28 results on '"Filocamo, M."'
Search Results
2. Mutation identification of Fabry disease in families with other lysosomal storage disorders.
3. Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
4. Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
5. Enhancing Cranial Nerves and Cauda Equina: An Emerging Magnetic Resonance Imaging Pattern in Metachromatic Leukodystrophy and Krabbe Disease.
6. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.
7. Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
8. Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with PLP1 gene duplications.
9. GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
10. Movement and mood disorder in two brothers with Gaucher disease.
11. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
12. Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
13. Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
14. A New Approach to Bone Marrow Transplantation in Thalassemia.
15. Detection of carriers and prenatal diagnosis for fucosidosis in Calabria.
16. Mutations among Italian mucopolysaccharidosis type I patients.
17. Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases.
18. Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells.
19. Deletion of exons 11–17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.
20. Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfecta.
21. Ureteroscopia della calcolosi ureterale: la nostra esperienza.
22. Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
23. Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
24. Leukoencephalopathy with vanishing white matter:: an adult onset case.
25. Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1.
26. Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.
27. Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1.
28. Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.
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