المؤلفون: Jones, SA, Parini, R, Harmatz, P, Giugliani, R, Fang, JZ, Mendelsohn, NJ

المصدر: Molecular genetics and metabolism. 109(1):41-48

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:126659114Test

المؤلفون: Corrigan, E, Parini, R

مصطلحات موضوعية: High Energy Physics - Theory, Mathematical Physics

الوصول الحر: http://arxiv.org/abs/1612.06904Test

المؤلفون: Consiglieri G., Tucci F., De Pellegrin M., Guerrini B., Cattoni A., Risca G., Scarparo S., Sarzana M., Pontesilli S., Mellone R., Gasperini S., Galimberti S., Silvani P., Filisetti C., Darin S., Forni G., Miglietta S., Santi L., Facchini M., Corti A., Fumagalli F., Cicalese M. P., Calbi V., Migliavacca M., Barzaghi F., Ferrua F., Gallo V., Recupero S., Canarutto D., Doglio M., Tedesco L., Volpi N., Rovelli A., la Marca G., Valsecchi M. G., Zancan S., Ciceri F., Naldini L., Baldoli C., Parini R., Gentner B., Aiuti A., Bernardo M. E.

المساهمون: Consiglieri, G., Tucci, F., De Pellegrin, M., Guerrini, B., Cattoni, A., Risca, G., Scarparo, S., Sarzana, M., Pontesilli, S., Mellone, R., Gasperini, S., Galimberti, S., Silvani, P., Filisetti, C., Darin, S., Forni, G., Miglietta, S., Santi, L., Facchini, M., Corti, A., Fumagalli, F., Cicalese, M. P., Calbi, V., Migliavacca, M., Barzaghi, F., Ferrua, F., Gallo, V., Recupero, S., Canarutto, D., Doglio, M., Tedesco, L., Volpi, N., Rovelli, A., la Marca, G., Valsecchi, M. G., Zancan, S., Ciceri, F., Naldini, L., Baldoli, C., Parini, R., Gentner, B., Aiuti, A., Bernardo, M. E.

العلاقة: volume:16; issue:745; journal:SCIENCE TRANSLATIONAL MEDICINE; https://hdl.handle.net/20.500.11768/164918Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85192036476

الإتاحة: https://doi.org/20.500.11768/16491810.1126/scitranslmed.adi8214Test
https://hdl.handle.net/20.500.11768/164918Test

المؤلفون: Parini R, Pintos-Morell G, Hennermann JB, Hsu TR, Karabul N, Kalampoki V, Gurevich A, Ramaswami U

المصدر: Drug Design, Development and Therapy, Vol Volume 14, Pp 2149-2158 (2020)

مصطلحات موضوعية: agalsidase alfa, fabry disease, enzyme replacement therapy, fabry outcome survey, estimated glomerular filtration rate, left ventricular hypertrophy, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/analysis-of-renal-and-cardiac-outcomes-in-male-participants-in-the-fab-peer-reviewed-article-DDDTTest; https://doaj.org/toc/1177-8881Test

الوصول الحر: https://doaj.org/article/cc0f70b93cb8481287ff5bb3b648a849Test

المؤلفون: Pettinato F., Mostile G., Battini R., Martinelli D., Madeo A., Biamino E., Frattini D., Garozzo D., Gasperini S., Parini R., Sirchia F., Sortino G., Sturiale L., Matthijs G., Morrone A., Di Rocco M., Rizzo R., Jaeken J., Fiumara A., Barone R.

المساهمون: Pettinato, F., Mostile, G., Battini, R., Martinelli, D., Madeo, A., Biamino, E., Frattini, D., Garozzo, D., Gasperini, S., Parini, R., Sirchia, F., Sortino, G., Sturiale, L., Matthijs, G., Morrone, A., Di Rocco, M., Rizzo, R., Jaeken, J., Fiumara, A., Barone, R.

مصطلحات موضوعية: Activities of daily living, Ataxia, Cerebellar atrophy, Congenital disorder(s) of glycosylation, PMM2 variant, Pons atrophy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33619652; info:eu-repo/semantics/altIdentifier/wos/WOS:000620401900001; volume:20; issue:4; firstpage:596; lastpage:605; numberofpages:10; journal:CEREBELLUM; https://hdl.handle.net/11568/1116716Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101683015; https://link.springer.com/article/10.1007/s12311-021-01242-xTest

الإتاحة: https://doi.org/10.1007/s12311-021-01242-xTest
https://hdl.handle.net/11568/1116716Test

المؤلفون: Cattoni A., Chiaraluce S., Gasperini S., Molinari S., Biondi A., Rovelli A., Parini R.

المساهمون: Cattoni, A, Chiaraluce, S, Gasperini, S, Molinari, S, Biondi, A, Rovelli, A, Parini, R

مصطلحات موضوعية: Growth, Hematopoietic stem cell transplantation, Hurler disease, Mucopolysaccharidosis I

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34408967; info:eu-repo/semantics/altIdentifier/wos/WOS:000687300900013; volume:28; issue:September 2021; journal:MOLECULAR GENETICS AND METABOLISM REPORTS; http://hdl.handle.net/10281/324673Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85112591791

الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100787Test
http://hdl.handle.net/10281/324673Test

المؤلفون: Karnam, M., Parini, R., Eugster, M., Cattin, P., Rauter, G., Gerig, N.

المصدر: Karnam, M.; Parini, R.; Eugster, M.; Cattin, P.; Rauter, G.; Gerig, N. (2020). An intuitive interface for null space visualization and control of redundant surgical robots. In: Proceedings on Automation in Medical Engineering. Infinite Science Publishing 10.18416/automed.2020

مصطلحات موضوعية: 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/192164Test/

الإتاحة: https://doi.org/10.18416/automed.2020Test
https://boris.unibe.ch/192164/1/frichter__450-M_Karnam.pdfTest
https://boris.unibe.ch/192164Test/

المؤلفون: Rossi, A, Hoogeveen, IJ, Lubout, CMA, de Boer, F, Fokkert-Wilts, MJ, Rodenburg, IL, van Dam, E, Grünert, SC, Martinelli, D, Scarpa, M, Dekker, H, te Boekhorst, ST, van Spronsen, FJ, Derks, TGJ, de Baere, L, Bellettato, C, Bosch, AM, Sallago, JB, Botto, LD, Brunner-Krainz, M, Carøe, C, Casswall, T, Contreras Pulido, EL, Couce, ML, Dessein, AF, Donati, MA, Eyskens, F, Moura De Souza, CF, Fraile, PQ, Fuchs, SA, Gasperini, S, Haas, D, Hernández, EM, Hochuli, M, Hugon, A, Karall, D, Koeberl, D, Labrune, P, Lajic, S, van Lingen, C, Maiorana, A, Mention, K, Moenig, I, Mohnike, K, Montanari, C, Nassogne, MC, Parini, R, Rahman, S, Reyes, M, Schwantje, M, Skouma, A, Strisciuglio, P, Thiel, M, Weinstein, D, Ziagaki, A

المصدر: Journal of Inherited Metabolic Disease , 44 (5) pp. 1124-1135. (2021)

مصطلحات موضوعية: eHealth, emergency treatment, fatty acid oxidation disorders, glycogen storage diseases, hypoglycemia, telemedicine

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10149887/1/J%20of%20Inher%20Metab%20Disea%20-%202021%20-%20Rossi%20-%20A%20generic%20emergency%20protocol%20for%20patients%20with%20inborn%20errors%20of%20metabolism%20causing.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10149887Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10149887/1/J%20of%20Inher%20Metab%20Disea%20-%202021%20-%20Rossi%20-%20A%20generic%20emergency%20protocol%20for%20patients%20with%20inborn%20errors%20of%20metabolism%20causing.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10149887Test/

المؤلفون: Toscano A., Musumeci O., Sacchini M., Ravaglia S., Siciliano G., Fiumara A., Verrecchia E., Maione M., Gentile J., Fischetto R., Crescimanno G., Taurisano R., Sechi A., Gasperini S., Cianci V., Maggi L., Parini R., Lupica A., Scarpa M.

المساهمون: Toscano, A., Musumeci, O., Sacchini, M., Ravaglia, S., Siciliano, G., Fiumara, A., Verrecchia, E., Maione, M., Gentile, J., Fischetto, R., Crescimanno, G., Taurisano, R., Sechi, A., Gasperini, S., Cianci, V., Maggi, L., Parini, R., Lupica, A., Scarpa, M.

مصطلحات موضوعية: Enzyme replacement therapy, Pompe disease, Home therapy, Mucopolysaccharidosi, Treatment adherence, Safety

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:001096899500001; volume:18; issue:1; firstpage:1; lastpage:17; numberofpages:17; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11570/3295108Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85175049979

الإتاحة: https://doi.org/10.1186/s13023-023-02919-8Test
https://hdl.handle.net/11570/3295108Test

المؤلفون: Cattoni A., Motta S., Masera N., Gasperini S., Rovelli A., Parini R.

المساهمون: Cattoni, A, Motta, S, Masera, N, Gasperini, S, Rovelli, A, Parini, R

مصطلحات موضوعية: Failure to thrive, Human growth hormone, Mucopolysaccharidose, Pituitary dwarfism, Adolescent, Bone Density, Child, Enzyme Replacement Therapy, Female, Hematopoietic Stem Cell Transplantation, Human, Retrospective Studies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31370860; info:eu-repo/semantics/altIdentifier/wos/WOS:000482629000001; volume:45; issue:1; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/10281/295125Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070957662

الإتاحة: https://doi.org/10.1186/s13052-019-0691-1Test
http://hdl.handle.net/10281/295125Test