{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T18:49:28Z","timestamp":1720723768758},"reference-count":28,"publisher":"EDP Sciences","license":[{"start":{"date-parts":[[2021,1,11]],"date-time":"2021-01-11T00:00:00Z","timestamp":1610323200000},"content-version":"vor","delay-in-days":41,"URL":"https:\/\/www.edpsciences.org\/en\/authors\/copyright-and-licensing"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:p>La philosophie confuc\u00e9enne nous enseigne que la recherche de la v\u00e9rit\u00e9 n\u2019emprunte pas toujours un chemin rectiligne. L\u2019observation clinique pr\u00e9sent\u00e9e ici l\u2019illustre parfaitement. Il y est question d\u2019un enfant souffrant d\u2019une maladie neuromusculaire rare (en chinois, le mot myopathie se traduit par \u6e10\u51bb\u4eba soit \u00ab homme gel\u00e9 \u00bb) chez qui fut suspect\u00e9 un d\u00e9ficit en cristalline \u03b1B. Les auteurs profitent de l\u2019occasion pour mettre le projecteur sur la Chine, ce grand pays qui n\u2019a pas attendu Alain Peyrefitte pour s\u2019\u00e9veiller ou, plus exactement, se r\u00e9veiller. \u00e0 la lumi\u00e8re de missions pass\u00e9es et r\u00e9centes dans l\u2019ex-Empire du Milieu, le point est fait sur les enjeux m\u00e9dico-scientifiques mais aussi soci\u00e9taux de ce pays en passe de devenir, peut-\u00eatre, un g\u00e9ant dans le domaine des maladies neuromusculaires.<\/jats:p>","DOI":"10.1051\/medsci\/2020266","type":"journal-article","created":{"date-parts":[[2021,1,11]],"date-time":"2021-01-11T10:18:03Z","timestamp":1610360283000},"page":"38-50","source":"Crossref","is-referenced-by-count":0,"special_numbering":"Hors s\u00e9rie n\u00b0 2","title":["L\u2019Homme Gel\u00e9 (\u6e10\u51bb\u4eba) et le d\u00e9ficit en cristalline \u03b1B"],"prefix":"10.1051","volume":"36","author":[{"given":"J. Andoni","family":"Urtizberea","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Claude","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2021,1,11]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/1765","volume":"20","author":"Vicart","year":"1998","journal-title":"Nat Genet"},{"key":"R2","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1002\/ana.10767","volume":"54","author":"Sel\u00e7en","year":"2003","journal-title":"Ann. Neurol"},{"key":"R3","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1016\/j.neurol.2015.06.002","volume":"171","author":"B\u00e9hin","year":"2015","journal-title":"Rev Neurol (Paris)"},{"key":"R4","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.3390\/ijms21041409","volume":"21","author":"Sarparanta","year":"2020","journal-title":"Int J Mol Sci"},{"key":"R5","first-page":"411","volume":"134","author":"Fardeau","year":"1978","journal-title":"Rev Neurol"},{"key":"R6","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1097\/00005072-199605000-00009","volume":"55","author":"De Bleecker","year":"1996","journal-title":"J Neuropathol Exp Neurol"},{"key":"R7","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.nmd.2011.07.004","volume":"22","author":"Sacconi","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"R8","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.nmd.2010.01.012","volume":"20","author":"Reilich","year":"2010","journal-title":"Neuromuscul Disord"},{"key":"R9","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1086\/324158","volume":"69","author":"Berry","year":"2001","journal-title":"Am J Hum Genet"},{"key":"R10","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1167\/iovs.05-1004","volume":"47","author":"Liu","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R11","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.bbrc.2006.01.154","volume":"342","author":"Inagaki","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"R12","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1111\/1440-1681.12253","volume":"41","author":"Jiao","year":"2014","journal-title":"Clin Exp Pharmacol Physiol"},{"key":"R13","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1002\/humu.23248","volume":"38","author":"Brodehl","year":"2017","journal-title":"Hum Mutat"},{"key":"R14","doi-asserted-by":"crossref","first-page":"116999","DOI":"10.1016\/j.jns.2020.116999","volume":"416","author":"Bortolani","year":"2020","journal-title":"J Neurol Sci"},{"key":"R15","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1111\/cge.12169","volume":"85","author":"Van der Smagt","year":"2014","journal-title":"Clin Genet"},{"key":"R16","first-page":"980","volume":"15","author":"Safieh","year":"2009","journal-title":"Mol Vis"},{"key":"R17","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1017\/S0317167100041172","volume":"21","author":"Lacson","year":"1994","journal-title":"Can J Neurol Sci"},{"key":"R18","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1002\/ana.22331","volume":"69","author":"Del Bigio","year":"2011","journal-title":"Ann Neurol"},{"key":"R19","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.nmd.2010.11.003","volume":"21","author":"Forrest","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"R20","first-page":"134","volume":"37","author":"Wu","year":"2019","journal-title":"Clin Pediatr"},{"key":"R21","doi-asserted-by":"crossref","first-page":"e825","DOI":"10.1002\/mgg3.825","volume":"7","author":"Ma","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"R22","doi-asserted-by":"crossref","first-page":"e1290","DOI":"10.1002\/mgg3.1290","volume":"8","author":"Marcos","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"R23","doi-asserted-by":"crossref","unstructured":"Beck DB, Ferrada MA, Sikora KA, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Eng J Med 2020. doi: 10.1056\/NEJMoa2026834.","DOI":"10.1056\/NEJMoa2026834"},{"key":"R24","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/S0960-8966(03)00116-0","volume":"13","author":"Urtizberea","year":"2003","journal-title":"Neuromuscul Dis"},{"key":"R25","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/S0960-8966(03)00117-2","volume":"13","author":"Courdier-Fruh","year":"2003","journal-title":"Neuromuscul Dis"},{"key":"R26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.5582\/irdr.2017.01003","volume":"6","author":"Song","year":"2017","journal-title":"Intractable Rare Dis Res"},{"key":"R27","first-page":"204","volume":"3","author":"Xu","year":"2015","journal-title":"Ann Transl Med"},{"key":"R28","first-page":"1","volume":"59","author":"Delpech","year":"2019","journal-title":"Les Tribunes de la Sant\u00e9"}],"container-title":["m\u00e9decine\/sciences"],"original-title":[],"link":[{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2020266\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T10:10:31Z","timestamp":1697537431000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2020266"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":28,"alternative-id":["medsci200266s"],"URL":"https:\/\/doi.org\/10.1051\/medsci\/2020266","relation":{},"ISSN":["0767-0974","1958-5381"],"issn-type":[{"value":"0767-0974","type":"print"},{"value":"1958-5381","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12]]}}}