. "Glycogen storage disease type IV (GSD IV), or Andersen's Disease, is a form of glycogen storage disease, which is caused by an inborn error of metabolism. It is the result of a mutation in the GBE1 gene, which causes a defect in the glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen molecules accumulate in cells; most severely in cardiac and muscle cells. The severity of this disease varies on the amount of enzyme produced. GSD IV is autosomal recessive, which means each parent has a mutant copy of the gene, but show no symptoms of the disease. It affects 1 in 800,000 individuals worldwide, with 3% of all GSDs being type IV. The disease was described and studied first by Dorothy Hansine Andersen."@en . "Penyakit Anderson atau penyakit penyimpanan glikogen tipe IV adalah penyakit langka berupa defek pada enzim amilo-1:4,1:6-transglukosidase yang diwariskan secara genetik dengan sifat . Enzim transglukosidase ini merupakan mediator untuk sintesis glikogen. Pertama kali digambarkan oleh dokter DH Anderson pada tahun 1956. Penyakit ini seringnya terdiagnosis saat sudah terjadi kegagalan fungsi organ seperti gagal fungsi hati, kardiomiopati atau atrofi otot. Diagnosis penyakit ini ditegakkan dari riwayat keluhan penderita, pemeriksaan fisik, biopsi jaringan, pemeriksaan , tes iskemik lengan bawah, pemeriksaan kadar kreatina kinase, pemeriksaan urine, dan pengujian biokimiawi untuk aktivitas enzim."@in . "D006011"@en . "271"^^ . . "910"@en . . "La malattia da deposito di glicogeno, tipo 4, nota anche come malattia di Andersen, \u00E8 una forma di glicogenosi, un gruppo di malattie riguardanti l'accumulo del glicogeno nell'organismo, causata da un errore congenito del metabolismo. Tale condizione \u00E8 il risultato di una mutazione nel gene GBE1, che causa un difetto nell'enzima ramificato del glicogeno. Pertanto, il glicogeno non viene prodotto correttamente e le molecole di glicogeno anormali si accumulano nelle cellule; in particolare in quelle cardiache e muscolari. La gravit\u00E0 di questa malattia varia in base alla quantit\u00E0 dell'enzima prodotto. La malattia da glicogenosi di tipo IV \u00E8 a trasmissione autosomica recessiva, il che significa che ogni genitore ha una copia mutante del gene ma non mostra alcun sintomo della malattia. Colpisce 1 individuo su 800.000 in tutto il mondo, rappresentando il 3% di tutte le malattie da accumulo del glicogeno. Le manifestazioni cliniche sono: epatomegalia, cirrosi con ipertensione portale, ipotonia muscolare e morte nei primi 2-3 anni di vita. \u00C8 una patologia multi sistemica, quindi, il trapianto di fegato a lungo termine non \u00E8 ancora noto. Prende il nome dal medico statunitense Dorothy Hansine Andersen."@it . "La malattia da deposito di glicogeno, tipo 4, nota anche come malattia di Andersen, \u00E8 una forma di glicogenosi, un gruppo di malattie riguardanti l'accumulo del glicogeno nell'organismo, causata da un errore congenito del metabolismo. Tale condizione \u00E8 il risultato di una mutazione nel gene GBE1, che causa un difetto nell'enzima ramificato del glicogeno. Pertanto, il glicogeno non viene prodotto correttamente e le molecole di glicogeno anormali si accumulano nelle cellule; in particolare in quelle cardiache e muscolari. La gravit\u00E0 di questa malattia varia in base alla quantit\u00E0 dell'enzima prodotto. La malattia da glicogenosi di tipo IV \u00E8 a trasmissione autosomica recessiva, il che significa che ogni genitore ha una copia mutante del gene ma non mostra alcun sintomo della malattia. Colpisce"@it . . . . "med"@en . "Penyakit Anderson atau penyakit penyimpanan glikogen tipe IV adalah penyakit langka berupa defek pada enzim amilo-1:4,1:6-transglukosidase yang diwariskan secara genetik dengan sifat . Enzim transglukosidase ini merupakan mediator untuk sintesis glikogen. Pertama kali digambarkan oleh dokter DH Anderson pada tahun 1956. Penyakit ini seringnya terdiagnosis saat sudah terjadi kegagalan fungsi organ seperti gagal fungsi hati, kardiomiopati atau atrofi otot. Diagnosis penyakit ini ditegakkan dari riwayat keluhan penderita, pemeriksaan fisik, biopsi jaringan, pemeriksaan , tes iskemik lengan bawah, pemeriksaan kadar kreatina kinase, pemeriksaan urine, dan pengujian biokimiawi untuk aktivitas enzim. Penyakit ini tidak bisa disembuhkan, sehingga tidak ada pengobatan yang spesifik. Terapi diet dilakukan untuk meminimalisir kerusakan organ dan mengurangi keluhan. Untuk penyakit Anderson yang berat dan progresif, diindikasikan untuk melakukan transplantasi hati."@in . . . . "\u062F\u0627\u0621 \u0627\u062E\u062A\u0632\u0627\u0646 \u0627\u0644\u063A\u0644\u0627\u064A\u0643\u0648\u062C\u064A\u0646 \u0627\u0644\u0646\u0645\u0637 \u0627\u0644\u0631\u0627\u0628\u0639 \u0647\u0648 \u0634\u0643\u0644 \u0645\u0646 \u0623\u0634\u0643\u0627\u0644 \u062F\u0627\u0621 \u0627\u062E\u062A\u0632\u0627\u0646 \u0627\u0644\u063A\u0644\u0627\u064A\u0643\u0648\u062C\u064A\u0646\u060C \u064A\u0646\u062A\u062C \u0639\u0646 \u062E\u0644\u0644 \u062E\u0644\u0642\u064A \u0641\u064A \u0639\u0645\u0644\u064A\u0629 \u0627\u0644\u062A\u0645\u062B\u064A\u0644 \u0627\u0644\u063A\u0630\u0627\u0626\u064A\u060C \u0646\u062A\u064A\u062C\u0629 \u0637\u0641\u0631\u0629 \u0641\u064A \u0627\u0644\u0645\u0648\u0631\u062B\u0629 (\u062C\u064A \u0628\u064A \u0625\u064A 1)\u060C \u0645\u0627 \u064A\u0633\u0628\u0628 \u062E\u0644\u0644\u0627\u064B \u0641\u064A \u0625\u0646\u0632\u064A\u0645 \u062A\u0641\u0631\u0639 \u0627\u0644\u063A\u0644\u0627\u064A\u0643\u0648\u062C\u064A\u0646\u060C \u0625\u0630 \u0644\u0627 \u064A\u064F\u0635\u064E\u0651\u0646\u0639 \u0627\u0644\u063A\u0644\u0627\u064A\u0643\u0648\u062C\u064A\u0646 \u0628\u0634\u0643\u0644\u0647 \u0627\u0644\u0635\u062D\u064A\u062D\u060C \u0648\u062A\u062A\u0631\u0627\u0643\u0645 \u062C\u0632\u064A\u0626\u0627\u062A\u0647 \u063A\u064A\u0631 \u0627\u0644\u0637\u0628\u064A\u0639\u064A\u0629 \u0641\u064A \u0627\u0644\u062E\u0644\u0627\u064A\u0627\u060C \u0648\u0623\u0643\u062B\u0631 \u0647\u0630\u0647 \u0627\u0644\u062E\u0644\u0627\u064A\u0627 \u0625\u0635\u0627\u0628\u0629 \u0647\u064A \u062E\u0644\u0627\u064A\u0627 \u0627\u0644\u0642\u0644\u0628 \u0648\u0627\u0644\u0639\u0636\u0644\u0627\u062A. \u062A\u062E\u062A\u0644\u0641 \u0634\u062F\u0629 \u0647\u0630\u0627 \u0627\u0644\u0645\u0631\u0636 \u0628\u0627\u062E\u062A\u0644\u0627\u0641 \u0643\u0645\u064A\u0629 \u0627\u0644\u0625\u0646\u0632\u064A\u0645 \u0627\u0644\u0645\u0646\u062A\u062C. \u064A\u0639\u062A\u0628\u0631 \u062F\u0627\u0621 \u0627\u062E\u062A\u0632\u0627\u0646 \u0627\u0644\u063A\u0644\u0627\u064A\u0643\u0648\u062C\u064A\u0646 \u0645\u0646 \u0627\u0644\u0646\u0645\u0637 \u0627\u0644\u0631\u0627\u0628\u0639 \u0645\u0631\u0636 \u0648\u0631\u0627\u062B\u064A \u0645\u062A\u0646\u062D\u064A\u060C \u0645\u0627 \u064A\u0639\u0646\u064A \u0623\u0646 \u0643\u0644\u0627 \u0627\u0644\u0623\u0628\u0648\u064A\u0646 \u0644\u062F\u064A\u0647\u0645\u0627 \u0623\u0644\u064A\u0644 \u0645\u062A\u0646\u062D\u064A \u0645\u0646 \u0645\u0648\u0631\u062B\u0629 \u0627\u0644\u0645\u0631\u0636 \u0648\u0644\u0643\u0646 \u0644\u0627 \u062A\u0638\u0647\u0631 \u0639\u0644\u064A\u0647\u0645\u0627 \u0623\u0639\u0631\u0627\u0636 \u0627\u0644\u0645\u0631\u0636. \u064A\u0635\u064A\u0628 1 \u0645\u0646 800,000 \u0641\u0631\u062F \u0641\u064A \u062C\u0645\u064A\u0639 \u0623\u0646\u062D\u0627\u0621 \u0627\u0644\u0639\u0627\u0644\u0645\u060C \u06483\u066A \u0645\u0646 \u062C\u0645\u064A\u0639 \u0623\u062F\u0648\u0627\u0621 \u062A\u062E\u0632\u064A\u0646 \u0627\u0644\u063A\u0644\u0627\u064A\u0643\u0648\u062C\u064A\u0646."@ar . . . . . . . . . . . . . "NBK115333" . "NBK115333"@en . ""@en . "\u0425\u0432\u043E\u0440\u043E\u0431\u0430 \u0410\u043D\u0434\u0435\u0440\u0441\u0435\u043D \u2014 \u0433\u043B\u0456\u043A\u043E\u0433\u0435\u043D\u043E\u0437, \u0433\u0435\u043D\u0435\u0442\u0438\u0447\u043D\u0435 \u0443\u0440\u0430\u0436\u0435\u043D\u043D\u044F \u043F\u0435\u0447\u0456\u043D\u043A\u0438, \u044F\u043A\u0435 \u0441\u043F\u0440\u0438\u0447\u0438\u043D\u044E\u0454 \u0434\u0435\u0444\u0435\u043A\u0442 \u0444\u0435\u0440\u043C\u0435\u043D\u0442\u0443 \u0430\u043C\u0456\u043B\u043E-(1,4-1,6)-\u0442\u0440\u0430\u043D\u0441\u0433\u043B\u044E\u043A\u043E\u0437\u0456\u043B\u0430\u0437\u0438. \u0426\u0435\u0439 \u0444\u0435\u0440\u043C\u0435\u043D\u0442 \u043A\u0430\u0442\u0430\u043B\u0456\u0437\u0443\u0454 \u043F\u0435\u0440\u0435\u0442\u0432\u043E\u0440\u0435\u043D\u043D\u044F 1,4-\u0437\u0432'\u044F\u0437\u043A\u0456\u0432 \u0443 \u043C\u043E\u043B\u0435\u043A\u0443\u043B\u0456 \u0433\u043B\u0456\u043A\u043E\u0433\u0435\u043D\u0443 \u0432 1,6-\u0437\u0432'\u044F\u0437\u043A\u0443, \u0442\u043E\u0431\u0442\u043E \u043E\u0431\u0443\u043C\u043E\u0432\u043B\u044E\u0454 \u0440\u043E\u0437\u0433\u0430\u043B\u0443\u0436\u0435\u043D\u043D\u044F \u043C\u043E\u043B\u0435\u043A\u0443\u043B\u0438 \u043F\u043E\u043B\u0456\u0441\u0430\u0445\u0430\u0440\u0438\u0434\u0443. \u0417\u0430\u0445\u0432\u043E\u0440\u044E\u0432\u0430\u043D\u043D\u044F \u0441\u0443\u043F\u0440\u043E\u0432\u043E\u0434\u0436\u0443\u0454\u0442\u044C\u0441\u044F \u043D\u0430\u0434\u043B\u0438\u0448\u043A\u043E\u0432\u0438\u043C \u043D\u0430\u043A\u043E\u043F\u0438\u0447\u0435\u043D\u043D\u044F\u043C \u0433\u043B\u0456\u043A\u043E\u0433\u0435\u043D\u0443 \u0432 \u043F\u0435\u0447\u0456\u043D\u0446\u0456, \u0449\u043E \u043D\u0430\u0434\u0430\u043B\u0456 \u043F\u0440\u043E\u0433\u0440\u0435\u0441\u0443\u0454 \u0432 \u0446\u0438\u0440\u043E\u0437. \u041D\u0430\u0437\u0432\u0430\u043D\u0430 \u043D\u0430 \u0447\u0435\u0441\u0442\u044C \u0430\u043C\u0435\u0440\u0438\u043A\u0430\u043D\u0441\u044C\u043A\u043E\u0457 \u043B\u0456\u043A\u0430\u0440\u043A\u0438 \u0414\u043E\u0440\u043E\u0442\u0456 \u0410\u043D\u0434\u0435\u0440\u0441\u0435\u043D."@uk . . . "med"@en . . . "La malaltia d'Andersen o glicogenosi de tipus IV \u00E9s causada per la defici\u00E8ncia de l'enzim ramificant amilo a-1,4-1,6-glucotransferasa. Cl\u00EDnicament aquests pacients presenten, en el per\u00EDode de lact\u00E0ncia, hepatosplenomegalia progressiva, hipotonia molt intensa i atr\u00F2fia muscular, amb desenvolupament conseg\u00FCent de cirrosi hep\u00E0tica a causa de l'acumulaci\u00F3 de glucogen d'estructura anormal, sense ramificacions."@ca . "La enfermedad de Andersen es una enfermedad causada por alteraciones en el almacenamiento de gluc\u00F3geno tipo IV , que es causada por un error innato del metabolismo . Es el resultado de una mutaci\u00F3n en el gen GBE1 , que provoca un defecto en la enzima ramificadora del gluc\u00F3geno. Por lo tanto, el gluc\u00F3geno no se produce correctamente y las mol\u00E9culas de gluc\u00F3geno anormales se acumulan en las c\u00E9lulas; m\u00E1s gravemente en las c\u00E9lulas card\u00EDacas y musculares. La gravedad de esta enfermedad var\u00EDa seg\u00FAn la cantidad de enzima producida. La enfermedad por almacenamiento de gluc\u00F3geno tipo IV es autos\u00F3mica recesiva, lo que significa que cada padre tiene una copia mutante del gen, pero no muestra s\u00EDntomas de la enfermedad. Afecta a 1 de cada 800.000 personas en todo el mundo, y el 3% de todas las enfermed"@es . "\u0411\u043E\u043B\u0435\u0437\u043D\u044C \u0410\u043D\u0434\u0435\u0440\u0441\u0435\u043D \u2014 \u0433\u043B\u0438\u043A\u043E\u0433\u0435\u043D\u043E\u0437, \u0441\u0435\u043C\u0435\u0439\u043D\u044B\u0439 \u0446\u0438\u0440\u0440\u043E\u0437 \u043F\u0435\u0447\u0435\u043D\u0438, \u0432\u044B\u0437\u0432\u0430\u043D\u043D\u044B\u0439 \u0434\u0435\u0444\u0435\u043A\u0442\u043E\u043C \u0444\u0435\u0440\u043C\u0435\u043D\u0442\u0430 . \u042D\u0442\u043E\u0442 \u0444\u0435\u0440\u043C\u0435\u043D\u0442 \u043A\u0430\u0442\u0430\u043B\u0438\u0437\u0438\u0440\u0443\u0435\u0442 \u043F\u0440\u0435\u0432\u0440\u0430\u0449\u0435\u043D\u0438\u0435 1,4-\u0441\u0432\u044F\u0437\u0435\u0439 \u0432 \u043C\u043E\u043B\u0435\u043A\u0443\u043B\u0435 \u0433\u043B\u0438\u043A\u043E\u0433\u0435\u043D\u0430 \u0432 1,6-\u0441\u0432\u044F\u0437\u0438, \u0442\u043E \u0435\u0441\u0442\u044C \u043E\u0431\u0443\u0441\u043B\u0430\u0432\u043B\u0438\u0432\u0430\u0435\u0442 \u0432\u0435\u0442\u0432\u043B\u0435\u043D\u0438\u0435 \u043C\u043E\u043B\u0435\u043A\u0443\u043B\u044B \u043F\u043E\u043B\u0438\u0441\u0430\u0445\u0430\u0440\u0438\u0434\u0430. \u0417\u0430\u0431\u043E\u043B\u0435\u0432\u0430\u043D\u0438\u0435 \u0441\u043E\u043F\u0440\u043E\u0432\u043E\u0436\u0434\u0430\u0435\u0442\u0441\u044F \u0438\u0437\u0431\u044B\u0442\u043E\u0447\u043D\u044B\u043C \u043D\u0430\u043A\u043E\u043F\u043B\u0435\u043D\u0438\u0435\u043C \u0430\u0442\u0438\u043F\u0438\u0447\u043D\u043E\u0433\u043E \u0433\u043B\u0438\u043A\u043E\u0433\u0435\u043D\u0430 \u0432 \u043F\u0435\u0447\u0435\u043D\u0438. \u0411\u043E\u043B\u0435\u0437\u043D\u044C \u043D\u0430\u0437\u0432\u0430\u043D\u0430 \u0432 \u0447\u0435\u0441\u0442\u044C \u0430\u043C\u0435\u0440\u0438\u043A\u0430\u043D\u0441\u043A\u043E\u0433\u043E \u0432\u0440\u0430\u0447\u0430 \u2014 \u043F\u0430\u0442\u043E\u043B\u043E\u0433\u043E\u0430\u043D\u0430\u0442\u043E\u043C\u0430 \u0438 \u043F\u0435\u0434\u0438\u0430\u0442\u0440\u0430 (Dorothy Hansine Andersen, 1901\u20141963), \u043E\u043F\u0438\u0441\u0430\u0432\u0448\u0435\u0439 \u0435\u0435 \u0432 50-\u0435 \u0433\u043E\u0434\u044B XX \u0432\u0435\u043A\u0430."@ru . . "Der Morbus Andersen, oder Glykogenose Typ IV, Amylopektinose (Synonyme: Andersen-Syndrom, Andersen-Glykogenose, Andersen-Syndrom, auch Glycogen Branching Enzyme Deficiency (GBED)), ist eine autosomal-rezessiv vererbte Stoffwechselerkrankung und geh\u00F6rt zur Gruppe der Glykogenspeicherkrankheiten (Glykogenosen). Die Krankheit manifestiert sich innerhalb der ersten Lebensmonate und zeichnet sich durch eine St\u00F6rung der Glykogensynthese aus. Auf Stoffwechselebene zeigt sich ein Defekt des branching enzyme, der sogenannten Amylo-1,4-1,6-Transglukosidase, welches f\u00FCr die Seitverzweigung der Glykogenmolek\u00FCle verantwortlich ist. Folge ist in erster Linie eine rasch fortschreitende Leberzirrhose durch Akkumulation des abnormen Glykogens in Form Amylose-\u00E4hnlicher Strukturen in den Hepatozyten. Das ver"@de . "La enfermedad de Andersen es una enfermedad causada por alteraciones en el almacenamiento de gluc\u00F3geno tipo IV , que es causada por un error innato del metabolismo . Es el resultado de una mutaci\u00F3n en el gen GBE1 , que provoca un defecto en la enzima ramificadora del gluc\u00F3geno. Por lo tanto, el gluc\u00F3geno no se produce correctamente y las mol\u00E9culas de gluc\u00F3geno anormales se acumulan en las c\u00E9lulas; m\u00E1s gravemente en las c\u00E9lulas card\u00EDacas y musculares. La gravedad de esta enfermedad var\u00EDa seg\u00FAn la cantidad de enzima producida. La enfermedad por almacenamiento de gluc\u00F3geno tipo IV es autos\u00F3mica recesiva, lo que significa que cada padre tiene una copia mutante del gen, pero no muestra s\u00EDntomas de la enfermedad. Afecta a 1 de cada 800.000 personas en todo el mundo, y el 3% de todas las enfermedades por almacenamiento de gluc\u00F3geno son de tipo IV. Se caracteriza por el d\u00E9ficit de la enzima ramificante amilo (1.4-1.6) tranglucosilasa o glucan transferasa.\u200B Provoca hepatoesplenomegalia , acumulaci\u00F3n de polisac\u00E1ridos con pocos puntos de ramificaci\u00F3n. Se produce la muerte por insuficiencia cardiaca y hep\u00E1tica, es una enfermedad hederitaria y degenerativa.Consume \u00F3rganos como los ri\u00F1ones, h\u00EDgado y p\u00E1ncreas, consume los m\u00FAsculos de abajo hacia arriba. Posee gluc\u00F3geno anormal.D\u00E9ficit en tr\u00E1queas respiratorias."@es . . "Enfermedad de Andersen"@es . . "Morbus Andersen"@de . . . "5303"^^ . . "Choroba Andersen, glikogenoza typu IV, amylopektynoza \u2013 rzadka choroba genetyczna, dziedziczona autosomalnie recesywnie, polegaj\u0105ca na zaburzeniu spichrzania glikogenu. Choroba zosta\u0142a nazwana na cze\u015B\u0107 ameryka\u0144skiej lekarki, Dorothy Hansine Andersen."@pl . . . . "Glycogen storage disease type IV"@en . . "271.0" . . "5303" . . "\u0411\u043E\u043B\u0435\u0437\u043D\u044C \u0410\u043D\u0434\u0435\u0440\u0441\u0435\u043D"@ru . "Glycogen storage disease type IV (GSD IV), or Andersen's Disease, is a form of glycogen storage disease, which is caused by an inborn error of metabolism. It is the result of a mutation in the GBE1 gene, which causes a defect in the glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen molecules accumulate in cells; most severely in cardiac and muscle cells. The severity of this disease varies on the amount of enzyme produced. GSD IV is autosomal recessive, which means each parent has a mutant copy of the gene, but show no symptoms of the disease. It affects 1 in 800,000 individuals worldwide, with 3% of all GSDs being type IV. The disease was described and studied first by Dorothy Hansine Andersen."@en . . "\u0425\u0432\u043E\u0440\u043E\u0431\u0430 \u0410\u043D\u0434\u0435\u0440\u0441\u0435\u043D"@uk . . . "Malattia da deposito di glicogeno, tipo 4"@it . . . . "Glycogen storage disease type IV"@en . . "232500"^^ . . . "La malaltia d'Andersen o glicogenosi de tipus IV \u00E9s causada per la defici\u00E8ncia de l'enzim ramificant amilo a-1,4-1,6-glucotransferasa. Cl\u00EDnicament aquests pacients presenten, en el per\u00EDode de lact\u00E0ncia, hepatosplenomegalia progressiva, hipotonia molt intensa i atr\u00F2fia muscular, amb desenvolupament conseg\u00FCent de cirrosi hep\u00E0tica a causa de l'acumulaci\u00F3 de glucogen d'estructura anormal, sense ramificacions. Els pacients moren en el segon any de vida per insufici\u00E8ncia hep\u00E0tica i cardiopatia. El diagn\u00F2stic es basa en la demostraci\u00F3 del d\u00E8ficit enzim\u00E0tic en fibroblasts i hematies i en l'acumulaci\u00F3 de glicogen d'estructura an\u00F2mala en teixits. L'esperan\u00E7a de vida \u00E9s de dos anys i l'\u00FAnic tractament pal\u00B7liatiu \u00E9s, pel que sembla, el trasplantament hep\u00E0tic (efectuat en un sol pacient per\u00F2 amb resultats molt encoratjadors). El diagn\u00F2stic prenatal \u00E9s possible utilitzant diferents t\u00E8cniques."@ca . . "Choroba Andersen, glikogenoza typu IV, amylopektynoza \u2013 rzadka choroba genetyczna, dziedziczona autosomalnie recesywnie, polegaj\u0105ca na zaburzeniu spichrzania glikogenu. Choroba zosta\u0142a nazwana na cze\u015B\u0107 ameryka\u0144skiej lekarki, Dorothy Hansine Andersen."@pl . "232500"^^ . "8019"^^ . "E74.0" . . "\u062F\u0627\u0621 \u0627\u062E\u062A\u0632\u0627\u0646 \u0627\u0644\u063A\u0644\u0627\u064A\u0643\u0648\u062C\u064A\u0646 \u0627\u0644\u0646\u0645\u0637 \u0627\u0644\u0631\u0627\u0628\u0639 \u0647\u0648 \u0634\u0643\u0644 \u0645\u0646 \u0623\u0634\u0643\u0627\u0644 \u062F\u0627\u0621 \u0627\u062E\u062A\u0632\u0627\u0646 \u0627\u0644\u063A\u0644\u0627\u064A\u0643\u0648\u062C\u064A\u0646\u060C \u064A\u0646\u062A\u062C \u0639\u0646 \u062E\u0644\u0644 \u062E\u0644\u0642\u064A \u0641\u064A \u0639\u0645\u0644\u064A\u0629 \u0627\u0644\u062A\u0645\u062B\u064A\u0644 \u0627\u0644\u063A\u0630\u0627\u0626\u064A\u060C \u0646\u062A\u064A\u062C\u0629 \u0637\u0641\u0631\u0629 \u0641\u064A \u0627\u0644\u0645\u0648\u0631\u062B\u0629 (\u062C\u064A \u0628\u064A \u0625\u064A 1)\u060C \u0645\u0627 \u064A\u0633\u0628\u0628 \u062E\u0644\u0644\u0627\u064B \u0641\u064A \u0625\u0646\u0632\u064A\u0645 \u062A\u0641\u0631\u0639 \u0627\u0644\u063A\u0644\u0627\u064A\u0643\u0648\u062C\u064A\u0646\u060C \u0625\u0630 \u0644\u0627 \u064A\u064F\u0635\u064E\u0651\u0646\u0639 \u0627\u0644\u063A\u0644\u0627\u064A\u0643\u0648\u062C\u064A\u0646 \u0628\u0634\u0643\u0644\u0647 \u0627\u0644\u0635\u062D\u064A\u062D\u060C \u0648\u062A\u062A\u0631\u0627\u0643\u0645 \u062C\u0632\u064A\u0626\u0627\u062A\u0647 \u063A\u064A\u0631 \u0627\u0644\u0637\u0628\u064A\u0639\u064A\u0629 \u0641\u064A \u0627\u0644\u062E\u0644\u0627\u064A\u0627\u060C \u0648\u0623\u0643\u062B\u0631 \u0647\u0630\u0647 \u0627\u0644\u062E\u0644\u0627\u064A\u0627 \u0625\u0635\u0627\u0628\u0629 \u0647\u064A \u062E\u0644\u0627\u064A\u0627 \u0627\u0644\u0642\u0644\u0628 \u0648\u0627\u0644\u0639\u0636\u0644\u0627\u062A. \u062A\u062E\u062A\u0644\u0641 \u0634\u062F\u0629 \u0647\u0630\u0627 \u0627\u0644\u0645\u0631\u0636 \u0628\u0627\u062E\u062A\u0644\u0627\u0641 \u0643\u0645\u064A\u0629 \u0627\u0644\u0625\u0646\u0632\u064A\u0645 \u0627\u0644\u0645\u0646\u062A\u062C. \u064A\u0639\u062A\u0628\u0631 \u062F\u0627\u0621 \u0627\u062E\u062A\u0632\u0627\u0646 \u0627\u0644\u063A\u0644\u0627\u064A\u0643\u0648\u062C\u064A\u0646 \u0645\u0646 \u0627\u0644\u0646\u0645\u0637 \u0627\u0644\u0631\u0627\u0628\u0639 \u0645\u0631\u0636 \u0648\u0631\u0627\u062B\u064A \u0645\u062A\u0646\u062D\u064A\u060C \u0645\u0627 \u064A\u0639\u0646\u064A \u0623\u0646 \u0643\u0644\u0627 \u0627\u0644\u0623\u0628\u0648\u064A\u0646 \u0644\u062F\u064A\u0647\u0645\u0627 \u0623\u0644\u064A\u0644 \u0645\u062A\u0646\u062D\u064A \u0645\u0646 \u0645\u0648\u0631\u062B\u0629 \u0627\u0644\u0645\u0631\u0636 \u0648\u0644\u0643\u0646 \u0644\u0627 \u062A\u0638\u0647\u0631 \u0639\u0644\u064A\u0647\u0645\u0627 \u0623\u0639\u0631\u0627\u0636 \u0627\u0644\u0645\u0631\u0636. \u064A\u0635\u064A\u0628 1 \u0645\u0646 800,000 \u0641\u0631\u062F \u0641\u064A \u062C\u0645\u064A\u0639 \u0623\u0646\u062D\u0627\u0621 \u0627\u0644\u0639\u0627\u0644\u0645\u060C \u06483\u066A \u0645\u0646 \u062C\u0645\u064A\u0639 \u0623\u062F\u0648\u0627\u0621 \u062A\u062E\u0632\u064A\u0646 \u0627\u0644\u063A\u0644\u0627\u064A\u0643\u0648\u062C\u064A\u0646."@ar . . "D006011" . . "" . "Malaltia d'Andersen"@ca . . . . . . . "\u0425\u0432\u043E\u0440\u043E\u0431\u0430 \u0410\u043D\u0434\u0435\u0440\u0441\u0435\u043D \u2014 \u0433\u043B\u0456\u043A\u043E\u0433\u0435\u043D\u043E\u0437, \u0433\u0435\u043D\u0435\u0442\u0438\u0447\u043D\u0435 \u0443\u0440\u0430\u0436\u0435\u043D\u043D\u044F \u043F\u0435\u0447\u0456\u043D\u043A\u0438, \u044F\u043A\u0435 \u0441\u043F\u0440\u0438\u0447\u0438\u043D\u044E\u0454 \u0434\u0435\u0444\u0435\u043A\u0442 \u0444\u0435\u0440\u043C\u0435\u043D\u0442\u0443 \u0430\u043C\u0456\u043B\u043E-(1,4-1,6)-\u0442\u0440\u0430\u043D\u0441\u0433\u043B\u044E\u043A\u043E\u0437\u0456\u043B\u0430\u0437\u0438. \u0426\u0435\u0439 \u0444\u0435\u0440\u043C\u0435\u043D\u0442 \u043A\u0430\u0442\u0430\u043B\u0456\u0437\u0443\u0454 \u043F\u0435\u0440\u0435\u0442\u0432\u043E\u0440\u0435\u043D\u043D\u044F 1,4-\u0437\u0432'\u044F\u0437\u043A\u0456\u0432 \u0443 \u043C\u043E\u043B\u0435\u043A\u0443\u043B\u0456 \u0433\u043B\u0456\u043A\u043E\u0433\u0435\u043D\u0443 \u0432 1,6-\u0437\u0432'\u044F\u0437\u043A\u0443, \u0442\u043E\u0431\u0442\u043E \u043E\u0431\u0443\u043C\u043E\u0432\u043B\u044E\u0454 \u0440\u043E\u0437\u0433\u0430\u043B\u0443\u0436\u0435\u043D\u043D\u044F \u043C\u043E\u043B\u0435\u043A\u0443\u043B\u0438 \u043F\u043E\u043B\u0456\u0441\u0430\u0445\u0430\u0440\u0438\u0434\u0443. \u0417\u0430\u0445\u0432\u043E\u0440\u044E\u0432\u0430\u043D\u043D\u044F \u0441\u0443\u043F\u0440\u043E\u0432\u043E\u0434\u0436\u0443\u0454\u0442\u044C\u0441\u044F \u043D\u0430\u0434\u043B\u0438\u0448\u043A\u043E\u0432\u0438\u043C \u043D\u0430\u043A\u043E\u043F\u0438\u0447\u0435\u043D\u043D\u044F\u043C \u0433\u043B\u0456\u043A\u043E\u0433\u0435\u043D\u0443 \u0432 \u043F\u0435\u0447\u0456\u043D\u0446\u0456, \u0449\u043E \u043D\u0430\u0434\u0430\u043B\u0456 \u043F\u0440\u043E\u0433\u0440\u0435\u0441\u0443\u0454 \u0432 \u0446\u0438\u0440\u043E\u0437. \u041D\u0430\u0437\u0432\u0430\u043D\u0430 \u043D\u0430 \u0447\u0435\u0441\u0442\u044C \u0430\u043C\u0435\u0440\u0438\u043A\u0430\u043D\u0441\u044C\u043A\u043E\u0457 \u043B\u0456\u043A\u0430\u0440\u043A\u0438 \u0414\u043E\u0440\u043E\u0442\u0456 \u0410\u043D\u0434\u0435\u0440\u0441\u0435\u043D."@uk . "\u0411\u043E\u043B\u0435\u0437\u043D\u044C \u0410\u043D\u0434\u0435\u0440\u0441\u0435\u043D \u2014 \u0433\u043B\u0438\u043A\u043E\u0433\u0435\u043D\u043E\u0437, \u0441\u0435\u043C\u0435\u0439\u043D\u044B\u0439 \u0446\u0438\u0440\u0440\u043E\u0437 \u043F\u0435\u0447\u0435\u043D\u0438, \u0432\u044B\u0437\u0432\u0430\u043D\u043D\u044B\u0439 \u0434\u0435\u0444\u0435\u043A\u0442\u043E\u043C \u0444\u0435\u0440\u043C\u0435\u043D\u0442\u0430 . \u042D\u0442\u043E\u0442 \u0444\u0435\u0440\u043C\u0435\u043D\u0442 \u043A\u0430\u0442\u0430\u043B\u0438\u0437\u0438\u0440\u0443\u0435\u0442 \u043F\u0440\u0435\u0432\u0440\u0430\u0449\u0435\u043D\u0438\u0435 1,4-\u0441\u0432\u044F\u0437\u0435\u0439 \u0432 \u043C\u043E\u043B\u0435\u043A\u0443\u043B\u0435 \u0433\u043B\u0438\u043A\u043E\u0433\u0435\u043D\u0430 \u0432 1,6-\u0441\u0432\u044F\u0437\u0438, \u0442\u043E \u0435\u0441\u0442\u044C \u043E\u0431\u0443\u0441\u043B\u0430\u0432\u043B\u0438\u0432\u0430\u0435\u0442 \u0432\u0435\u0442\u0432\u043B\u0435\u043D\u0438\u0435 \u043C\u043E\u043B\u0435\u043A\u0443\u043B\u044B \u043F\u043E\u043B\u0438\u0441\u0430\u0445\u0430\u0440\u0438\u0434\u0430. \u0417\u0430\u0431\u043E\u043B\u0435\u0432\u0430\u043D\u0438\u0435 \u0441\u043E\u043F\u0440\u043E\u0432\u043E\u0436\u0434\u0430\u0435\u0442\u0441\u044F \u0438\u0437\u0431\u044B\u0442\u043E\u0447\u043D\u044B\u043C \u043D\u0430\u043A\u043E\u043F\u043B\u0435\u043D\u0438\u0435\u043C \u0430\u0442\u0438\u043F\u0438\u0447\u043D\u043E\u0433\u043E \u0433\u043B\u0438\u043A\u043E\u0433\u0435\u043D\u0430 \u0432 \u043F\u0435\u0447\u0435\u043D\u0438. \u0411\u043E\u043B\u0435\u0437\u043D\u044C \u043D\u0430\u0437\u0432\u0430\u043D\u0430 \u0432 \u0447\u0435\u0441\u0442\u044C \u0430\u043C\u0435\u0440\u0438\u043A\u0430\u043D\u0441\u043A\u043E\u0433\u043E \u0432\u0440\u0430\u0447\u0430 \u2014 \u043F\u0430\u0442\u043E\u043B\u043E\u0433\u043E\u0430\u043D\u0430\u0442\u043E\u043C\u0430 \u0438 \u043F\u0435\u0434\u0438\u0430\u0442\u0440\u0430 (Dorothy Hansine Andersen, 1901\u20141963), \u043E\u043F\u0438\u0441\u0430\u0432\u0448\u0435\u0439 \u0435\u0435 \u0432 50-\u0435 \u0433\u043E\u0434\u044B XX \u0432\u0435\u043A\u0430."@ru . . "910"^^ . "Glycogen storage disease type IV"@en . . . . . . "Choroba Andersen"@pl . "2975098"^^ . . "E74.0"@en . . . "\u062F\u0627\u0621 \u0627\u062E\u062A\u0632\u0627\u0646 \u0627\u0644\u063A\u0644\u0627\u064A\u0643\u0648\u062C\u064A\u0646 \u0627\u0644\u0646\u0645\u0637 \u0627\u0644\u0631\u0627\u0628\u0639"@ar . "" . . "Der Morbus Andersen, oder Glykogenose Typ IV, Amylopektinose (Synonyme: Andersen-Syndrom, Andersen-Glykogenose, Andersen-Syndrom, auch Glycogen Branching Enzyme Deficiency (GBED)), ist eine autosomal-rezessiv vererbte Stoffwechselerkrankung und geh\u00F6rt zur Gruppe der Glykogenspeicherkrankheiten (Glykogenosen). Die Krankheit manifestiert sich innerhalb der ersten Lebensmonate und zeichnet sich durch eine St\u00F6rung der Glykogensynthese aus. Auf Stoffwechselebene zeigt sich ein Defekt des branching enzyme, der sogenannten Amylo-1,4-1,6-Transglukosidase, welches f\u00FCr die Seitverzweigung der Glykogenmolek\u00FCle verantwortlich ist. Folge ist in erster Linie eine rasch fortschreitende Leberzirrhose durch Akkumulation des abnormen Glykogens in Form Amylose-\u00E4hnlicher Strukturen in den Hepatozyten. Das verantwortliche Gen (GBE1) konnte auf Chromosom (3p12) lokalisiert werden und codiert f\u00FCr das 1,4-\u03B1-Glucan-verzweigende Enzym. Die Erkrankung ist nicht zu verwechseln mit dem auch als \"Andersen-Syndrom\" bezeichneten Andersen-Tawil-Syndrom."@de . "Andersen's triad, Andersen\u2019s disease"@en . . . . . "Penyakit Anderson"@in . "Glycogen storage disease type IV"@en . . . . . . "1108047680"^^ . "Glycogen storage disease type IV"@en .