. . . "Fucosidose"@de . "29471" . "Fucosidosis"@en . . . . . "\u5CA9\u85FB\u7CD6\u82F7\u8D2E\u79EF\u75C7\uFF08\u82F1\u8A9E\uFF1AFucosidosis\uFF09\u662F\u4E00\u7A2E\u6EB6\u5C0F\u9AD4\u5132\u7A4D\u75C7\uFF0C\u5176\u6703\u5C0E\u81F4\u8A31\u591A\u5668\u5B98\u5448\u73FE\u5EE3\u6CDB\u6027\u3001\u4EE5\u53CA\u5BE1\u7CD6\u7684\u5806\u7A4D\u3002\u4EA6\u6703\u7522\u751F\uFF0C\u5EE3\u6CDB\u6027\u6BDB\u7D30\u7BA1\u64F4\u5F35\uFF0C\u7B49\u3002 \u6B64\u907A\u50B3\u75C5\u81F3\u4ECA\u53EA\u6709100\u591A\u5B97\u5831\u544A\u3002 \u907A\u50B3\u65B9\u9762\uFF0C\u5176\u907A\u50B3\u65B9\u5F0F\u70BA\u4E00\u9AD4\u67D3\u8272\u9AD4\u96B1\u6027\u907A\u50B3\uFF0C\u7F3A\u9677\u57FA\u56E0\u4F4D\u65BC\u7B2C1\u865F\u67D3\u8272\u9AD4\u77ED\u81C2\u3002"@zh . "La fucosidosis es una enfermedad de origen gen\u00E9tico, causada por una deficiencia de la enzima alfa-L-fucosidasa. Su frecuencia es muy baja, por lo que se incluye dentro del grupo de las enfermedades raras. Se transmite de padres a hijos seg\u00FAn un patr\u00F3n de herencia autos\u00F3mico recesivo. Los s\u00EDntomas principales consisten en deformidad de la cara (dismorfia facial), retraso mental grave, aumento del tama\u00F1o del h\u00EDgado (hepatomegalia), alteraciones en el desarrollo \u00F3seo (disostosis) y sordera.\u200B\u200B"@es . . . "D005645"@en . "5759754"^^ . . . . . "349" . . . "230000"^^ . . "E77.1" . . . "La Fucosidosi, detta anche \"deficienza \u03B1-L-Fucosidasi\" \u00E8 una rara malattia autosomica recessiva lisosomiale in cui l'enzima Fucosidasi non \u00E8 utilizzato correttamente per idrolizzare il fucosio. Questo enzima normalmente spacca le lunghe catene di carboidrati conosciute come oligosaccaridi all'interno dei lisosomi. Quando questo enzima \u00E8 assente le catene si accumulano nei tessuti e portano alla Fucosidosi. Questa malattia \u00E8 classificata tra le e fa parte dell'eterogeneo gruppo delle malattie da accumulo lisosomiale."@it . "La Fucosidosi, detta anche \"deficienza \u03B1-L-Fucosidasi\" \u00E8 una rara malattia autosomica recessiva lisosomiale in cui l'enzima Fucosidasi non \u00E8 utilizzato correttamente per idrolizzare il fucosio. Questo enzima normalmente spacca le lunghe catene di carboidrati conosciute come oligosaccaridi all'interno dei lisosomi. Quando questo enzima \u00E8 assente le catene si accumulano nei tessuti e portano alla Fucosidosi. Questa malattia \u00E8 classificata tra le e fa parte dell'eterogeneo gruppo delle malattie da accumulo lisosomiale."@it . . "Fucosidosi"@it . . "271.8"^^ . . . . . . . . . . . . "349"^^ . . . . "Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. The result is a buildup of complex sugars in parts of the body, which leads to death.Fucosidosis is one of nine identified glycoprotein storage diseases. The gene encoding the alpha-fucosidase, FUCA 1, was found to be located to the short arm of chromosome 1p36 - p34, by Carrit and co-workers, in 1982."@en . . . . . . . . . . "Fucosidosis"@en . . . . . . . . . . "\u0424\u0443\u043A\u043E\u0437\u0438\u0434\u043E\u0437"@ru . "E77.1"@en . "230000"^^ . "\u0424\u0443\u043A\u043E\u0437\u0438\u0434\u043E\u0301\u0437 (\u043D\u0435\u0434\u043E\u0441\u0442\u0430\u0301\u0442\u043E\u0447\u043D\u043E\u0441\u0442\u044C \u03B1-L-\u0444\u0443\u043A\u043E\u0437\u0438\u0434\u0430\u0301\u0437\u044B) \u2014 \u0440\u0435\u0434\u043A\u043E\u0435 \u043D\u0430\u0441\u043B\u0435\u0434\u0441\u0442\u0432\u0435\u043D\u043D\u043E\u0435 \u0437\u0430\u0431\u043E\u043B\u0435\u0432\u0430\u043D\u0438\u0435 \u0438\u0437 \u0433\u0440\u0443\u043F\u043F\u044B \u043B\u0438\u0437\u043E\u0441\u043E\u043C\u043D\u044B\u0445 \u0431\u043E\u043B\u0435\u0437\u043D\u0435\u0439 \u043D\u0430\u043A\u043E\u043F\u043B\u0435\u043D\u0438\u044F, \u0441\u0432\u044F\u0437\u0430\u043D\u043D\u043E\u0435 \u0441 \u043D\u0435\u0434\u043E\u0441\u0442\u0430\u0442\u043E\u0447\u043D\u043E\u0441\u0442\u044C\u044E \u0433\u0438\u0434\u0440\u043E\u043B\u0430\u0437, \u0440\u0430\u0441\u0449\u0435\u043F\u043B\u044F\u044E\u0449\u0438\u0445 \u043F\u043E\u043B\u0438\u0441\u0430\u0445\u0430\u0440\u0438\u0434\u043D\u044B\u0435 \u0441\u0432\u044F\u0437\u0438. \u0412 \u0440\u0435\u0437\u0443\u043B\u044C\u0442\u0430\u0442\u0435 \u0432\u043D\u0443\u0442\u0440\u0438 \u043A\u043B\u0435\u0442\u043E\u043A \u043D\u0430\u043A\u0430\u043F\u043B\u0438\u0432\u0430\u044E\u0442\u0441\u044F \u0434\u0432\u0430 \u043A\u043B\u0430\u0441\u0441\u0430 \u043C\u0430\u043A\u0440\u043E\u043C\u043E\u043B\u0435\u043A\u0443\u043B: \u0433\u043B\u0438\u043A\u043E\u043B\u0438\u043F\u0438\u0434\u044B \u0438 \u0433\u043B\u0438\u043A\u043E\u043F\u0440\u043E\u0442\u0435\u0438\u043D\u044B. \u041A\u043B\u0438\u043D\u0438\u0447\u0435\u0441\u043A\u0430\u044F \u043A\u0430\u0440\u0442\u0438\u043D\u0430 \u0441\u0432\u044F\u0437\u0430\u043D\u0430 \u0441 \u043C\u0443\u0442\u0430\u0446\u0438\u0435\u0439, \u043F\u0440\u0438\u0432\u043E\u0434\u044F\u0449\u0435\u0439 \u043A \u043F\u043E\u0432\u0440\u0435\u0436\u0434\u0435\u043D\u0438\u044E \u0438\u043B\u0438 \u0434\u0435\u0444\u0438\u0446\u0438\u0442\u0443 \u0444\u0435\u0440\u043C\u0435\u043D\u0442\u0430 \u043B\u0438\u0437\u043E\u0441\u043E\u043C \u0438 \u0445\u0430\u0440\u0430\u043A\u0442\u0435\u0440\u0438\u0437\u0443\u0435\u0442\u0441\u044F \u0440\u0430\u0437\u043D\u043E\u043E\u0431\u0440\u0430\u0437\u043D\u044B\u043C\u0438 \u0441\u043E\u043C\u0430\u0442\u0438\u0447\u0435\u0441\u043A\u0438\u043C\u0438 \u043F\u0440\u043E\u044F\u0432\u043B\u0435\u043D\u0438\u044F\u043C\u0438 \u0438 \u043D\u0430\u0440\u0443\u0448\u0435\u043D\u0438\u0435\u043C \u0444\u0443\u043D\u043A\u0446\u0438\u0438 \u043D\u0435\u0440\u0432\u043D\u043E\u0439 \u0441\u0438\u0441\u0442\u0435\u043C\u044B. \u0417\u0430\u0431\u043E\u043B\u0435\u0432\u0430\u043D\u0438\u0435 \u0442\u0430\u043A\u0436\u0435 \u0432\u0441\u0442\u0440\u0435\u0447\u0430\u0435\u0442\u0441\u044F \u0438 \u0443 \u0436\u0438\u0432\u043E\u0442\u043D\u044B\u0445, \u043D\u0430\u043F\u0440\u0438\u043C\u0435\u0440, \u043E\u043F\u0438\u0441\u0430\u043D \u0444\u0443\u043A\u043E\u0437\u0438\u0434\u043E\u0437 \u0443 \u0441\u043E\u0431\u0430\u043A, \u0432 \u0447\u0430\u0441\u0442\u043D\u043E\u0441\u0442\u0438 \u0430\u043D\u0433\u043B\u0438\u0439\u0441\u043A\u0438\u0445 \u0441\u043F\u0440\u0438\u043D\u0433\u0435\u0440-\u0441\u043F\u0430\u043D\u0438\u044D\u043B\u0435\u0439."@ru . "29471"^^ . "Alpha-L-fucosidase deficiency"@en . "\u5CA9\u85FB\u7CD6\u82F7\u8D2E\u79EF\u75C7"@zh . . "271.8" . . "La fucosidosis es una enfermedad de origen gen\u00E9tico, causada por una deficiencia de la enzima alfa-L-fucosidasa. Su frecuencia es muy baja, por lo que se incluye dentro del grupo de las enfermedades raras. Se transmite de padres a hijos seg\u00FAn un patr\u00F3n de herencia autos\u00F3mico recesivo. Los s\u00EDntomas principales consisten en deformidad de la cara (dismorfia facial), retraso mental grave, aumento del tama\u00F1o del h\u00EDgado (hepatomegalia), alteraciones en el desarrollo \u00F3seo (disostosis) y sordera.\u200B\u200B"@es . . . . "D005645" . . . "Fucosidosis"@es . ""@en . . "8043"^^ . "\u0424\u0443\u043A\u043E\u0437\u0438\u0434\u043E\u0301\u0437 (\u043D\u0435\u0434\u043E\u0441\u0442\u0430\u0301\u0442\u043E\u0447\u043D\u043E\u0441\u0442\u044C \u03B1-L-\u0444\u0443\u043A\u043E\u0437\u0438\u0434\u0430\u0301\u0437\u044B) \u2014 \u0440\u0435\u0434\u043A\u043E\u0435 \u043D\u0430\u0441\u043B\u0435\u0434\u0441\u0442\u0432\u0435\u043D\u043D\u043E\u0435 \u0437\u0430\u0431\u043E\u043B\u0435\u0432\u0430\u043D\u0438\u0435 \u0438\u0437 \u0433\u0440\u0443\u043F\u043F\u044B \u043B\u0438\u0437\u043E\u0441\u043E\u043C\u043D\u044B\u0445 \u0431\u043E\u043B\u0435\u0437\u043D\u0435\u0439 \u043D\u0430\u043A\u043E\u043F\u043B\u0435\u043D\u0438\u044F, \u0441\u0432\u044F\u0437\u0430\u043D\u043D\u043E\u0435 \u0441 \u043D\u0435\u0434\u043E\u0441\u0442\u0430\u0442\u043E\u0447\u043D\u043E\u0441\u0442\u044C\u044E \u0433\u0438\u0434\u0440\u043E\u043B\u0430\u0437, \u0440\u0430\u0441\u0449\u0435\u043F\u043B\u044F\u044E\u0449\u0438\u0445 \u043F\u043E\u043B\u0438\u0441\u0430\u0445\u0430\u0440\u0438\u0434\u043D\u044B\u0435 \u0441\u0432\u044F\u0437\u0438. \u0412 \u0440\u0435\u0437\u0443\u043B\u044C\u0442\u0430\u0442\u0435 \u0432\u043D\u0443\u0442\u0440\u0438 \u043A\u043B\u0435\u0442\u043E\u043A \u043D\u0430\u043A\u0430\u043F\u043B\u0438\u0432\u0430\u044E\u0442\u0441\u044F \u0434\u0432\u0430 \u043A\u043B\u0430\u0441\u0441\u0430 \u043C\u0430\u043A\u0440\u043E\u043C\u043E\u043B\u0435\u043A\u0443\u043B: \u0433\u043B\u0438\u043A\u043E\u043B\u0438\u043F\u0438\u0434\u044B \u0438 \u0433\u043B\u0438\u043A\u043E\u043F\u0440\u043E\u0442\u0435\u0438\u043D\u044B. \u041A\u043B\u0438\u043D\u0438\u0447\u0435\u0441\u043A\u0430\u044F \u043A\u0430\u0440\u0442\u0438\u043D\u0430 \u0441\u0432\u044F\u0437\u0430\u043D\u0430 \u0441 \u043C\u0443\u0442\u0430\u0446\u0438\u0435\u0439, \u043F\u0440\u0438\u0432\u043E\u0434\u044F\u0449\u0435\u0439 \u043A \u043F\u043E\u0432\u0440\u0435\u0436\u0434\u0435\u043D\u0438\u044E \u0438\u043B\u0438 \u0434\u0435\u0444\u0438\u0446\u0438\u0442\u0443 \u0444\u0435\u0440\u043C\u0435\u043D\u0442\u0430 \u043B\u0438\u0437\u043E\u0441\u043E\u043C \u0438 \u0445\u0430\u0440\u0430\u043A\u0442\u0435\u0440\u0438\u0437\u0443\u0435\u0442\u0441\u044F \u0440\u0430\u0437\u043D\u043E\u043E\u0431\u0440\u0430\u0437\u043D\u044B\u043C\u0438 \u0441\u043E\u043C\u0430\u0442\u0438\u0447\u0435\u0441\u043A\u0438\u043C\u0438 \u043F\u0440\u043E\u044F\u0432\u043B\u0435\u043D\u0438\u044F\u043C\u0438 \u0438 \u043D\u0430\u0440\u0443\u0448\u0435\u043D\u0438\u0435\u043C \u0444\u0443\u043D\u043A\u0446\u0438\u0438 \u043D\u0435\u0440\u0432\u043D\u043E\u0439 \u0441\u0438\u0441\u0442\u0435\u043C\u044B."@ru . . . "120"^^ . . . . . . . "Fucosidose, h\u00E4ufig auch Fukosidose geschrieben oder als \u03B1-L-Fucosidase-Mangel bezeichnet, ist eine sehr seltene autosomal-rezessiv vererbte lysosomale Speicherkrankheit aus der Gruppe der Oligosaccharidosen."@de . . . . "\u5CA9\u85FB\u7CD6\u82F7\u8D2E\u79EF\u75C7\uFF08\u82F1\u8A9E\uFF1AFucosidosis\uFF09\u662F\u4E00\u7A2E\u6EB6\u5C0F\u9AD4\u5132\u7A4D\u75C7\uFF0C\u5176\u6703\u5C0E\u81F4\u8A31\u591A\u5668\u5B98\u5448\u73FE\u5EE3\u6CDB\u6027\u3001\u4EE5\u53CA\u5BE1\u7CD6\u7684\u5806\u7A4D\u3002\u4EA6\u6703\u7522\u751F\uFF0C\u5EE3\u6CDB\u6027\u6BDB\u7D30\u7BA1\u64F4\u5F35\uFF0C\u7B49\u3002 \u6B64\u907A\u50B3\u75C5\u81F3\u4ECA\u53EA\u6709100\u591A\u5B97\u5831\u544A\u3002 \u907A\u50B3\u65B9\u9762\uFF0C\u5176\u907A\u50B3\u65B9\u5F0F\u70BA\u4E00\u9AD4\u67D3\u8272\u9AD4\u96B1\u6027\u907A\u50B3\uFF0C\u7F3A\u9677\u57FA\u56E0\u4F4D\u65BC\u7B2C1\u865F\u67D3\u8272\u9AD4\u77ED\u81C2\u3002"@zh . "1095040820"^^ . . "Fucosidose, h\u00E4ufig auch Fukosidose geschrieben oder als \u03B1-L-Fucosidase-Mangel bezeichnet, ist eine sehr seltene autosomal-rezessiv vererbte lysosomale Speicherkrankheit aus der Gruppe der Oligosaccharidosen."@de . "Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. The result is a buildup of complex sugars in parts of the body, which leads to death.Fucosidosis is one of nine identified glycoprotein storage diseases. The gene encoding the alpha-fucosidase, FUCA 1, was found to be located to the short arm of chromosome 1p36 - p34, by Carrit and co-workers, in 1982."@en . "Fucosidosis"@en . .