• 3367 Citations
  • 28 h-Index
1979 …2018
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Fingerprint Dive into the research topics where Mirella Filocamo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 7 Similar Profiles
Mutation Medicine & Life Sciences
Gaucher Disease Medicine & Life Sciences
Genes Medicine & Life Sciences
Metachromatic Leukodystrophy Medicine & Life Sciences
Alleles Medicine & Life Sciences
Mucopolysaccharidosis II Medicine & Life Sciences
Iduronate Sulfatase Medicine & Life Sciences
Glucosylceramidase Medicine & Life Sciences

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Research Output 1979 2018

  • 3367 Citations
  • 28 h-Index
  • 176 Article
  • 2 Review article

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

Furlan, F., Rovelli, A., Rigoldi, M., Filocamo, M., Tappino, B., Friday, D., Gasperini, S., Mariani, S., Izzi, C., Bondioni, M. P., Gellera, C., Venerando, A., Villa, N., Del Carmen Rodriguez Perez, M., Pavan, F., Biondi, A. & Parini, R., Nov 16 2018, In : Italian Journal of Pediatrics. 44, 1 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis VII
Cell Transplantation
Prenatal Diagnosis
Hydrops Fetalis
Pregnancy

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

Furlan, F., Rovelli, A., Rigoldi, M., Filocamo, M., Tappino, B., Friday, D., Gasperini, S., Mariani, S., Izzi, C., Bondioni, M. P., Gellera, C., Venerando, A., Villa, N., Del Carmen Rodriguez Perez, M., Pavan, F., Biondi, A. & Parini, R., 2018, In : Italian Journal of Pediatrics. 44

Research output: Contribution to journalArticle

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know

Filocamo, M., Tomanin, R., Bertola, F. & Morrone, A., Nov 16 2018, In : Italian Journal of Pediatrics. 44, Suppl 2, p. 129

Research output: Contribution to journalReview article

Mucopolysaccharidoses
Glycosaminoglycans
Signs and Symptoms
Mucopolysaccharidosis II
Laboratory Personnel

FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)

Bellesso, S., Salvalaio, M., Lualdi, S., Tognon, E., Costa, R., Braghetta, P., Giraudo, C., Stramare, R., Rigon, L., Filocamo, M., Tomanin, R. & Moro, E., Jul 1 2018, In : Human Molecular Genetics. 27, 13, p. 2262-2275 14 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis II
Animal Models
Bone Development
Glycosaminoglycans
Iduronate Sulfatase
3 Citations (Scopus)

Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy

Frati, G., Luciani, M., Meneghini, V., De Cicco, S., Ståhlman, M., Blomqvist, M., Grossi, S., Filocamo, M., Morena, F., Menegon, A., Martino, S. & Gritti, A., Jun 1 2018, In : Cell Death and Disease. 9, 6, 698.

Research output: Contribution to journalArticle

Metachromatic Leukodystrophy
Neuroglia
Sulfoglycosphingolipids
Stem Cells
Neuroepithelial Cells