1979 …2019

Research output per year

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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.

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Research Output

Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes

Ługowska, A., Hetmańczyk-Sawicka, K., Iwanicka-Nowicka, R., Fogtman, A., Cieśla, J., Purzycka-Olewiecka, J. K., Sitarska, D., Płoski, R., Filocamo, M., Lualdi, S., Bednarska-Makaruk, M. & Koblowska, M., Apr 15 2019, In : Scientific Reports. 9, 1, p. 6060

Research output: Contribution to journalArticle

  • The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

    Velho, R. V., Harms, F. L., Danyukova, T., Ludwig, N. F., Friez, M. J., Cathey, S. S., Filocamo, M., Tappino, B., Güneş, N., Tüysüz, B., Tylee, K. L., Brammeier, K. L., Heptinstall, L., Oussoren, E., van der Ploeg, A. T., Petersen, C., Alves, S., Saavedra, G. D., Schwartz, I. V., Muschol, N. & 2 others, Kutsche, K. & Pohl, S., Jul 2019, In : Human Mutation. 40, 7, p. 842-864 23 p.

    Research output: Contribution to journalArticle

  • 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

  • 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