47 results on '"Giugliani, Roberto"'
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2. Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)
3. Gene editing of MPS I human fibroblasts by co-delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide using nanoemulsions as nonviral carriers
4. Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis
5. Understanding the natural history of Gaucher disease
6. Genetic causes of intellectual disability in a birth cohort: A population-based study
7. International guidelines for the management and treatment of Morquio A syndrome
8. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome)—10-year follow-up of patients who previously participated in an MPS VI survey study†
9. Non-immune hydrops fetalis: A prospective study of 53 cases
10. Characterization of joint disease in mucopolysaccharidosis type I mice
11. Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint
12. Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint
13. Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice
14. Severe phenotype in MPS II patients associated with a large deletion including contiguous genes
15. Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase Correct Enzyme Deficiency in Human Mucopolysaccharidosis Type I Cells
16. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
17. The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil
18. Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases
19. Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI
20. Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations
21. Bone Marrow Mononuclear Cell Transplantation Improves Survival and Induces Hepatocyte Proliferation in Rats after CC14 Acute Liver Damage
22. Inborn errors of metabolism in Latin America: challenges and opportunities
23. Polymorphic Variants of UGT1A1 in Neonatal Jaundice in Southern Brazil
24. Effects of Cryopreservation and Hypothermic Storage on Cell Viability and Enzyme Activity in Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase
25. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase
26. The Brazilian Consensus on the Management of Pompe Disease
27. Consistency of self-reported first-degree family history of cancer in a population-based study
28. Urinary oligosaccharides: A peripheral marker for Sida carpinifolia exposure or poisoning
29. In vitro correction of ARSA deficiency in human skin fibroblasts from Metachromatic Leukodystrophy patients after treatment with microencapsulated recombinant cells
30. Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression
31. Mucopolysaccharidoses in Brazil: What Happens From Birth to Biochemical Diagnosis?
32. Magnetic resonance imaging findings in Hunter syndrome
33. Hexacosanoic and docosanoic acids plasma levels in patients with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzoʼs oil effect
34. Mutational Analysis of 105 Mucopolysaccharidosis Type VI Patients
35. Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy
36. Clinical Characterization and Risk Profile of Individuals Seeking Genetic Counseling for Hereditary Breast Cancer in Brazil
37. A clinical study of 77 patients with mucopolysaccharidosis type II
38. Further Cases of “Neighbor” Mutations in Mucopolysaccharidosis Type II
39. 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
40. Specificity and sensitivity of S100B levels in amniotic fluid for Down syndrome diagnosis
41. In Reply
42. Renal-Coloboma Syndrome in a Brazilian Family
43. Glycosidase active site mutations in human α-L-iduronidase
44. Effects of imilglucerase withdrawal on an adult with gaucher disease
45. Neurologic Findings in Machado-Joseph Disease: Relation With Disease Duration, Subtypes, and (CAG)n
46. Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations
47. Protracted Course of Krabbe Disease in an Adult Patient Bearing a Novel Mutation
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