaccharidosis type II patients assisted at one institution of the Brazilian Public Healthcare System: Data from JAV-RARAS Study
4. Efficacy and safety data (52-week) from a phase 1/2 trial and extension study of JR-171 (lepunafusp alfa) used in enzyme replacement therapy for patients with MPS I
5. Maple Syrup Urine Disease Diagnosis in Brazilian Patients by Massive Parallel Sequencing
6. Global reach of over 20 years of experience in the patient-centered Fabry registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community
7. Long-term neurodevelopmental changes in subjects with MPS II following long-term treatment with pabinafusp alfa: An integrated analysis from pre- and post-approval clinical trials in Brazil and Japan
8. Rapid disease progression after enzyme replacement therapy interruption in a patient with cholesteryl ester storage disorder
9. Changes in quality of life reflecting neurobehavioral improvements observed by caregivers/physicians of patients with neuronopathic mucopolysaccharidosis: An interview-based survey from Brazil following clinical trials with pabinafusp alfa
10. Genetics-based infusion centers: Report of 16 years experience of one Brazilian center
11. Frog Hepatic Health and Metal Pollution: An Assemblage-Level Approach in a Hotspot in Southeastern Brazil
12. Vaccination strategies for people living with inborn errors of metabolism in Brazil
13. ROLE OF BRAIN EXTRACELLULAR MATRIX GLYCOPROTEINS IN THE PSYCHIATRIC SYMPTOMS IN FABRY DISEASE
14. Functional characterization of novel variants found in patients with suspected Fabry disease
15. New field technique to evaluate the action of the fungus Metarhizium anisopliae on Rhipicephalus (Boophilus) microplus tick
16. Natural history of Gaucher disease: Description of patients followed at a reference center in São Paulo
17. Clinical and laboratory profile of a pediatric Fabry disease cohort followed at a Brazilian reference center
18. Targeting efforts in rescue programmes mitigating light-induced seabird mortality: First the fat, then the skinny
19. Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II
20. Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 1,008 infusions
21. Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil
22. Exploration of the efficacy of pabinafusp-alfa (JR-141) on neurocognitive development in Hunter syndrome (MPS II): 52-week data from clinical trials in Japan and Brazil
23. Drug delivery across the blood-brain barrier and resultant reduction of heparan sulfate in the cerebrospinal fluid in the patients with Hunter syndrome (MPS II): An integrated analysis of 25-week Japanese and Brazilian data on pabinafusp alfa (JR-141)
24. Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype
25. Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers
26. Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America
27. Follicular helper T-cell and B-cell subsets in mucopolysaccharidosis patients
28. Pulmonary function and functional capacity in patients with mucopolysaccharidosis
29. Infantile-onset Pompe disease and CRIM negative status: Immunomodulation with intravenous immunoglobulin as an alternative for regular immune tolerance induction
30. Brain MRI findings in patients with mucopolysaccharidosis type VI (MPS VI)
31. Results from a phase 2 trial of a blood-brain barrier penetrating enzyme (JR-141) in patients with MPS II in Brazil
32. Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1
33. PS-196-Efficacy and safety of sebelipase alfa over 144 weeks in a diverse population of children and adults with lysosomal acid lipase deficiency
34. Poor specific antibody response in patients with mucopolysaccaridosis
35. Clinical profile of mucopolysaccharidosis type I patients from a Brazilian reference center
36. DOR NEUROPÁTICA E REICIDIVA EM HANSENÍASE – RELATO DE CASO
37. DOR NEUROPÁTICA: SEQUELAS DE UMA DOENÇA ENDÊMICA NO BRASIL
38. PERFIL EPIDEMIOLÓGICO DA HANSENÍASE EM MENORES DE 15 ANOS NA CAPITAL DO ESTADO MAIS HIPERENDÊMICO
39. HANSENÍASE COMO DIAGNÓSTICO DIFERENCIAL EM CRIANÇAS E ADOLESCENTES: EVOLUÇÕES DISTINTAS EM DOIS CASOS NA MESMA FAMÍLIA
40. In silico and in vitro analysis of a novel GLA missense mutation in patients with severe renal involvement
41. Mainstreaming climate adaptation in the megacity of São Paulo, Brazil
42. Identification of a novel GLA mutation in a family with classical phenotype of Fabry disease
43. Can a mucopolysaccharidosis also be a primary immunodeficiency?
44. Pulmonary repercussions in patients with Fabry disease
45. Audiometric evaluation in individuals with mucopolysaccharidosis
46. Politics of drought under Bolsa Família program in Northeast Brazil
47. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference
48. Hypersensitivity reactions to Enzyme Replacement Therapy for Lysosomal Diseases in Brazil: Outcomes and safety in 1140 rapid desensitizations
49. Hypersensitivity reactions to enzyme replacement therapy for lysosomal diseases in Brazil: outcomes and safety of 1,140 rapiddesensitizations
50. Presence of the mutation c.1-769G>/;C in the promoter region of the GLA gene could be responsible for the α-galactosidase-A deficiency in Fabry patients
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