20072019

Research output per year

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Fingerprint Dive into the research topics where Barbara Anna Tappino is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

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

    Concentration-dependent metabolic effects of metformin in healthy and Fanconi anemia lymphoblast cells

    Ravera, S., Cossu, V., Tappino, B., Nicchia, E., Dufour, C., Cavani, S., Sciutto, A., Bolognesi, C., Columbaro, M., Degan, P. & Cappelli, E., 2018, In : Journal of Cellular Physiology. 233, 2, p. 1736-1751 16 p.

    Research output: Contribution to journalArticle

    Concentration-Dependent Metabolic Effects of Metformin in Healthy and Fanconi Anemia Lymphoblast Cells

    Ravera, S., Cossu, V., Tappino, B., Nicchia, E., Dufour, C., Cavani, S., Sciutto, A., Bolognesi, C., Columbaro, M., Degan, P. & Cappelli, E., Jul 6 2017, In : Journal of Cellular Physiology.

    Research output: Contribution to journalArticle