422 results on '"Filocamo, M."'
Search Results
2. Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia
3. New approach to bone marrow transplantation in thalassemia
4. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients
5. Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis
6. Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease
7. Hepatic and Neuromuscular Forms of Glycogenosis Type III: Nine Mutations in AGL
8. Mutation identification of Fabry disease in families with other lysosomal storage disorders
9. Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation
10. Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity
11. A new case report of severe mucopolysaccharidosis type VII: Diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy 11 Medical and Health Sciences 1114 Paediatrics and Reproductive Medicine
12. Mutations among Italian mucopolysaccharidosis type I patients
13. Molecular and Functional Characterization of Eight Novel GAA Mutations in Italian Infants with Pompe Disease
14. Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with PLP1 gene duplications
15. GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease
16. Movement and mood disorder in two brothers with Gaucher disease
17. Mutation Profile of the GAA Gene in 40 Italian Patients With Late Onset Glycogen Storage Disease Type II
18. Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta
19. Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1
20. Deletion of exons 11–17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease
21. Corrigendum: FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII) [Human Molecular Genetics, 27, 13, (2018) (2262-2275)] DOI: 10.1093/hmg/ddy131
22. Sjögren-Larsson syndrome: Nuclear magnetic resonance imaging of the brain in a 4-year-old boy
23. Radiological “metamorphosis” in a patient with severe congenital osteogenesis imperfecta
24. Preliminary Results of Gau-PED Study: Prevalence of Gaucher Disease in Paediatric Patients Selected By an Appropriate Diagnostic Algorithm
25. Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I
26. Comparison of the Activities of 15 Lysosomal Enzymes in Chorionic Villi and in Cultured Amniotic Fluid Cells
27. Incontinenza coitale: preva lenza e fattori di rischio in donne con incontinenza urinaria
28. Enuresis and urinary infections in childhood. Bad 'news' for young women?
29. Urological dysfunctions in young women. 'Is it an inheritance of childhood?'
30. VALIDAZIONE IN LINGUA ITALIANA DEL QUESTIONARIO PUF PER LA VALUTAZIONE DEL DOLORE PELVICO CRONICO
31. Optimizing the molecular diagnosis of GALNS: Novel methods to define and characterize morquio-A syndrome-associated mutations
32. UROLOGICAL DYSFUNCTIONS IN YOUNG WOMEN.' IS IT AN INHERITANCE OF CHILDHOOD?'
33. LE DISFUNZIONI UROLOGICHE NELLE DONNE GIOVANI: UN’EREDITà DELL’INFANZIA? PARTE I
34. NEOPLASIE RENALI E STILE DI VITA: DIFFERENZE TRA I DUE SESSI. ANALISI DESCRITTIVA DI UNA SERIE PROSPETTICA DI PAZIENTI SOTTOPOSTI A CHIRURGIA PER NEOPLASIA RENALE
35. Functional variants of the HMGA1 gene and type 2 diabetes mellitus
36. Molecular analysis of 82 mucopolysaccharidosis type I patients: multinational spectrum in the european population and identification of 28 novel mutations
37. Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
38. Mutational analysis of the GNPTG gene in patients with mucolipidosis III
39. Imino sugars deoxynojirimycin and N-butyldeoxynojirimycin enhance alpha-glucosidase activity in fibroblasts from patients with intermediate and late onset Pompe disease
40. Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations
41. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency
42. Rare compound heterozygosity for IVS2+1G>A and R170P in an Italian patient with Gaucher disease type I
43. Detection of carriers and prenatal diagnosis for fucosidosis in Calabria
44. A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene. J Med Genet 38: 34- 36, 2001
45. Mutation identification of Fabry disease in families with other lysosomal storage disorders
46. Glucocerebrosidase deficiency in zebrafish leads to primary osteogenic defects
47. Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I
48. Molecular defects in the alfa-N-acetylglucosaminidase gene
49. Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation
50. Prulifloxacin vs Phosphomycin: Prophylaxis in patients with recurrent UTI. Preliminary results of a randomized multi-centre study
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