39 results on '"Giugliani, Roberto"'
Search Results
2. Neonatal screening for spinal muscular atrophy: A pilot study in Brazil
3. COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
4. Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo's Oil
5. Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
6. Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations
7. Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays
8. Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer
9. Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil
10. Medical Genetics – Special issue dedicated to the 35th anniversary of the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
11. Lysosomal diseases: Overview on current diagnosis and treatment
12. Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases
13. Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
14. Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
15. Clinical research challenges in rare genetic diseases in Brazil
16. Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart
17. Population medical genetics: translating science to the community
18. Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report
19. Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
20. Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory
21. Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil
22. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
23. RELAGH - the challenge of having a scientific network in Latin America: an account from the presidents
24. Mucopolysacccharidoses: from understanding to treatment, a century of discoveries
25. Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy
26. Population analysis of the GLB1 gene in South Brazil
27. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
28. Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
29. Genomic rearrangements in BRCA1 and BRCA2: a literature review
30. Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital
31. Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
32. Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in patients from the southern Brazilian city of Porto Alegre, RS
33. Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA)
34. X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients
35. Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation
36. A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses
37. COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil.
38. ELAG - 10 Successful Years.
39. Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.
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