. . "Die Sandhoff-Krankheit (auch Morbus Sandhoff, nach Konrad Sandhoff oder Sandhoff-Jatzkewitz-Krankheit) ist eine sehr seltene autosomal-rezessiv vererbte lysosomale Speicherkrankheit aus der Gruppe der Sphingolipidosen. Es handelt sich um eine progredient verlaufende neurodegenerative Erkrankung, bei der es zu einer Anreicherung von GM2-Gangliosiden speziell in den Nervenzellen kommt."@de . . . . . . . . "\u062F\u0627\u0621 \u0633\u0627\u0646\u062F\u0647\u0648\u0641 \u0647\u0648 \u0627\u0636\u0637\u0631\u0627\u0628 \u0648\u0631\u0627\u062B\u064A \u0644\u062E\u0632\u0646 \u0627\u0644\u0634\u062D\u0648\u0645 \u0645\u064F\u062A\u0639\u0644\u0642 \u0628\u0627\u0644\u062C\u0633\u064A\u0645\u0627\u062A \u0627\u0644\u062D\u0627\u0644\u064E\u0651\u0629 (\u0627\u0644\u0644\u064A\u0632\u0648\u0632\u0648\u0645\u0627\u062A)\u060C \u0633\u0628\u0628\u0647 \u0646\u0642\u0635 \u0648\u0631\u0627\u062B\u064A \u0641\u064A \u0627\u0644\u062A\u0634\u0643\u0644 \u0627\u0644\u0648\u0638\u064A\u0641\u064A \u0644\u0628\u064A\u062A\u0627 \u0647\u064A\u0643\u0633\u0648\u0632\u0627\u0645\u064A\u062F\u064A\u0646 \u0625\u064A\u0647 \u0648\u0628\u064A. \u0647\u0630\u0647 \u0627\u0644\u0623\u0646\u0632\u064A\u0645\u0627\u062A \u0627\u0644\u0627\u0633\u062A\u0642\u0644\u0627\u0628\u064A\u0629 \u0636\u0631\u0648\u0631\u064A\u0629 \u0644\u062A\u0642\u0648\u064A\u0636 \u0645\u0643\u0648\u0646\u0627\u062A \u0627\u0644\u063A\u0634\u0627\u0621 \u0627\u0644\u062E\u0644\u0648\u064A \u0644\u0644\u062E\u0644\u0627\u064A\u0627 \u0627\u0644\u0639\u0635\u0628\u064A\u0629 \u0627\u0644\u063A\u0627\u0646\u063A\u0644\u064A\u0648\u0632\u064A\u062F \u062C\u064A \u0625\u0645 2\u060C \u0648\u062C\u064A \u0625\u064A\u0647 2 \u0627\u0644\u0645\u0634\u062A\u0642\u0629 \u0645\u0646\u0647\u0627\u060C \u0648\u0627\u0644\u063A\u0644\u064A\u0628\u0648\u0632\u064A\u062F \u0627\u0644\u0634\u062D\u0645\u064A\u0629 \u0627\u0644\u0633\u0643\u0631\u064A\u0629 \u0627\u0644\u0645\u0648\u062C\u0648\u062F\u0629 \u0641\u064A \u0627\u0644\u0623\u062D\u0634\u0627\u0621 \u0648\u0628\u0639\u0636 \u0627\u0644\u0633\u0643\u0631\u064A\u0627\u062A \u0642\u0644\u064A\u0644\u0629 \u0627\u0644\u062D\u062F\u0648\u062F. \u062A\u0631\u0627\u0643\u0645 \u0647\u0630\u0647 \u0627\u0644\u0645\u0633\u062A\u0642\u0644\u0628\u0627\u062A \u064A\u0624\u062F\u064A \u0625\u0644\u0649 \u062A\u0646\u0643\u0651\u0633 \u0645\u062A\u0631\u0642\u064A \u0641\u064A \u0627\u0644\u062C\u0647\u0627\u0632 \u0627\u0644\u0639\u0635\u0628\u064A \u0627\u0644\u0645\u0631\u0643\u0632\u064A \u0648\u0627\u0644\u0645\u0648\u062A \u0628\u0627\u0644\u0646\u0647\u0627\u064A\u0629. \u064A\u0635\u0639\u0628 \u062A\u0645\u064A\u064A\u0632 \u0647\u0630\u0627 \u0627\u0644\u062A\u0646\u0643\u0633 \u0627\u0644\u0639\u0635\u0628\u064A \u0627\u0644\u062A\u0642\u0647\u0642\u0631\u064A \u0627\u0644\u0645\u062A\u0639\u0644\u0642 \u0628\u0627\u0644\u0635\u0628\u063A\u064A\u0627\u062A \u0633\u0631\u064A\u0631\u064A\u064B\u0627 \u0639\u0646 \u062F\u0627\u0621 \u062A\u0627\u064A \u2013 \u0633\u0627\u0643\u0633\u060C \u0648\u0647\u0648 \u0627\u0636\u0637\u0631\u0627\u0628 \u0648\u0631\u0627\u062B\u064A \u0622\u062E\u0631 \u064A\u062D\u0635\u0644 \u0641\u064A\u0647 \u062E\u0644\u0644 \u0641\u064A \u0628\u064A\u062A\u0627 \u2013 \u0647\u064A\u0633\u0643\u0648\u0632\u0623\u0645\u064A\u062F\u064A\u0646 \u0625\u064A\u0647 \u0648\u0625\u0633. \u0647\u0646\u0627\u0643 \u062B\u0644\u0627\u062B \u062A\u062D\u062A \u0635\u0641\u0648\u0641 \u0644\u0647\u0630\u0627 \u0627\u0644\u062F\u0627\u0621 \u062A\u064F\u0635\u0646\u0641 \u0639\u0644\u0649 \u0623\u0633\u0627\u0633 \u0627\u0644\u0639\u0645\u0631 \u0627\u0644\u0630\u064A \u0628\u062F\u0623\u062A \u0628\u0647 \u0627\u0644\u0623\u0639\u0631\u0627\u0636: \u0627\u0644\u0634\u0643\u0644 \u0627\u0644\u062A\u0642\u0644\u064A\u062F\u064A \u0627\u0644\u0630\u064A \u064A\u0635\u064A\u0628 \u0627\u0644\u0623\u0637\u0641\u0627\u0644 \u0648\u0627\u0644\u0634\u0643\u0644 \u0627\u0644\u0630\u064A \u064A\u0635\u064A\u0628 \u0627\u0644\u0645\u0631\u0627\u0647\u0642\u064A\u0646 \u0648\u0627\u0644\u0634\u0643\u0644 \u0627\u0644\u0645\u062A\u0623\u062E\u0631 \u0627\u0644\u0638\u0647\u0648\u0631 \u0639\u0646\u062F \u0627\u0644\u0628\u0627\u0644\u063A\u064A\u0646."@ar . . "330.1" . . "Enfermedad de Sandhoff"@es . "24052"^^ . . . . . . . . . . . . "268800"^^ . . "D012497"@en . . . . . . . . "Sandhoff disease"@en . "Die Sandhoff-Krankheit (auch Morbus Sandhoff, nach Konrad Sandhoff oder Sandhoff-Jatzkewitz-Krankheit) ist eine sehr seltene autosomal-rezessiv vererbte lysosomale Speicherkrankheit aus der Gruppe der Sphingolipidosen. Es handelt sich um eine progredient verlaufende neurodegenerative Erkrankung, bei der es zu einer Anreicherung von GM2-Gangliosiden speziell in den Nervenzellen kommt."@de . . . . . . . . "Sandhoff disease is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, and some oligosaccharides. Accumulation of these metabolites leads to a progressive destruction of the central nervous system and eventually to death. The rare autosomal recessive neurodegenerative disorder is clinically almost indistinguishable from Tay\u2013Sachs disease, another genetic disorder that disrupts beta-hexosaminidases A and S. There are three subsets of Sandhoff disease based on when first symptoms appear: classic infantile, juvenile and adult late onset."@en . . . . "796"^^ . . . "La enfermedad de Sandhoff o enfermedad de Sandhoff-Jatzkewitz es una enfermedad gen\u00E9tica de almacenamiento lisos\u00F3mico, autos\u00F3mica recesiva heter\u00F3genea que afecta el sistema nervioso,\u200B cuya causa es la deficiencia en las enzimas \u03B2 A y \u03B2 hexosaminidasa B de los lisosomas teniendo como resultado la acumulaci\u00F3n de esfingol\u00EDpidos (gangli\u00F3sidoGM2 y glob\u00F3sido) en el cerebro y otros \u00F3rganos del cuerpo."@es . . . . . "268800"^^ . . . "29469" . . . "Sandhoff disease"@en . . . . . . . . . . . "E75.0" . . . . . "796" . . . "\u0421\u0438\u043D\u0434\u0440\u043E\u043C \u0421\u0430\u043D\u0434\u0445\u043E\u0444\u0444\u0430 (\u0431\u043E\u043B\u0435\u0437\u043D\u044C \u0421\u0430\u043D\u0434\u0445\u043E\u0444\u0444\u0430) \u2014 \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, \u0432\u0430\u0440\u0438\u0430\u043D\u0442 0 GM2-\u0433\u0430\u043D\u0433\u043B\u0438\u043E\u0437\u0438\u0434\u043E\u0437\u0430 \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 \u2014 \u043D\u0430\u0440\u0443\u0448\u0435\u043D\u0438\u0435 \u043B\u0438\u043F\u0438\u0434\u043D\u043E\u0433\u043E \u043E\u0431\u043C\u0435\u043D\u0430, \u0432\u044B\u0437\u0432\u0430\u043D\u043D\u043E\u0435 \u043D\u0430\u0441\u043B\u0435\u0434\u0441\u0442\u0432\u0435\u043D\u043D\u044B\u043C \u0434\u0435\u0444\u0438\u0446\u0438\u0442\u043E\u043C (\u043D\u0435\u0434\u043E\u0441\u0442\u0430\u0442\u043E\u0447\u043D\u043E\u0441\u0442\u044C\u044E) \u0444\u0435\u0440\u043C\u0435\u043D\u0442\u043E\u0432 \u0431\u0435\u0442\u0430-\u0433\u0435\u043A\u0441\u043E\u0437\u0430\u043C\u0438\u043D\u0438\u0434\u0430\u0437\u044B \u0410 \u0438 \u0411."@ru . . . . . . . . . . . . . "Sandhoff disease is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, and some oligosaccharides. Accumulation of these metabolites leads to a progressive destruction of the central nervous system and eventually to death. The rare autosomal recessive neurodegenerative disorder is clinically almost indistinguishable from Tay\u2013Sachs disease, another genetic disorder that disrupts beta-hexosaminidases A and S. There are three subsets of Sandhoff disease based on when first symptoms appear: classic infantile, juvenile and adult late onset."@en . . . . . . . . . . "Doen\u00E7a de Sandhoff"@pt . . "\u062F\u0627\u0621 \u0633\u0627\u0646\u062F\u0647\u0648\u0641"@ar . . . . . . . . . . . . . . . . . "La enfermedad de Sandhoff o enfermedad de Sandhoff-Jatzkewitz es una enfermedad gen\u00E9tica de almacenamiento lisos\u00F3mico, autos\u00F3mica recesiva heter\u00F3genea que afecta el sistema nervioso,\u200B cuya causa es la deficiencia en las enzimas \u03B2 A y \u03B2 hexosaminidasa B de los lisosomas teniendo como resultado la acumulaci\u00F3n de esfingol\u00EDpidos (gangli\u00F3sidoGM2 y glob\u00F3sido) en el cerebro y otros \u00F3rganos del cuerpo. Muestra la sintomatolog\u00EDa neurol\u00F3gica de la Enfermedad de Tay-Sachs (retraso mental, ceguera, muerte prematura), por lo que es casi imposible diferenciar ambas enfermedades. Actualmente no existe un tratamiento para evitar el progreso de la enfermedad. Los beb\u00E9s afectados con esta enfermedad suelen fallecer a temprana edad."@es . . . . . "Sandhoff-Krankheit"@de . . "E75.0"@en . "\u062F\u0627\u0621 \u0633\u0627\u0646\u062F\u0647\u0648\u0641 \u0647\u0648 \u0627\u0636\u0637\u0631\u0627\u0628 \u0648\u0631\u0627\u062B\u064A \u0644\u062E\u0632\u0646 \u0627\u0644\u0634\u062D\u0648\u0645 \u0645\u064F\u062A\u0639\u0644\u0642 \u0628\u0627\u0644\u062C\u0633\u064A\u0645\u0627\u062A \u0627\u0644\u062D\u0627\u0644\u064E\u0651\u0629 (\u0627\u0644\u0644\u064A\u0632\u0648\u0632\u0648\u0645\u0627\u062A)\u060C \u0633\u0628\u0628\u0647 \u0646\u0642\u0635 \u0648\u0631\u0627\u062B\u064A \u0641\u064A \u0627\u0644\u062A\u0634\u0643\u0644 \u0627\u0644\u0648\u0638\u064A\u0641\u064A \u0644\u0628\u064A\u062A\u0627 \u0647\u064A\u0643\u0633\u0648\u0632\u0627\u0645\u064A\u062F\u064A\u0646 \u0625\u064A\u0647 \u0648\u0628\u064A. \u0647\u0630\u0647 \u0627\u0644\u0623\u0646\u0632\u064A\u0645\u0627\u062A \u0627\u0644\u0627\u0633\u062A\u0642\u0644\u0627\u0628\u064A\u0629 \u0636\u0631\u0648\u0631\u064A\u0629 \u0644\u062A\u0642\u0648\u064A\u0636 \u0645\u0643\u0648\u0646\u0627\u062A \u0627\u0644\u063A\u0634\u0627\u0621 \u0627\u0644\u062E\u0644\u0648\u064A \u0644\u0644\u062E\u0644\u0627\u064A\u0627 \u0627\u0644\u0639\u0635\u0628\u064A\u0629 \u0627\u0644\u063A\u0627\u0646\u063A\u0644\u064A\u0648\u0632\u064A\u062F \u062C\u064A \u0625\u0645 2\u060C \u0648\u062C\u064A \u0625\u064A\u0647 2 \u0627\u0644\u0645\u0634\u062A\u0642\u0629 \u0645\u0646\u0647\u0627\u060C \u0648\u0627\u0644\u063A\u0644\u064A\u0628\u0648\u0632\u064A\u062F \u0627\u0644\u0634\u062D\u0645\u064A\u0629 \u0627\u0644\u0633\u0643\u0631\u064A\u0629 \u0627\u0644\u0645\u0648\u062C\u0648\u062F\u0629 \u0641\u064A \u0627\u0644\u0623\u062D\u0634\u0627\u0621 \u0648\u0628\u0639\u0636 \u0627\u0644\u0633\u0643\u0631\u064A\u0627\u062A \u0642\u0644\u064A\u0644\u0629 \u0627\u0644\u062D\u062F\u0648\u062F. \u062A\u0631\u0627\u0643\u0645 \u0647\u0630\u0647 \u0627\u0644\u0645\u0633\u062A\u0642\u0644\u0628\u0627\u062A \u064A\u0624\u062F\u064A \u0625\u0644\u0649 \u062A\u0646\u0643\u0651\u0633 \u0645\u062A\u0631\u0642\u064A \u0641\u064A \u0627\u0644\u062C\u0647\u0627\u0632 \u0627\u0644\u0639\u0635\u0628\u064A \u0627\u0644\u0645\u0631\u0643\u0632\u064A \u0648\u0627\u0644\u0645\u0648\u062A \u0628\u0627\u0644\u0646\u0647\u0627\u064A\u0629. \u064A\u0635\u0639\u0628 \u062A\u0645\u064A\u064A\u0632 \u0647\u0630\u0627 \u0627\u0644\u062A\u0646\u0643\u0633 \u0627\u0644\u0639\u0635\u0628\u064A \u0627\u0644\u062A\u0642\u0647\u0642\u0631\u064A \u0627\u0644\u0645\u062A\u0639\u0644\u0642 \u0628\u0627\u0644\u0635\u0628\u063A\u064A\u0627\u062A \u0633\u0631\u064A\u0631\u064A\u064B\u0627 \u0639\u0646 \u062F\u0627\u0621 \u062A\u0627\u064A \u2013 \u0633\u0627\u0643\u0633\u060C \u0648\u0647\u0648 \u0627\u0636\u0637\u0631\u0627\u0628 \u0648\u0631\u0627\u062B\u064A \u0622\u062E\u0631 \u064A\u062D\u0635\u0644 \u0641\u064A\u0647 \u062E\u0644\u0644 \u0641\u064A \u0628\u064A\u062A\u0627 \u2013 \u0647\u064A\u0633\u0643\u0648\u0632\u0623\u0645\u064A\u062F\u064A\u0646 \u0625\u064A\u0647 \u0648\u0625\u0633. \u0647\u0646\u0627\u0643 \u062B\u0644\u0627\u062B \u062A\u062D\u062A \u0635\u0641\u0648\u0641 \u0644\u0647\u0630\u0627 \u0627\u0644\u062F\u0627\u0621 \u062A\u064F\u0635\u0646\u0641 \u0639\u0644\u0649 \u0623\u0633\u0627\u0633 \u0627\u0644\u0639\u0645\u0631 \u0627\u0644\u0630\u064A \u0628\u062F\u0623\u062A \u0628\u0647 \u0627\u0644\u0623\u0639\u0631\u0627\u0636: \u0627\u0644\u0634\u0643\u0644 \u0627\u0644\u062A\u0642\u0644\u064A\u062F\u064A \u0627\u0644\u0630\u064A \u064A\u0635\u064A\u0628 \u0627\u0644\u0623\u0637\u0641\u0627\u0644 \u0648\u0627\u0644\u0634\u0643\u0644 \u0627\u0644\u0630\u064A \u064A\u0635\u064A\u0628 \u0627\u0644\u0645\u0631\u0627\u0647\u0642\u064A\u0646 \u0648\u0627\u0644\u0634\u0643\u0644 \u0627\u0644\u0645\u062A\u0623\u062E\u0631 \u0627\u0644\u0638\u0647\u0648\u0631 \u0639\u0646\u062F \u0627\u0644\u0628\u0627\u0644\u063A\u064A\u0646."@ar . . . "D012497" . . . . . "29469"^^ . . . "\u0421\u0438\u043D\u0434\u0440\u043E\u043C \u0421\u0430\u043D\u0434\u0445\u043E\u0444\u0444\u0430 (\u0431\u043E\u043B\u0435\u0437\u043D\u044C \u0421\u0430\u043D\u0434\u0445\u043E\u0444\u0444\u0430) \u2014 \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, \u0432\u0430\u0440\u0438\u0430\u043D\u0442 0 GM2-\u0433\u0430\u043D\u0433\u043B\u0438\u043E\u0437\u0438\u0434\u043E\u0437\u0430 \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 \u2014 \u043D\u0430\u0440\u0443\u0448\u0435\u043D\u0438\u0435 \u043B\u0438\u043F\u0438\u0434\u043D\u043E\u0433\u043E \u043E\u0431\u043C\u0435\u043D\u0430, \u0432\u044B\u0437\u0432\u0430\u043D\u043D\u043E\u0435 \u043D\u0430\u0441\u043B\u0435\u0434\u0441\u0442\u0432\u0435\u043D\u043D\u044B\u043C \u0434\u0435\u0444\u0438\u0446\u0438\u0442\u043E\u043C (\u043D\u0435\u0434\u043E\u0441\u0442\u0430\u0442\u043E\u0447\u043D\u043E\u0441\u0442\u044C\u044E) \u0444\u0435\u0440\u043C\u0435\u043D\u0442\u043E\u0432 \u0431\u0435\u0442\u0430-\u0433\u0435\u043A\u0441\u043E\u0437\u0430\u043C\u0438\u043D\u0438\u0434\u0430\u0437\u044B \u0410 \u0438 \u0411."@ru . . . . . . . . . . . . ""@en . . . . "Sandhoff disease is inherited via an autosomal recessive manner."@en . . . . . . . . . . . . "Sandhoff disease"@en . . . . . . . . . "2525541"^^ . . . . . . . . . . "330.1"^^ . . . . "1092208598"^^ . . . . . . . "Sandhoff\u2013Jatzkewitz disease, variant 0 of GM2-gangliosidosis or hexosaminidase A and B deficiency"@en . "\u0421\u0438\u043D\u0434\u0440\u043E\u043C \u0421\u0430\u043D\u0434\u0445\u043E\u0444\u0444\u0430"@ru . . .