المؤلفون: Calabria, Andrea, Spinozzi, Giulio, Cesana, Daniela, Buscaroli, Elena, Benedicenti, Fabrizio, Pais, Giulia, Gazzo, Francesco, Scala, Serena, Lidonnici, Maria Rosa, Scaramuzza, Samantha, Albertini, Alessandra, Esposito, Simona, Tucci, Francesca, Canarutto, Daniele, Omrani, Maryam, De Mattia, Fabiola, Dionisio, Francesca, Giannelli, Stefania, Marktel, Sarah, Fumagalli, Francesca, Calbi, Valeria, Cenciarelli, Sabina, Ferrua, Francesca, Gentner, Bernhard, Caravagna, Giulio, Ciceri, Fabio, Naldini, Luigi, Ferrari, Giuliana, Aiuti, Alessandro, Montini, Eugenio

المصدر: Nature ; volume 636, issue 8041, page 162-171 ; ISSN 0028-0836 1476-4687

الاتاحة: https://doi.org/10.1038/s41586-024-08250-x
https://www.nature.com/articles/s41586-024-08250-x.pdf
https://www.nature.com/articles/s41586-024-08250-x

المؤلفون: Fumagalli, Francesca, Calbi, Valeria, De Mattia, Fabiola, Zambon, Alberto, Gallo, Vera, Recupero, Salvatore, Fratini, Elena Sophia, Ippolito, Alessia, Ciotti, Francesca, Fraschini, Maddalena, Sarzana, Marina, Scarparo, Stefano, Montini, Eugenio, Locatelli, Sara, Facchini, Marcella, Clerici, Alessandra, Morena, Francesco, Martino, Sabata, Yarzi, Muska, Moro, Sean, Shenker, Andrew, Brooks, Jean, Richardson, Alan, Meltzer, Leslie, Campbell, Laura, Aiuti, Alessandro

المصدر: Genetics in Medicine Open ; volume 2, page 100882 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.100882
https://api.elsevier.com/content/article/PII:S2949774424000281?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424000281?httpAccept=text/plain

المؤلفون: Fumagalli, Francesca, Calbi, Valeria, Natali Sora, Maria Grazia, Sessa, Maria, Baldoli, Cristina, Rancoita, Paola Maria V, Ciotti, Francesca, Sarzana, Marina, Fraschini, Maddalena, Zambon, Alberto Andrea, Acquati, Serena, Redaelli, Daniela, Attanasio, Vanessa, Miglietta, Simona, De Mattia, Fabiola, Barzaghi, Federica, Ferrua, Francesca, Migliavacca, Maddalena, Tucci, Francesca, Gallo, Vera, Del Carro, Ubaldo, Canale, Sabrina, Spiga, Ivana, Lorioli, Laura, Recupero, Salvatore, Fratini, Elena Sophia, Morena, Francesco, Silvani, Paolo, Calvi, Maria Rosa, Facchini, Marcella, Locatelli, Sara, Corti, Ambra, Zancan, Stefano, Antonioli, Gigliola, Farinelli, Giada, Gabaldo, Michela, Garcia-Segovia, Jesus, Schwab, Laetitia C, Downey, Gerald F, Filippi, Massimo, Cicalese, Maria Pia, Martino, Sabata, Di Serio, Clelia, Ciceri, Fabio, Bernardo, Maria Ester, Naldini, Luigi, Biffi, Alessandra, Aiuti, Alessandro

المساهمون: GlaxoSmithKline Plc, Fondazione Telethon

المصدر: The Lancet ; volume 399, issue 10322, page 372-383 ; ISSN 0140-6736

الاتاحة: http://dx.doi.org/10.1016/s0140-6736(21)02017-1
https://api.elsevier.com/content/article/PII:S0140673621020171?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0140673621020171?httpAccept=text/plain

المؤلفون: Gallo, Vera, Calbi, Valeria, De Mattia, Fabiola, Zambon, Alberto Andrea, Recupero, Salvatore, Fratini, Elena Sophia, Ciotti, Francesca, Fraschini, Maddalena, Sangalli, Mara, Sarzana, Marina, Clerici, Alessandra, Morena, Francesco, Martino, Sabata, Brooks, Jean, Richardson, Alan, Campbell, Laura, Aiuti, Alessandro, Fumagalli, Francesca

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 107835 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.107835
https://api.elsevier.com/content/article/PII:S1096719223004651?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719223004651?httpAccept=text/plain

المؤلفون: Fumagalli, Francesca, Calbi, Valeria, De Mattia, Fabiola, Zambon, Alberto Andrea, Gallo, Vera, Recupero, Salvatore, Fratini, Elena Sophia, Ippolito, Alessia, Ciotti, Francesca, Fraschini, Maddalena, Sarzana, Marina, Scarparo, Stefano, Montini, Eugenio, Locatelli, Sara, Facchini, Marcella, Clerici, Alessandra, Morena, Francesco, Martino, Sabata, Yarzi, Muska, Moro, Sean, Shenker, Andrew, Brooks, Jean, Richardson, Alan, Campbell, Laura, Aiuti, Alessandro

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 107831 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.107831
https://api.elsevier.com/content/article/PII:S1096719223004614?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719223004614?httpAccept=text/plain

المؤلفون: Jofra Hernández, Raisa, Calabria, Andrea, Sanvito, Francesca, De Mattia, Fabiola, Farinelli, Giada, Scala, Serena, Visigalli, Ilaria, Carriglio, Nicola, De Simone, Maura, Vezzoli, Michela, Cecere, Francesca, Migliavacca, Maddalena, Basso-Ricci, Luca, Omrani, Maryam, Benedicenti, Fabrizio, Norata, Rossana, Rancoita, Paola Maria Vittoria, Di Serio, Clelia, Albertini, Paola, Cristofori, Patrizia, Naldini, Luigi, Gentner, Bernhard, Montini, Eugenio, Aiuti, Alessandro, Mortellaro, Alessandra

المساهمون: European Commission, Fondazione Telethon, Italian Ministry of Health

المصدر: Molecular Therapy ; volume 29, issue 1, page 86-102 ; ISSN 1525-0016

الاتاحة: http://dx.doi.org/10.1016/j.ymthe.2020.09.030
https://api.elsevier.com/content/article/PII:S1525001620304871?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1525001620304871?httpAccept=text/plain

المؤلفون: Fumagalli, Francesca, Calbi, Valeria, De Mattia, Fabiola, Zambon, Alberto A., Gallo, Vera, Recupero, Salvatore, Baldoli, Cristina, Fratini, Elena Sophia, Ciotti, Francesca, Fraschini, Maddalena, Sarzana, Marina, Scarparo, Stefano, Calabria, Andrea, Montini, Eugenio, Locatelli, Sara, Facchini, Marcella, Clerici, Alessandra, Morena, Francesco, Martino, Sabata, Claros, Angelica, Kaviya, Arpeat, Moro, Sean, Brooks, Jean, Richardson, Alan, Aiuti, Alessandro

المصدر: Molecular Genetics and Metabolism ; volume 138, issue 2, page 107108 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2022.107108
https://api.elsevier.com/content/article/PII:S1096719222005868?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719222005868?httpAccept=text/plain

المؤلفون: Calbi, Valeria, Fumagalli, Francesca, Fratini, Elena Sophia, Palasciano, Andrea, Recupero, Salvatore, Gallo, Vera, De Mattia, Fabiola, Corti, Ambra, Bona, Maria Della, Malvagia, Sabrina, Forni, Giulia, La Marca, Giancarlo, Aiuti, Alessandro

المصدر: Molecular Genetics and Metabolism ; volume 138, issue 2, page 107043 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2022.107043
https://api.elsevier.com/content/article/PII:S1096719222005212?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719222005212?httpAccept=text/plain

المؤلفون: Calbi, Valeria, Fumagalli, Francesca, Gallo, Vera, Recupero, Salvatore, De Mattia, Fabiola, Fratini, Elena Sophia, Corti, Ambra, Tarantola, Giulia, Sarzana, Marina, Ippolito, Alessia, Scarparo, Stefano, Ciotti, Francesca, Fraschini, Maddalena, Levi, Margherita, Sangalli, Mara, Morena, Francesco, Martino, Sabata, Sevin, Caroline, Narayanan, Vinodh, Adam, Etai, Emrick, Lisa, Giugliani, Roberto, Aiuti, Alessandro

المصدر: Molecular Genetics and Metabolism ; volume 138, issue 2, page 107044 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2022.107044
https://api.elsevier.com/content/article/PII:S1096719222005224?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719222005224?httpAccept=text/plain

المؤلفون: Starc, Nadia, Ingo, Daniela, Conforti, Antonella, Rossella, Valeria, Tomao, Luigi, Pitisci, Angela, De Mattia, Fabiola, Brigida, Immacolata, Algeri, Mattia, Montanari, Mauro, Palumbo, Giuseppe, Merli, Pietro, Rossi, Paolo, Aiuti, Alessandro, Locatelli, Franco, Bernardo, Maria Ester

المصدر: Scientific Reports ; volume 7, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-017-08550-5
https://www.nature.com/articles/s41598-017-08550-5.pdf
https://www.nature.com/articles/s41598-017-08550-5

المؤلفون: Hong, Xinying, Kumar, Arun Babu, Daiker, Jessica, Yi, Fan, Sadilek, Martin, De Mattia, Fabiola, Fumagalli, Francesca, Calbi, Valeria, Damiano, Roberta, Della Bona, Maria, la Marca, Giancarlo, Vanderver, Adeline L, Waldman, Amy T, Adang, Laura, Sherbini, Omar, Woidill, Sarah, Suhr, Teryn, Kurtzberg, Joanne, Beltran-Quintero, Maria L, Escolar, Maria, Aiuti, Alessandro, Finglas, Alan, Olsen, Amber, Gelb, Michael H

مصطلحات موضوعية: Leukocytes, Humans, Leukodystrophy, Metachromatic, Cerebroside-Sulfatase, Sulfoglycosphingolipids, Chromatography, Liquid, Molecular Structure, Tandem Mass Spectrometry, Multiple Sulfatase Deficiency Disease, Dried Blood Spot Testing

وصف الملف: application/pdf

Relation: Analytical chemistry; https://hdl.handle.net/10161/24564

الاتاحة: https://hdl.handle.net/10161/24564

المؤلفون: Essing, Mirko, Zambon, Alberto, Gallo, Vera, Baldoli, Cristina, Cugnata, Federica, Rancoita, Paola M. V., De Mattia, Fabiola, Fratini, Elena, Recupero, Salvatore, Ferrua, Francesca, Barzaghi, Federica, Cicalese, Maria Pia, Migliavacca, Maddalena, Tucci, Francesca, Ciotti, Francesca, Fraschini, Maddalena, Sarzana, Marina, Scarparo, Stefano, Silvani, Paolo, Locatelli, Sara, Clerici, Alessandra, Antonioli, Gigliola, Sangalli, Mara, Zancan, Stefano, Calabria, Andrea, Montini, Eugenio, Farinelli, Giada, Morena, Francesco, Segovia, Jesus, Schwab, Laetitia C., Downey, Gerald, Gabaldo, Michela, Martino, Sabata, Di Serio, Clelia, Ciceri, Fabio, Filippi, Massimo, Sessa, Maria, Natali Sora, Maria Grazia, Bernardo, Maria Ester, Naldini, Luigi, Biffi, Alessandra, Aiuti, Alessandro

المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics ; Neuropediatrics ; ISSN 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0041-1739647
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0041-1739647

المؤلفون: Gallini, Sara, Carminati, Manuel, De Mattia, Fabiola, Pirovano, Laura, Martini, Emanuele, Oldani, Amanda, Asteriti, Italia Anna, Guarguaglini, Giulia, Mapelli, Marina

المصدر: Current Biology ; volume 26, issue 4, page 458-469 ; ISSN 0960-9822

الاتاحة: http://dx.doi.org/10.1016/j.cub.2015.12.051
https://api.elsevier.com/content/article/PII:S0960982215015821?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0960982215015821?httpAccept=text/xml

المؤلفون: Jofra Hernández, Raisa, Calabria, Andrea, Sanvito, Francesca, De Mattia, Fabiola, Farinelli, Giada, Scala, Serena, Visigalli, Ilaria, Carriglio, Nicola, De Simone, Maura, Vezzoli, Michela, Cecere, Francesca, Migliavacca, Maddalena, Basso-Ricci, Luca, Omrani, Maryam, Benedicenti, Fabrizio, Norata, Rossana, Rancoita, Paola Maria Vittoria, Di Serio, Clelia, Albertini, Paola, Cristofori, Paola, Naldini, Luigi, Gentner, Bernhard, Montini, Eugenio, Aiuti, Alessandro, Mortellaro, Alessandra

Relation: https://doi.org/10.5281/zenodo.5882840; https://doi.org/10.5281/zenodo.5882841; oai:zenodo.org:5882841

الاتاحة: https://doi.org/10.5281/zenodo.5882841

المؤلفون: Asteriti, Italia Anna, De Mattia, Fabiola, Guarguaglini, Giulia

المصدر: Frontiers in Oncology ; volume 5 ; ISSN 2234-943X

الاتاحة: http://dx.doi.org/10.3389/fonc.2015.00283

المؤلفون: Hong, Xinying, Kumar, Arun Babu, Daiker, Jessica, Yi, Fan, Sadilek, Martin, De Mattia, Fabiola, Fumagalli, Francesca, Calbi, Valeria, Damiano, Roberta, Bona, Maria Della, la Marca, Giancarlo, Vanderver, Adeline L, Waldman, Amy T, Adang, Laura, Sherbini, Omar, Woidill, Sarah, Suhr, Teryn, Kurtzberg, Joanne, Beltran-Quintero, Maria L, Escolar, Maria, Aiuti, Alessandro, Gelb, Michael H

المساهمون: Hong, Xinying, Kumar, Arun Babu, Daiker, Jessica, Yi, Fan, Sadilek, Martin, De Mattia, Fabiola, Fumagalli, Francesca, Calbi, Valeria, Damiano, Roberta, Bona, Maria Della, la Marca, Giancarlo, Vanderver, Adeline L, Waldman, Amy T, Adang, Laura, Sherbini, Omar, Woidill, Sarah, Suhr, Teryn, Kurtzberg, Joanne, Beltran-Quintero, Maria L, Escolar, Maria, Aiuti, Alessandro, Gelb, Michael H

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000530658600025; journal:ANALYTICAL CHEMISTRY; http://hdl.handle.net/20.500.11768/98439

الاتاحة: https://hdl.handle.net/20.500.11768/98439
https://doi.org/10.1021/acs.analchem.9b05274

المؤلفون: Fumagalli, Francesca, Calbi, Valeria, Sessa, Maria, Zambon, Alberto, Baldoli, Cristina, Rancoita, Paula M. V., Acquati, Serena, de Mattia, Fabiola, Tucci, Francesca, Gallo, Vera, Zancan, Stefano, Montini, Eugenio, Schwab, Laetitia, Downey, Gerald, Sharpe, John, Gabaldo, Michela, Martino, Sabata, De Serio, Clelia, Ciceri, Fabio, Filippi, Massimo, Sora, Maria Grazia Natali, Bernardo, Maria Ester, Naldini, Luigi, Biffi, Alessandra, Aiuti, Alessandro

المساهمون: Fumagalli, Francesca, Calbi, Valeria, Sessa, Maria, Zambon, Alberto, Baldoli, Cristina, Rancoita, Paula M. V., Acquati, Serena, de Mattia, Fabiola, Tucci, Francesca, Gallo, Vera, Zancan, Stefano, Montini, Eugenio, Schwab, Laetitia, Downey, Gerald, Sharpe, John, Gabaldo, Michela, Martino, Sabata, De Serio, Clelia, Ciceri, Fabio, Filippi, Massimo, Sora, Maria Grazia Natali, Bernardo, Maria Ester, Naldini, Luigi, Biffi, Alessandra, Aiuti, Alessandro

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000510805200145; volume:129; issue:2; firstpage:S59; lastpage:S59; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/11391/1461929

الاتاحة: https://hdl.handle.net/11391/1461929
https://doi.org/10.1016/j.ymgme.2019.11.135

المؤلفون: Calbi, Valeria, Fumagalli, Francesca, De Mattia, Fabiola, Fratini, Elena, Ferrua, Francesca, Barzaghi, Federica, Cicalese, Maria Pia, Migliavacca, Maddalena, Tucci, Francesca, Gallo, Vera, Ciotti, Francesca, Fraschini, Maddalena, Sarzana, Marina, Locatelli, Sara, Sangalli, Mara, Morena, Francesco, Segovia, Jesus, Schwab, Laetitia C., Downey, Gerald, Martino, Sabata, Ciceri, Fabio, Bernardo, Maria Ester, Naldini, Luigi, Aiuti, Alessandro

المصدر: Molecular Genetics and Metabolism ; volume 132, issue 2, page S21-S22 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2020.12.031
https://api.elsevier.com/content/article/PII:S1096719220302997?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719220302997?httpAccept=text/plain

المؤلفون: Calabria, Andrea, Spinozzi, Giulio, Cesana, Daniela, Benedicenti, Fabrizio, Pais, Giulia, Scala, Serena, Lidonnici, Maria Rosa, Scaramuzza, Samantha, Albertini, Alessandra, Esposito, Simona, De Mattia, Fabiola, Canarutto, Daniele, Tucci, Francesca, Omrani, Maryam, Dionisio, Francesca, Giannelli, Stefania, Marktel, Sarah, Calbi, Valeria, Ferrua, Francesca, Gentner, Bernhard, Ciceri, Fabio, Naldini, Luigi, Ferrari, Giuliana, Aiuti, Alessandro, Montini, Eugenio

المصدر: Blood; November 2022, Vol. 140 Issue: Supplement 1 p1904-1905, 2p

المؤلفون: Maria L. Beltran-Quintero, Xinying Hong, Alan Finglas, Michael H. Gelb, Omar Sherbini, Giancarlo la Marca, Joanne Kurtzberg, Fabiola De Mattia, Maria L. Escolar, Arun Kumar, Francesca Fumagalli, Roberta Damiano, Adeline Vanderver, Martin Sadilek, Alessandro Aiuti, Maria Luisa Della Bona, Teryn R. Suhr, Jessica Daiker, Amy Waldman, Valeria Calbi, Sarah Woidill, Amber Olsen, Laura Adang, Fan Yi

المساهمون: Hong, Xinying, Kumar, Arun Babu, Daiker, Jessica, Yi, Fan, Sadilek, Martin, De Mattia, Fabiola, Fumagalli, Francesca, Calbi, Valeria, Damiano, Roberta, Bona, Maria Della, la Marca, Giancarlo, Vanderver, Adeline L, Waldman, Amy T, Adang, Laura, Sherbini, Omar, Woidill, Sarah, Suhr, Teryn, Kurtzberg, Joanne, Beltran-Quintero, Maria L, Escolar, Maria, Aiuti, Alessandro, Gelb, Michael H

المصدر: Anal Chem

مصطلحات موضوعية: Arylsulfatase A, Multiple Sulfatase Deficiency Disease, 010402 general chemistry, Tandem mass spectrometry, 01 natural sciences, Article, Analytical Chemistry, Multiple sulfatase deficiency, Tandem Mass Spectrometry, medicine, Leukocytes, Humans, Cerebroside-Sulfatase, chemistry.chemical_classification, Newborn screening, Sulfoglycosphingolipids, biology, Molecular Structure, 010401 analytical chemistry, Leukodystrophy, Metachromatic, medicine.disease, Molecular biology, 0104 chemical sciences, Dried blood spot, Metachromatic leukodystrophy, Enzyme, chemistry, biology.protein, Dried Blood Spot Testing, Antibody, Chromatography, Liquid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71f19bd69462c70a8a3b19c8909f9aaf
https://europepmc.org/articles/PMC7203001/