المؤلفون: D'Avanzo, F, Zanetti, A, Dardis, A, Scarpa, M, Volpi, N, Gatto, F, Tomanin, R

المصدر: Biomolecules. 13(3)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:152232614

المؤلفون: Badenetti L., Manzoli R., Trevisan M., D’Avanzo F., Tomanin R., Moro E.

المساهمون: Badenetti, L., Manzoli, R., Trevisan, M., D’Avanzo, F., Tomanin, R., Moro, E.

Relation: info:eu-repo/semantics/altIdentifier/pmid/37357221; info:eu-repo/semantics/altIdentifier/wos/WOS:001016036300004; volume:13; issue:1; firstpage:10289; journal:SCIENTIFIC REPORTS; https://hdl.handle.net/11577/3491577; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85162765804

الاتاحة: https://hdl.handle.net/11577/3491577
https://doi.org/10.1038/s41598-023-37138-5

المؤلفون: De Filippis C., Napoli B., Rigon L., Guarato G., Bauer R., Tomanin R., Orso G.

المساهمون: De Filippis, C., Napoli, B., Rigon, L., Guarato, G., Bauer, R., Tomanin, R., Orso, G.

مصطلحات موضوعية: D-idua, Drosophila melanogaster, Fly model, Hurler syndrome, IDUA, Lysosomal storage disorder, MPS I, Mucopolysaccharidosis type I, RNAi

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35011691; info:eu-repo/semantics/altIdentifier/wos/WOS:000759155900001; volume:11; issue:1; firstpage:129; journal:CELLS; http://hdl.handle.net/11577/3411739; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122041544

الاتاحة: http://hdl.handle.net/11577/3411739
https://doi.org/10.3390/cells11010129

المؤلفون: Maccari F., Rigon L., Mantovani V., Galeotti F., Salvalaio M., D'Avanzo F., Zanetti A., Capitani F., Gabrielli O., Tomanin R., Volpi N.

المساهمون: Maccari, F., Rigon, L., Mantovani, V., Galeotti, F., Salvalaio, M., D'Avanzo, F., Zanetti, A., Capitani, F., Gabrielli, O., Tomanin, R., Volpi, N.

مصطلحات موضوعية: Dermatan-sulfate, Enzyme replacement therapy, Glycosaminoglycan, Heparan-sulfate, Iduronate 2-sulfatase, Mucopolysaccharidosis type II, Animal, Biomarker, Dermatan Sulfate, Disaccharide, Disease Models, Heparitin Sulfate, Mice, Knockout, Body Fluid, Mucopolysaccharidosis II

Relation: info:eu-repo/semantics/altIdentifier/pmid/35816218; info:eu-repo/semantics/altIdentifier/wos/WOS:000825080400001; volume:100; issue:8; firstpage:1169; lastpage:1179; journal:JOURNAL OF MOLECULAR MEDICINE; http://hdl.handle.net/11380/1287532; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133862006

الاتاحة: http://hdl.handle.net/11380/1287532
https://doi.org/10.1007/s00109-022-02221-3

المؤلفون: Sestito S., Rinninella G., Rampazzo A., D'Avanzo F., Zampini L., Santoro L., Gabrielli O., Fiumara A., Barone R., Volpi N., Scarpa M., Tomanin R., Concolino D.

المساهمون: Sestito, S., Rinninella, G., Rampazzo, A., D'Avanzo, F., Zampini, L., Santoro, L., Gabrielli, O., Fiumara, A., Barone, R., Volpi, N., Scarpa, M., Tomanin, R., Concolino, D.

مصطلحات موضوعية: Enzyme replacement therapy (ERT), Glycosaminoglycans (GAGs), Heart involvement, Mucopolysaccharidoses (MPS), Valvulopathie, Enzyme Replacement Therapy, Human, Incidence, Heart Injurie, Mitral Valve Insufficiency, Mucopolysaccharidose, Mucopolysaccharidosis II, Mucopolysaccharidosis VI

Relation: info:eu-repo/semantics/altIdentifier/pmid/35768874; info:eu-repo/semantics/altIdentifier/wos/WOS:000818754700001; volume:17; issue:1; firstpage:N/A; lastpage:N/A; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11380/1287607; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133128843

الاتاحة: http://hdl.handle.net/11380/1287607
https://doi.org/10.1186/s13023-022-02396-5

المؤلفون: Begley D., Gabathuler R., Pastores G., Garcia-Cazorla A., Ardigò D., Scarpa M., Tomanin R., Tosi G.

المساهمون: Begley, D., Gabathuler, R., Pastores, G., Garcia-Cazorla, A., Ardigò, D., Scarpa, M., Tomanin, R., Tosi, G.

مصطلحات موضوعية: Blood–brain barrier, inborn errors of metabolism, neurodegeneration, neurometabolic disorder, physiological and synthetic delivery systems

Relation: info:eu-repo/semantics/altIdentifier/pmid/38963225; info:eu-repo/semantics/altIdentifier/wos/WOS:001262188900001; volume:21; issue:6; firstpage:817; lastpage:828; journal:EXPERT OPINION ON DRUG DELIVERY; https://hdl.handle.net/11380/1367210

الاتاحة: https://hdl.handle.net/11380/1367210
https://doi.org/10.1080/17425247.2024.2375388

المؤلفون: Rigon L., De Filippis C., Napoli B., Tomanin R., Orso G.

المساهمون: Rigon, L., De Filippis, C., Napoli, B., Tomanin, R., Orso, G.

مصطلحات موضوعية: Animal model, Autophagy, Drosophila melanogaster, Lysosomal storage disorder, Lysosome, Mucolipidosi, Mucopolysaccharidosi, Neuronal ceroid lipofuscinosi, Sphingolipidosis

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000633435900001; volume:9; issue:3; firstpage:268; journal:BIOMEDICINES; http://hdl.handle.net/11577/3387235; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103033080; https://www.mdpi.com/2227-9059/9/3/268

الاتاحة: http://hdl.handle.net/11577/3387235
https://doi.org/10.3390/biomedicines9030268
https://www.mdpi.com/2227-9059/9/3/268

المؤلفون: Dʹavanzo F., Rigon L., Zanetti A., Tomanin R.

المساهمون: Dʹavanzo, F., Rigon, L., Zanetti, A., Tomanin, R.

مصطلحات موضوعية: Animal model, Diagnosi, Glycosaminoglycan, Hunter syndrome, Lysosomal storage disorder, Mucopolysaccharidosis type II, Pathogenesi, Therapy, X‐ linked trait, Brain, Genes, X-Linked, Human, Iduronate Sulfatase, Male, Mucopolysaccharidosis II, Phenotype

Relation: info:eu-repo/semantics/altIdentifier/pmid/32070051; info:eu-repo/semantics/altIdentifier/wos/WOS:000522524400085; volume:21; issue:4; firstpage:1258; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11577/3387672

الاتاحة: http://hdl.handle.net/11577/3387672
https://doi.org/10.3390/ijms21041258

المؤلفون: Zanetti A, D'Avanzo F, Rigon L, Rampazzo A, Concolino D, Barone R, Volpi N, Santoro L, Lualdi S, Bertola F, Scarpa M, Tomanin R.

المساهمون: Zanetti, A, D'Avanzo, F, Rigon, L, Rampazzo, A, Concolino, D, Barone, R, Volpi, N, Santoro, L, Lualdi, S, Bertola, F, Scarpa, M, Tomanin, R.

مصطلحات موضوعية: ACMG classification, Genetics analyse, Genotype-phenotype correlation, Lysosomal storage disorder, Mucopolysaccharidose

Relation: info:eu-repo/semantics/altIdentifier/pmid/30809705; info:eu-repo/semantics/altIdentifier/wos/WOS:000464872900013; volume:178; issue:5; firstpage:739; lastpage:753; journal:EUROPEAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11380/1175858; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062642745

الاتاحة: http://hdl.handle.net/11380/1175858
https://doi.org/10.1007/s00431-019-03341-8

المؤلفون: Rigon L, Maccari F, Salvalaio M, Legnini E, D’Avanzo F, Galeotti F, Mantovani V, Gabrielli O, Marin O, Scarpa M, Volpi N, Tomanin R.

المساهمون: Rigon, L, Maccari, F, Salvalaio, M, Legnini, E, D’Avanzo, F, Galeotti, F, Mantovani, V, Gabrielli, O, Marin, O, Scarpa, M, Volpi, N, Tomanin, R.

Relation: ispartofbook:Atti del Convegno; 21st ESGLD WORKSHOP; http://hdl.handle.net/11380/1175842

الاتاحة: http://hdl.handle.net/11380/1175842

المؤلفون: Volpi N., Maccari F., Galeotti F., Tomanin R., Monachesi C., Galeazzi T., Catassi C.

المساهمون: Volpi, N., Maccari, F., Galeotti, F., Tomanin, R., Monachesi, C., Galeazzi, T., Catassi, C.

Relation: ispartofbook:Atti del Convegno; SSIEM 2016, Società Italiana Per lo Studio delle Malattie Metaboliche; http://hdl.handle.net/11380/1175831

الاتاحة: http://hdl.handle.net/11380/1175831

المؤلفون: Rigon L, Salvalaio M, Maccari M, Galeotti F, Mantovani V, Gabrielli O, Scarpa M, Volpi N, Tomanin R.

المساهمون: Rigon, L, Salvalaio, M, Maccari, M, Galeotti, F, Mantovani, V, Gabrielli, O, Scarpa, M, Volpi, N, Tomanin, R.

Relation: ispartofbook:Atti del Convegno; XIX Congresso Nazionale SIGU; http://hdl.handle.net/11380/1175840

الاتاحة: http://hdl.handle.net/11380/1175840

المؤلفون: Bertoldi L., Forcato C., Vitulo N., Birolo G., De Pascale F., Feltrin E., Schiavon R., Anglani F., Negrisolo S., Zanetti A., D'Avanzo F., Tomanin R., Faulkner G., Vezzi A., Valle G.

المساهمون: Bertoldi L., Forcato C., Vitulo N., Birolo G., De Pascale F., Feltrin E., Schiavon R., Anglani F., Negrisolo S., Zanetti A., D'Avanzo F., Tomanin R., Faulkner G., Vezzi A., Valle G.

مصطلحات موضوعية: Data integration, Exome sequencing, Variant annotation, Variant prioritization, Disease, Exome, Genome, Human, Internet, Databases, Genetic, Genetic Variation, Software

Relation: info:eu-repo/semantics/altIdentifier/pmid/28454514; info:eu-repo/semantics/altIdentifier/wos/WOS:000400615300002; volume:18; issue:1; firstpage:1; lastpage:11; numberofpages:11; journal:BMC BIOINFORMATICS; http://hdl.handle.net/2318/1723006; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018373978; http://www.biomedcentral.com/bmcbioinformatics/

الاتاحة: http://hdl.handle.net/2318/1723006
https://doi.org/10.1186/s12859-017-1654-4
http://www.biomedcentral.com/bmcbioinformatics/

المؤلفون: Monachesi C., Marchesiello R. L., Galeazzi T., Legnini E., Tomanin R., Volpi N., Maccari F., Concolino D., Pascale E., Fiumara A., Meli C., Gabrielli O.

المساهمون: Monachesi, C., Marchesiello, R. L., Galeazzi, T., Legnini, E., Tomanin, R., Volpi, N., Maccari, F., Concolino, D., Pascale, E., Fiumara, A., Meli, C., Gabrielli, O.

Relation: ispartofbook:La complessità delle Malattie Metaboliche Ereditarie: dallo screening neonatale all’età adulta; VII Congresso Nazionale SIMMESN; http://hdl.handle.net/11380/1175372

الاتاحة: http://hdl.handle.net/11380/1175372

المؤلفون: Casamassa, A, Zanetti, A, Ferrari, D, Lombardi, I, Galluzzi, G, D'Avanzo, F, Cipressa, G, Bertozzi, A, Torrente, I, Vescovi, A, Tomanin, R, Rosati, J, Casamassa, Alessia, Zanetti, Alessandra, Ferrari, Daniela, Lombardi, Ivan, Galluzzi, Gaia, D'Avanzo, Francesca, Cipressa, Gabriella, Bertozzi, Alessia, Torrente, Isabella, Vescovi, Angelo Luigi, Tomanin, Rosella, Rosati, Jessica

مصطلحات الفهرس: Glycosaminoglycan, Human, Iduronic Acid, Phenotype, Iduronate Sulfatase, Induced Pluripotent Stem Cell, Mucopolysaccharidosis II, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/391463
info:eu-repo/semantics/altIdentifier/pmid/35759972
info:eu-repo/semantics/altIdentifier/wos/WOS:000827285400001
volume:63
issue:August 2022
numberofpages:5
journal:STEM CELL RESEARCH

المؤلفون: Zanetti A., D'Avanzo F., Bertoldi L., Zampieri G., Feltrin E., De Pascale F., Rampazzo A., Forzan M., Valle G., Tomanin R.

المساهمون: Zanetti, A., D'Avanzo, F., Bertoldi, L., Zampieri, G., Feltrin, E., De Pascale, F., Rampazzo, A., Forzan, M., Valle, G., Tomanin, R.

Relation: info:eu-repo/semantics/altIdentifier/pmid/32036093; info:eu-repo/semantics/altIdentifier/wos/WOS:000526999600006; volume:22; issue:4; firstpage:488; lastpage:502; numberofpages:15; journal:THE JOURNAL OF MOLECULAR DIAGNOSTICS; http://hdl.handle.net/11577/3387671; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85081087887

الاتاحة: http://hdl.handle.net/11577/3387671
https://doi.org/10.1016/j.jmoldx.2020.01.010

المؤلفون: Mazzoccoli, G, Tomanin, R, Mazza, T, D'Avanzo, F, Salvalaio, M, Rigon, L, Zanetti, A, Pazienza, V, Francavilla, M, Giuliani, F, Vinciguerra, M, Scarpa, M

المصدر: BMC Medical Genomics , 6 , Article 37. (2013)

وصف الملف: application/pdf; application/msword

Relation: https://discovery.ucl.ac.uk/id/eprint/1409023/1/1755-8794-6-37.pdf; https://discovery.ucl.ac.uk/id/eprint/1409023/2/1755-8794-6-37-s1.doc; https://discovery.ucl.ac.uk/id/eprint/1409023/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1409023/1/1755-8794-6-37.pdf
https://discovery.ucl.ac.uk/id/eprint/1409023/2/1755-8794-6-37-s1.doc
https://discovery.ucl.ac.uk/id/eprint/1409023/

المؤلفون: Fusar Poli, E, Zalfa, C, D’Avanzo, F, Tomanin, R, Carlessi, L, Bossi, M, Rota Nodari, L, Binda, E, Marmiroli, P, Scarpa, M, Delia, D, Vescovi, A L, De Filippis, L

المصدر: Cell Death & Disease ; volume 4, issue 11, page e906-e906 ; ISSN 2041-4889

الاتاحة: http://dx.doi.org/10.1038/cddis.2013.430
http://www.nature.com/articles/cddis2013430.pdf
http://www.nature.com/articles/cddis2013430
https://www.nature.com/articles/cddis2013430.pdf

المؤلفون: Piller Puicher, E, Tomanin, R, Salvalaio, M, Friso, A, Hortelano, G, Marin, O, Scarpa, M

المصدر: Gene Therapy ; volume 19, issue 4, page 355-364 ; ISSN 0969-7128 1476-5462

الاتاحة: http://dx.doi.org/10.1038/gt.2011.94
https://www.nature.com/articles/gt201194.pdf
https://www.nature.com/articles/gt201194

المؤلفون: Grisafi, D, Dedja, A, Salmaso, R, Piccoli, M, Vanzo, V, Milan, A, Tomanin, R, Fassina, A, Scarpa, M, Chindetti, L, Pozzobon, M, De Coppi, P, Cozzi, E, De Caro, R, Porzionato, A, Macchi, V, Zaramella, P

مصطلحات موضوعية: Paediatric pulmonology, organised in collaboraton with ERS

وصف الملف: text/html

Relation: http://adc.bmj.com/cgi/content/short/93/2_MeetingAbstracts/espr10

الاتاحة: http://adc.bmj.com/cgi/content/short/93/2_MeetingAbstracts/espr10