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1دورية أكاديمية
المؤلفون: Concolino D, Degennaro E, Parini R, Antuzzi, D, Bembi, B, Benso, A, Carraro, G, Chimenti, C, Colla, L, Cuonzo, MT, Del Rosso, G, Feliciani, C, Feriozzi, S, Ficcadenti, A, Frustaci, A, Gnarra, M, Maccarone, M, Mancuso, M, Matucci, A, Mignani, R, Musumeci, B, Nencini, P, Piga, S, Pisani, A, Re, F, Salviati, A, Spada, M, Vultaggio, A, Zachara, E. Zedde, ML, Zoli, PG, DIOMEDI, MARINA
المساهمون: Concolino, D, Degennaro, E, Parini, R, Antuzzi, D, Bembi, B, Benso, A, Carraro, G, Chimenti, C, Colla, L, Cuonzo, M, Del Rosso, G, Diomedi, M, Feliciani, C, Feriozzi, S, Ficcadenti, A, Frustaci, A, Gnarra, M, Maccarone, M, Mancuso, M, Matucci, A, Mignani, R, Musumeci, B, Nencini, P, Piga, S, Pisani, A, Re, F, Salviati, A, Spada, M, Vultaggio, A, Zachara, E., Z, Ml, Zoli, P
مصطلحات موضوعية: Management, Diagnosi, Fabry disease, Treatment, Settore MED/03 - GENETICA MEDICA, Settore MED/14 - NEFROLOGIA, Settore MED/26 - NEUROLOGIA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25123424; info:eu-repo/semantics/altIdentifier/wos/WOS:000343807000018; volume:25; issue:8; firstpage:751; lastpage:756; numberofpages:6; journal:EUROPEAN JOURNAL OF INTERNAL MEDICINE; http://hdl.handle.net/2108/99672Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908209301
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2دورية أكاديمية
المؤلفون: Scarpa, M., Tuysuz, B., Parenti, G., Uziel, G., Biondi, A., Bertola, F., Parini, R., Casati, G., Tylki-Szymanska, A., Okur, I, Dalmau, J., Gonzales, Meneses A., Antuzzi, D., Barone, R., Dionisi, Vici C., Donati, A., Filocamo, M., Gabrielli, O.
المساهمون: University of Milano-Bicocca ,
مصطلحات موضوعية: ENDOKRİNOLOJİ VE METABOLİZMA, TIP, ARAŞTIRMA VE DENEYSEL, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Tıbbi Genetik, Tıbbi Ekoloji ve Hidroklimatoloji, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, GENETİK VE HAYAT, Klinik Tıp (MED), Klinik Tıp, Yaşam Bilimleri (LIFE)
العلاقة: JOURNAL OF INHERITED METABOLIC DISEASE; Bertola F., Parini R., Casati G., Tylki-Szymanska A., Okur I., Tuysuz B., Dalmau J., Gonzales M. A. , Antuzzi D., Barone R., et al., "Molecular analysis of 82 mucopolysaccharidosis type I patients: Mutational spectrum in the European population and identification of 28 novel mutations", JOURNAL OF INHERITED METABOLIC DISEASE, cilt.31, ss.108, 2008; vv_1032021; av_e3897ca6-6e9e-4dae-86e4-c3c1548df017; http://hdl.handle.net/20.500.12627/149728Test; 31; 108
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3دورية أكاديمية
المؤلفون: Filoni, C., Caciotti, A., Carraresi, L., Cavicchi, C., Parini, R., Antuzzi, D., Zampetti, A., Feriozzi, S., Poisetti, P., Garman, S.C., Guerrini, R., Zammarchi, E., Donati, M.A., Morrone, A.
المساهمون: Clinic of Pediatric Neurology, San Gerardo Hospital, Catholic University Hospital “A. Gemelli”, Belcolle Hospital, Piacenza Hospital
المصدر: ISSN: 0925-4439 ; Biochimica et Biophysica Acta - Molecular Basis of Disease ; https://hal.archives-ouvertes.fr/hal-00556270Test ; Biochimica et Biophysica Acta - Molecular Basis of Disease, Elsevier, 2010, ⟨10.1016/j.bbadis.2009.11.003⟩.
مصطلحات موضوعية: Fabry disease, 1-deoxygalactonojirimicin, Chaperones, α-galactosidase, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
العلاقة: hal-00556270; https://hal.archives-ouvertes.fr/hal-00556270Test; https://hal.archives-ouvertes.fr/hal-00556270/documentTest; https://hal.archives-ouvertes.fr/hal-00556270/file/PEER_stage2_10.1016%252Fj.bbadis.2009.11.003.pdfTest
الإتاحة: https://doi.org/10.1016/j.bbadis.2009.11.003Test
https://hal.archives-ouvertes.fr/hal-00556270Test
https://hal.archives-ouvertes.fr/hal-00556270/documentTest
https://hal.archives-ouvertes.fr/hal-00556270/file/PEER_stage2_10.1016%252Fj.bbadis.2009.11.003.pdfTest -
4دورية أكاديمية
المؤلفون: Morrone, A, Cavicchi, C, Bardelli, T, Antuzzi, D, Parini, R, Di Rocco, M, Feriozzi, S, Gabrielli, O, Barone, R, Pistone, G, Spisni, C, Ricci, R, Zammarchi, E
مصطلحات موضوعية: Online mutation reports
وصف الملف: text/html
العلاقة: http://jmg.bmj.com/cgi/content/short/40/8/e103Test; http://dx.doi.org/10.1136/jmg.40.8.e103Test
الإتاحة: https://doi.org/10.1136/jmg.40.8.e103Test
http://jmg.bmj.com/cgi/content/short/40/8/e103Test -
5دورية أكاديمية
المؤلفون: Verrecchia E, Zampetti A, Antuzzi D, Ricci R, Ferri L, Morrone A, Feliciani C, Manna R., DAGNA , LORENZO
المساهمون: Verrecchia, E, Zampetti, A, Antuzzi, D, Ricci, R, Ferri, L, Morrone, A, Feliciani, C, Dagna, Lorenzo, Manna, R.
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000378001400023; volume:32; firstpage:26; lastpage:30; numberofpages:5; journal:EUROPEAN JOURNAL OF INTERNAL MEDICINE; http://hdl.handle.net/20.500.11768/14838Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84964334264
الإتاحة: https://doi.org/20.500.11768/14838Test
https://doi.org/10.1016/j.ejim.2016.03.015Test
https://hdl.handle.net/20.500.11768/14838Test -
6دورية أكاديمية
المؤلفون: Caciotti A, TONIN, RODOLFO, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, GIGLIO, SABRINA RITA, GUERRINI, RENZO, Parini R, MORRONE, AMELIA
المساهمون: Caciotti, A, Tonin, Rodolfo, Rigoldi, M, Ferri, L, Catarzi, S, Cavicchi, C, Procopio, E, Donati, Ma, Ficcadenti, A, Fiumara, A, Barone, R, Garavelli, L, Rocco, Md, Filocamo, M, Antuzzi, D, Scarpa, M, Mooney, Sd, Li, B, Skouma, A, Bianca, S, Concolino, D, Casalone, R, Monti, E, Pantaleo, M, Giglio, SABRINA RITA, Guerrini, Renzo, Parini, R, Morrone, Amelia
مصطلحات موضوعية: GALNS gene, Morquio A, N-acetylgalactosamine-6-sulfatase, Genotype-phenotype correlation, Copy-number variation, QF-PCRs [quantitative fluorescent-PCRs], CGH-array, PIEZO1 gene, m-RNA defects
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25545067; info:eu-repo/semantics/altIdentifier/wos/WOS:000351399900012; volume:36; issue:3; firstpage:357; lastpage:368; numberofpages:12; journal:HUMAN MUTATION; http://hdl.handle.net/11584/298155Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84924558004
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7دورية أكاديمية
المؤلفون: Guerriero C, Valentini P, Zampino G, Lazzareschi I, Antuzzi D, Rigante D
المساهمون: Bersani, G, Guerriero, Cristina, Ricci, F, Valentini, Piero, Zampino, Giuseppe, Lazzareschi, Ilaria, Antuzzi, Daniela, Rigante, Donato
مصطلحات موضوعية: Gangliosidosis, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26765271; volume:14; issue:3; firstpage:301; lastpage:302; numberofpages:2; issueyear:2016; journal:JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT; http://hdl.handle.net/10807/155511Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84980469439
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8
المؤلفون: Concolino, D, Degennaro, E, Parini, R, Antuzzi, D, Bembi, B, Benso, A, Carraro, G, Chimenti, C, Colla, L, Cuonzo, M, Del Rosso, G, Diomedi, M, Feliciani, C, Feriozzi, S, Ficcadenti, A, Frustaci, A, Gnarra, M, Maccarone, M, Mancuso, M, Matucci, A, Mignani, R, Musumeci, B, Nencini, P, Piga, S, Pisani, A, Re, F, Salviati, A, Spada, M, Vultaggio, A, Zachara, Zedde, E, Zoli, P
المساهمون: Concolino, D., Degennaro, E., Parini, R., Antuzzi, D., Bembi, B., Benso, A., Carraro, G., Chimenti, C., Colla, L., Cuonzo, M. T., Del Rosso, G., Diomedi, M., Feliciani, C., Feriozzi, S., Ficcadenti, A., Frustaci, A., Gnarra, M., Maccarone, M., Mancuso, M., Matucci, A., Mignani, R., Musumeci, B., Nencini, P., Piga, S., Pisani, A., Re, F., Salviati, A., Spada, M., Vultaggio, A., Zachara, E., Zedde, M. L., Zoli, P. G.
مصطلحات موضوعية: Male, medicine.medical_specialty, Delphi Technique, Vital signs, Delphi method, Practice Patterns, Disease, Electrocardiography, Fabry disease, diagnosis, treatment, management, Diagnosis, Ambulatory, Biopsy, Internal Medicine, Medicine, Humans, Enzyme Replacement Therapy, Disease management (health), Practice Patterns, Physicians', Intensive care medicine, Adverse effect, Settore MED/14 - Nefrologia, Physicians', medicine.diagnostic_test, business.industry, Management, Treatment, Disease Management, Disease Progression, Electrocardiography, Ambulatory, Fabry Disease, Female, Genetic Diseases, X-Linked, Physician's Practice Patterns, Medicine (all), Enzyme replacement therapy, X-Linked, medicine.disease, Settore MED/03 - Genetica Medica, Genetic Diseases, Physical therapy, Settore MED/26 - Neurologia, business, Diagnosi, Human
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::377927943b7f13879060fbbb1fde0fbcTest
http://hdl.handle.net/11588/794899Test -
9مؤتمر
المؤلفون: CHIMENTI, CRISTINA, RUSSO, Matteo Antonio, FRUSTACI, ANDREA, PIERONI M, MORGANTE E, VERARDO R, ANTUZZI D, MASERI A
المساهمون: Chimenti, Cristina, Pieroni, M, Morgante, E, Verardo, R, Antuzzi, D, Russo, Matteo Antonio, Maseri, A, Frustaci, Andrea
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000185638802042; Congress of the European-Society-of-Cardiology; volume:24 (S); firstpage:561; lastpage:561; numberofpages:1; journal:EUROPEAN HEART JOURNAL; http://hdl.handle.net/11573/491092Test
الإتاحة: https://doi.org/10.1016/S0195-668XTest(03)95693-4
http://hdl.handle.net/11573/491092Test -
10مؤتمر
المؤلفون: BECCARI, Tommaso, ORLACCHIO, Aldo, Bibi L., Ricci R., Antuzzi D., Burgalossi A., Costanzi E.
المساهمون: Beccari, Tommaso, Bibi, L., Ricci, R., Antuzzi, D., Burgalossi, A., Costanzi, E., Orlacchio, Aldo
مصطلحات موضوعية: a-mannosidose mutation diagnosis
العلاقة: ispartofbook:14° ESGLD (European Study Group in Lysosomal Disease) Workshop; http://hdl.handle.net/11391/9725Test
الإتاحة: http://hdl.handle.net/11391/9725Test
