{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T04:34:39Z","timestamp":1791434079649,"version":"4.3.3"},"reference-count":43,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,11]],"date-time":"2020-08-11T00:00:00Z","timestamp":1597104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>In GM1 gangliosidosis the lack of function of \u03b2\u2010galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and premature death. In the type 2 form of the disease, early intervention would be important to avoid precocious complications. To date, there are no effective therapeutic options in preventing progressive neurological deterioration. Substrate reduction therapy with Miglustat, a N\u2010alkylated sugar that inhibits the enzyme glucosylceramide synthase, has been proposed for the treatment of several lysosomal storage disorders such as Gaucher type 1 and Niemann Pick Type C diseases. However, data on Miglustat therapy in patients with GM1 gangliosidosis are still scarce.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report here the results of Miglustat administration in four Italian children (average age: 55\u00a0months, range 20\u2013125) affected by GM1 gangliosidosis type 2 treated in three different Italian pediatric hospitals specialized in metabolic diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This treatment was safe and relatively well tolerated by all patients, with stabilization and\/or slowing down of the neurological progression in three subjects.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1371","type":"journal-article","created":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T02:13:28Z","timestamp":1597198408000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience"],"prefix":"10.1002","volume":"8","author":[{"given":"Rita","family":"Fischetto","sequence":"first","affiliation":[{"name":"Clinical Genetics Unit Department of Pediatric Medicine Giovanni XXIII Children's Hospital Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3976-6463","authenticated-orcid":false,"given":"Valentina","family":"Palladino","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science and Human Oncology Pediatric Unit University of Bari \u201cAldo Moro\u201d Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria M.","family":"Mancardi","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, Clinical and Surgical Neurosciences Department IRCCS Institute Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thea","family":"Giacomini","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, Clinical and Surgical Neurosciences Department IRCCS Institute Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Palladino","sequence":"additional","affiliation":[{"name":"Radiology Unit Pediatric Hospital Giovanni XXIII Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Gaeta","sequence":"additional","affiliation":[{"name":"Radiology Unit Pediatric Hospital Giovanni XXIII Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9677-880X","authenticated-orcid":false,"given":"Maja","family":"Di Rocco","sequence":"additional","affiliation":[{"name":"Unit of Rare Diseases IRCCS Institute Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Zampini","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences Division of Pediatrics Polytechnic University of Marche OspedaliRiuniti Presidio Salesi Ancona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Lassandro","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science and Human Oncology Pediatric Unit University of Bari \u201cAldo Moro\u201d Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vito","family":"Favia","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Department of Pediatric Medicine Giovanni XXIII Children's Hospital Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria E.","family":"Tripaldi","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science and Human Oncology Pediatric Unit University of Bari \u201cAldo Moro\u201d Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Strisciuglio","sequence":"additional","affiliation":[{"name":"Department of Medical Translational Sciences Section of Pediatrics University Federico II Naples Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfonso","family":"Romano","sequence":"additional","affiliation":[{"name":"Department of Medical Translational Sciences Section of Pediatrics University Federico II Naples Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariasavina","family":"Severino","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit IRCCS Institute Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2890-8179","authenticated-orcid":false,"given":"Amelia","family":"Morrone","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit and Laboratories Neuroscience Department Meyer Children's Hospital Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Giordano","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science and Human Oncology Pediatric Unit University of Bari \u201cAldo Moro\u201d Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2005.05.007"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0013468"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010011\u20109368\u20107"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.04.012"},{"key":"e_1_2_8_6_1","first-page":"1628","article-title":"Neuroimaging findings in late infantile GM1 gangliosidosis","volume":"19","author":"Chen C. Y.","year":"1998","journal-title":"AJNR. American Journal of Neuroradiology"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA119.009811"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.12.002"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2015.01.001"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(00)02161\u20109"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1508"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000112837"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011\u2010017\u20100044\u2010y"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.04.005"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20102005\u2010865863"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.02.005"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2006.08.005"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.2147\/tcrm.s6865"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/ejhpharm\u20102013\u2010000276.543"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738050200010901"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010014\u20109718\u20103"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.04.011"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102990.2002.00422.x"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.v97.1.327"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg089"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471\u20104159.2004.02381.x"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2013.04.005"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010010\u20109186\u20103"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.03.012"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2015.62"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(07)70194\u20101"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)37202-2"},{"key":"e_1_2_8_33_1","first-page":"663","article-title":"The GM1 and GM2 Gangliosidoses: Natural history and progress toward therapy","volume":"13","author":"Regier D. S.","year":"2016","journal-title":"Pediatric Endocrinology Review: PER"},{"key":"e_1_2_8_34_1","volume-title":"GeneReviews\u00ae","author":"Regier D. S.","year":"2013"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0822\u201013.2013"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102005\u201003\u20101189"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e31828dc614"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.11.004"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21284"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/bf00293589"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/bf00217370"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.08.060"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1080\/00498250601094543"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1089\/dna.1990.9.119"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.1371","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1371","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1371","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1371","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T06:49:33Z","timestamp":1720075773000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1371"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,11]]},"references-count":43,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1002\/mgg3.1371"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1371","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,11]]},"assertion":[{"value":"2020-03-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1371"}}