112 results on '"Giugliani, Roberto"'
Search Results
2. Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey
3. GM1 ‐gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat
4. The Mucopolysaccharidoses
5. Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system
6. Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
7. Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network
8. Clinical trials for genetic diseases in Latin America
9. Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region
10. Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome
11. Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis
12. Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinctGLB1‐related phenotype
13. Disruption of morphogenic and growth pathways in lysosomal storage diseases
14. Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling
15. Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency
16. Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy
17. Nanoparticles containing β‐cyclodextrin potentially useful for the treatment of Niemann‐Pick C
18. Estimated birth prevalence of mucopolysaccharidoses in Brazil
19. Clinical findings in Brazilian patients with adult GM1 gangliosidosis
20. Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
21. Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report
22. Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)
23. Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann‐Pick type C patients
24. Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells
25. Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII
26. Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I
27. Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry
28. Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome
29. Understanding the natural history of Gaucher disease
30. Genetic causes of intellectual disability in a birth cohort: A population‐based study
31. International guidelines for the management and treatment of Morquio A syndrome
32. Look carefully to the heels! A potentially treatable cause of spastic paraplegia
33. 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
34. Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
35. Non‐immune hydrops fetalis: A prospective study of 53 cases
36. Characterization of joint disease in mucopolysaccharidosis type I mice
37. Diagnosing mucopolysaccharidosis IVA
38. Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI
39. Respiratory and sleep disorders in mucopolysaccharidosis
40. Important aspects in the molecular diagnosis of mucopolysaccharidoses
41. Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits
42. Severe phenotype in MPS II patients associated with a large deletion including contiguous genes
43. Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America
44. The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil
45. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
46. Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI
47. Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases
48. Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations
49. Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy
50. Inborn errors of metabolism in Latin America: challenges and opportunities
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