. . . "277.5" . . . "ped"@en . . . "La sindrome di Maroteaux-Lamy \u00E8 una forma di mucopolisaccaridosi, una malattia metabolica, autosomica recessiva, che fa parte dell'eterogeneo gruppo delle malattie da accumulo lisosomiale."@it . "Maroteaux\u2013Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides). In particular, ARSB breaks down dermatan sulfate and chondroitin sulfate. Because people with MPS-VI lack the ability to break down these GAGs, these chemicals build up in the lysosomes of cells. MPS-VI is therefore a type of lysosomal storage disease."@en . . . . . . "Maroteaux-Lamy-Syndrom"@de . "D009087" . ""@en . . . "Maroteaux\u2013Lamy syndrome"@en . . "Maroteaux\u2013Lamy syndrome"@en . . . "1373"^^ . "S\u00EDndrome de Maroteaux-Lamy"@ca . . . . . . . "A 16-year old boy with rapidly progressing MPS-VI, showing characteristic facial features and spinal deformities"@en . . . . . "\u0421\u0438\u043D\u0434\u0440\u043E\u043C \u041C\u0430\u0440\u043E\u0442\u043E \u2014 \u041B\u0430\u043C\u0438"@ru . . . "A picnodisostose (descrita por Maroteaux-Lamy) \u00E9 uma doen\u00E7a gen\u00E9tica rara. Trata-se de uma displasia esquel\u00E9tica. \u00C9 uma forma autoss\u00F4mica recessiva de nanismo. \u00C9 caracterizada por: \n* \n* deformidades no cr\u00E2nio e na face \n* baixa estatura \n*"@pt . . . "E76.2"@en . . "Reduced life expectancy"@en . . "\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0645\u0627\u0631\u0648\u062A\u0648 \u0644\u0627\u0645\u064A"@ar . . . . . "Das Maroteaux-Lamy-Syndrom bezeichnet eine angeborene, zu den Stoffwechselst\u00F6rungen geh\u00F6rige Lysosomale Speicherkrankheit, bei der es zu einer Speicherung von Dermatinsulfat kommt. Synonyme sind: Mukopolysaccharidose Typ VI; MPS6; MPSVI; Arylsulfatase B- Mangel; ARSB-Mangel; ASB-Mangel; N-Acetylgalactosamin 4-Sulfatase-Mangel; Maroteaux-Lamy-Krankheit Der Erstbeschrieb erfolgte im Jahre 1963 durch die Pariser Kinder\u00E4rzte und Humangenetiker Pierre Maroteaux (* 1926) und (1895\u20131975). Die Erkrankung ist nicht zu verwechseln mit der heredit\u00E4ren idiopathischen Osteolyse Typ I Lamy-Maroteaux."@de . . . "277.5"^^ . "A picnodisostose (descrita por Maroteaux-Lamy) \u00E9 uma doen\u00E7a gen\u00E9tica rara. Trata-se de uma displasia esquel\u00E9tica. \u00C9 uma forma autoss\u00F4mica recessiva de nanismo. \u00C9 caracterizada por: \n* \n* deformidades no cr\u00E2nio e na face \n* baixa estatura \n*"@pt . . . . . . "La s\u00EDndrome de Maroteaux-Lamy o mucopolisacaridosi tipus VI (MPS VI),tamb\u00E9 coneguda com a nanisme polidistr\u00F2fic, \u00E9s una mucopolisacaridosi autos\u00F2mica recessiva causada per una defici\u00E8ncia de l'enzim arilsulfatasa B, responsable de la degradaci\u00F3 de glicosaminoglicans als lisosomes. Per tant, la MPS VI \u00E9s una malaltia cong\u00E8nita que pertany al grup de les mucopolisacaridosis (MPS) i de les tesaurismosis (malalties d'acumulaci\u00F3 lisosomal). Rep el seu nom del Dr. Pierre Maroteaux (1926-) i el seu mestre, el Dr. Maurice Emil Joseph Lamy (1895-1975), tots dos metges francesos."@ca . . . "La mucopolisacaridosis tipo VI, tambi\u00E9n conocido como s\u00EDndrome de Maroteaux-Lamy es una rara enfermedad cong\u00E9nita del grupo de las mucopolisacaridosis. Est\u00E1 causada por deficiencia de la enzima arilsulfatasa B y produce trastornos \u00F3seos m\u00FAltiples, talla baja y defectos de visi\u00F3n por opacidad de la c\u00F3rnea. El desarrollo intelectual es normal. Se incluye en el grupo de enfermedades conocidas como tesaurismosis (enfermedades por dep\u00F3sito).\u200B"@es . . . . . "Patients are affected at birth; symptoms usually appear during early childhood"@en . . . . . "Other mucopolysaccharidosis disorders"@en . . . . . . . . . . "Picnodisostose"@pt . . "Maroteaux\u2013Lamy syndrome"@en . . "6701888"^^ . . "La maladie de Maroteaux-Lamy, ou mucopolysaccharidose de type VI (MPS-VI), est une maladie lysosomale, d\u00E9crite en 1963 par deux m\u00E9decins fran\u00E7ais."@fr . . "\u0421\u0438\u043D\u0434\u0440\u043E\u043C \u041C\u0430\u0440\u043E\u0442\u043E \u2014 \u041B\u0430\u043C\u0438 (\u043C\u0443\u043A\u043E\u043F\u043E\u043B\u0438\u0441\u0430\u0445\u0430\u0440\u0438\u0434\u043E\u0437 VI \u0442\u0438\u043F\u0430, \u0430\u043D\u0433\u043B. MPS VI) \u2014 \u0440\u0435\u0434\u043A\u0430\u044F \u043D\u0430\u0441\u043B\u0435\u0434\u0441\u0442\u0432\u0435\u043D\u043D\u0430\u044F \u0431\u043E\u043B\u0435\u0437\u043D\u044C, \u043E\u0434\u043D\u0430 \u0438\u0437 \u0444\u043E\u0440\u043C \u043C\u0443\u043A\u043E\u043F\u043E\u043B\u0438\u0441\u0430\u0445\u0430\u0440\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, \u0431\u0438\u043E\u0445\u0438\u043C\u0438\u0447\u0435\u0441\u043A\u0438 \u0441\u0432\u044F\u0437\u0430\u043D\u043D\u0430\u044F \u0441 \u0434\u0435\u0444\u0438\u0446\u0438\u0442\u043E\u043C \u0444\u0435\u0440\u043C\u0435\u043D\u0442\u0430 \u043B\u0438\u0437\u043E\u0441\u043E\u043C N-\u0410\u0446\u0435\u0442\u0438\u043B\u0433\u0435\u043A\u0441\u043E\u0437\u0430\u043C\u0438\u043D-4-\u0441\u0443\u043B\u044C\u0444\u0430\u0442\u0441\u0443\u043B\u044C\u0444\u0430\u0442\u0430\u0437\u044B (\u0430\u0440\u0438\u043B\u0441\u0443\u043B\u044C\u0444\u0430\u0442\u0430\u0437\u044B \u0411, \u0430\u043D\u0433\u043B. arylsulfatase B, ARSB)."@ru . . . "Sindrome di Maroteaux-Lamy"@it . . . . . . "La maladie de Maroteaux-Lamy, ou mucopolysaccharidose de type VI (MPS-VI), est une maladie lysosomale, d\u00E9crite en 1963 par deux m\u00E9decins fran\u00E7ais."@fr . . . "Variable. May include: Macrocephaly, Hydrocephalus, Coarse facial features, Heart valve disease, Enlarged liver and spleen, Umbilical hernia"@en . "ddb29179"@en . "Mutations in the ASRB gene"@en . "Mucopolysaccharidosis type VI, MPS VI, or Polydystrophic dwarfism"@en . "D009087"@en . "ddb29179" . . "\u0421\u0438\u043D\u0434\u0440\u043E\u043C \u041C\u0430\u0440\u043E\u0442\u043E \u2014 \u041B\u0430\u043C\u0438 (\u043C\u0443\u043A\u043E\u043F\u043E\u043B\u0438\u0441\u0430\u0445\u0430\u0440\u0438\u0434\u043E\u0437 VI \u0442\u0438\u043F\u0430, \u0430\u043D\u0433\u043B. MPS VI) \u2014 \u0440\u0435\u0434\u043A\u0430\u044F \u043D\u0430\u0441\u043B\u0435\u0434\u0441\u0442\u0432\u0435\u043D\u043D\u0430\u044F \u0431\u043E\u043B\u0435\u0437\u043D\u044C, \u043E\u0434\u043D\u0430 \u0438\u0437 \u0444\u043E\u0440\u043C \u043C\u0443\u043A\u043E\u043F\u043E\u043B\u0438\u0441\u0430\u0445\u0430\u0440\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, \u0431\u0438\u043E\u0445\u0438\u043C\u0438\u0447\u0435\u0441\u043A\u0438 \u0441\u0432\u044F\u0437\u0430\u043D\u043D\u0430\u044F \u0441 \u0434\u0435\u0444\u0438\u0446\u0438\u0442\u043E\u043C \u0444\u0435\u0440\u043C\u0435\u043D\u0442\u0430 \u043B\u0438\u0437\u043E\u0441\u043E\u043C N-\u0410\u0446\u0435\u0442\u0438\u043B\u0433\u0435\u043A\u0441\u043E\u0437\u0430\u043C\u0438\u043D-4-\u0441\u0443\u043B\u044C\u0444\u0430\u0442\u0441\u0443\u043B\u044C\u0444\u0430\u0442\u0430\u0437\u044B (\u0430\u0440\u0438\u043B\u0441\u0443\u043B\u044C\u0444\u0430\u0442\u0430\u0437\u044B \u0411, \u0430\u043D\u0433\u043B. arylsulfatase B, ARSB)."@ru . "\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0645\u0627\u0631\u0648\u062A\u0648 \u0644\u0627\u0645\u064A \u0648\u062A\u0643\u0646\u0628 \u0643\u0630\u0644\u0643 \u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0645\u0627\u0631\u0648\u062A\u0648-\u0644\u0627\u0645\u064A\u060C (\u0628\u0627\u0644\u0625\u0646\u062C\u0644\u064A\u0632\u064A\u0629:Maroteaux\u2013Lamy syndrome) \u0648\u0647\u0648 \u0627\u0636\u0637\u0631\u0627\u0628 \u064A\u0635\u064A\u0628 \u0627\u0644\u0623\u0637\u0641\u0627\u0644 \u0646\u062A\u064A\u062C\u0629 \u0646\u0642\u0635 \u0627\u0646\u0632\u064A\u0645 \u0633\u0644\u0641\u0627\u062A\u0627\u0632\u060C \u0645\u0645\u0627 \u064A\u0624\u062F\u064A \u0625\u0644\u0649 \u0627\u062E\u062A\u0644\u0627\u0644\u0627\u062A \u0639\u0635\u0628\u064A\u0629 \u062A\u0634\u0645\u0644: \n* \u0623\u0644\u0645 \u0646\u0627\u062C\u0645 \u0639\u0646 \u0635\u062F\u0645\u0629 \u0623\u0648 \u0636\u063A\u0637 \u0627\u0644\u0623\u0639\u0635\u0627\u0628 \u0648\u0627\u0644\u062C\u0630\u0648\u0631 \u0627\u0644\u0639\u0635\u0628\u064A\u0629 \n* \u0633\u0645\u0627\u0643\u0629 \u0627\u0644\u063A\u0634\u0627\u0621 \u0627\u0644\u0630\u064A \u064A\u062D\u064A\u0637 \u0648\u064A\u062D\u0645\u064A \u0627\u0644\u062F\u0645\u0627\u063A \u0648\u0627\u0644\u062D\u0628\u0644 \u0627\u0644\u0634\u0648\u0643\u064A \n* \u0627\u0644\u0635\u0645\u0645 \u0648\u062A\u0639\u062A\u064A\u0645 \u0627\u0644\u0642\u0631\u0646\u064A\u0629 \n* \u062A\u0648\u0642\u0641 \u0627\u0644\u0646\u0645\u0648 \u0639\u0646\u062F \u0627\u0644\u0648\u0635\u0648\u0644 \u0644\u0633\u0646 \u0627\u0644\u062B\u0627\u0645\u0646\u0629 \n* \u0645\u062D\u062F\u0648\u062F\u064A\u0629 \u062D\u0631\u0643\u0629 \u0627\u0644\u0645\u0641\u0627\u0635\u0644 \n* \u0627\u0644\u062C\u0630\u0639 \u0627\u0644\u0642\u0635\u064A\u0631 \u0648\u062C\u0644\u0648\u0633 \u0627\u0644\u0642\u0631\u0641\u0635\u0627\u0621 \n* \u062A\u0642\u0648\u0633 \u0627\u0644\u0639\u0645\u0648\u062F \u0627\u0644\u0641\u0642\u0631\u064A \n* \u0628\u0631\u0648\u0632 \u0627\u0644\u0628\u0637\u0646 \u0648\u0627\u0644\u0625\u0635\u0627\u0628\u0629 \u0628\u0627\u0644\u0641\u062A\u0642 \u0627\u0644\u0633\u0631\u064A \n* \u0623\u0645\u0631\u0627\u0636 \u0627\u0644\u0642\u0644\u0628 \u062A\u0645 \u062A\u0639\u064A\u064A\u0646 \u0627\u0633\u0645 \u0627\u0644\u0645\u0631\u0636 \u0639\u0644\u0645\u064A\u0627 \u0645\u0646 \u0642\u0628\u0644 \u0627\u0644\u0637\u0628\u064A\u0628\u064A\u0646 \u0627\u0644\u0641\u0631\u0646\u0633\u064A\u064A\u0646 \u0628\u064A\u064A\u0631 \u0645\u0627\u0631\u0648\u062A\u0648\u060C \u0648\u0645\u0639\u0644\u0645\u0647 \u0645\u0648\u0631\u064A\u0633 \u0625\u0645\u064A\u0644 \u062C\u0648\u0632\u064A\u0641 \u0644\u0627\u0645\u064A (1895-1975)"@ar . . . . . "La mucopolisacaridosis tipo VI, tambi\u00E9n conocido como s\u00EDndrome de Maroteaux-Lamy es una rara enfermedad cong\u00E9nita del grupo de las mucopolisacaridosis. Est\u00E1 causada por deficiencia de la enzima arilsulfatasa B y produce trastornos \u00F3seos m\u00FAltiples, talla baja y defectos de visi\u00F3n por opacidad de la c\u00F3rnea. El desarrollo intelectual es normal. Se incluye en el grupo de enfermedades conocidas como tesaurismosis (enfermedades por dep\u00F3sito).\u200B"@es . . "Maladie de Maroteaux-Lamy"@fr . . . . . . . "ped"@en . "La s\u00EDndrome de Maroteaux-Lamy o mucopolisacaridosi tipus VI (MPS VI),tamb\u00E9 coneguda com a nanisme polidistr\u00F2fic, \u00E9s una mucopolisacaridosi autos\u00F2mica recessiva causada per una defici\u00E8ncia de l'enzim arilsulfatasa B, responsable de la degradaci\u00F3 de glicosaminoglicans als lisosomes. Per tant, la MPS VI \u00E9s una malaltia cong\u00E8nita que pertany al grup de les mucopolisacaridosis (MPS) i de les tesaurismosis (malalties d'acumulaci\u00F3 lisosomal). Rep el seu nom del Dr. Pierre Maroteaux (1926-) i el seu mestre, el Dr. Maurice Emil Joseph Lamy (1895-1975), tots dos metges francesos."@ca . "\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0645\u0627\u0631\u0648\u062A\u0648 \u0644\u0627\u0645\u064A \u0648\u062A\u0643\u0646\u0628 \u0643\u0630\u0644\u0643 \u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0645\u0627\u0631\u0648\u062A\u0648-\u0644\u0627\u0645\u064A\u060C (\u0628\u0627\u0644\u0625\u0646\u062C\u0644\u064A\u0632\u064A\u0629:Maroteaux\u2013Lamy syndrome) \u0648\u0647\u0648 \u0627\u0636\u0637\u0631\u0627\u0628 \u064A\u0635\u064A\u0628 \u0627\u0644\u0623\u0637\u0641\u0627\u0644 \u0646\u062A\u064A\u062C\u0629 \u0646\u0642\u0635 \u0627\u0646\u0632\u064A\u0645 \u0633\u0644\u0641\u0627\u062A\u0627\u0632\u060C \u0645\u0645\u0627 \u064A\u0624\u062F\u064A \u0625\u0644\u0649 \u0627\u062E\u062A\u0644\u0627\u0644\u0627\u062A \u0639\u0635\u0628\u064A\u0629 \u062A\u0634\u0645\u0644: \n* \u0623\u0644\u0645 \u0646\u0627\u062C\u0645 \u0639\u0646 \u0635\u062F\u0645\u0629 \u0623\u0648 \u0636\u063A\u0637 \u0627\u0644\u0623\u0639\u0635\u0627\u0628 \u0648\u0627\u0644\u062C\u0630\u0648\u0631 \u0627\u0644\u0639\u0635\u0628\u064A\u0629 \n* \u0633\u0645\u0627\u0643\u0629 \u0627\u0644\u063A\u0634\u0627\u0621 \u0627\u0644\u0630\u064A \u064A\u062D\u064A\u0637 \u0648\u064A\u062D\u0645\u064A \u0627\u0644\u062F\u0645\u0627\u063A \u0648\u0627\u0644\u062D\u0628\u0644 \u0627\u0644\u0634\u0648\u0643\u064A \n* \u0627\u0644\u0635\u0645\u0645 \u0648\u062A\u0639\u062A\u064A\u0645 \u0627\u0644\u0642\u0631\u0646\u064A\u0629 \n* \u062A\u0648\u0642\u0641 \u0627\u0644\u0646\u0645\u0648 \u0639\u0646\u062F \u0627\u0644\u0648\u0635\u0648\u0644 \u0644\u0633\u0646 \u0627\u0644\u062B\u0627\u0645\u0646\u0629 \n* \u0645\u062D\u062F\u0648\u062F\u064A\u0629 \u062D\u0631\u0643\u0629 \u0627\u0644\u0645\u0641\u0627\u0635\u0644 \n* \u0627\u0644\u062C\u0630\u0639 \u0627\u0644\u0642\u0635\u064A\u0631 \u0648\u062C\u0644\u0648\u0633 \u0627\u0644\u0642\u0631\u0641\u0635\u0627\u0621 \n* \u062A\u0642\u0648\u0633 \u0627\u0644\u0639\u0645\u0648\u062F \u0627\u0644\u0641\u0642\u0631\u064A \n* \u0628\u0631\u0648\u0632 \u0627\u0644\u0628\u0637\u0646 \u0648\u0627\u0644\u0625\u0635\u0627\u0628\u0629 \u0628\u0627\u0644\u0641\u062A\u0642 \u0627\u0644\u0633\u0631\u064A \n* \u0623\u0645\u0631\u0627\u0636 \u0627\u0644\u0642\u0644\u0628 \u062A\u0645 \u062A\u0639\u064A\u064A\u0646 \u0627\u0633\u0645 \u0627\u0644\u0645\u0631\u0636 \u0639\u0644\u0645\u064A\u0627 \u0645\u0646 \u0642\u0628\u0644 \u0627\u0644\u0637\u0628\u064A\u0628\u064A\u0646 \u0627\u0644\u0641\u0631\u0646\u0633\u064A\u064A\u0646 \u0628\u064A\u064A\u0631 \u0645\u0627\u0631\u0648\u062A\u0648\u060C \u0648\u0645\u0639\u0644\u0645\u0647 \u0645\u0648\u0631\u064A\u0633 \u0625\u0645\u064A\u0644 \u062C\u0648\u0632\u064A\u0641 \u0644\u0627\u0645\u064A (1895-1975)"@ar . . . . "Mucopolisacaridosis tipo VI"@es . "253200"^^ . . . . . . "Das Maroteaux-Lamy-Syndrom bezeichnet eine angeborene, zu den Stoffwechselst\u00F6rungen geh\u00F6rige Lysosomale Speicherkrankheit, bei der es zu einer Speicherung von Dermatinsulfat kommt. Synonyme sind: Mukopolysaccharidose Typ VI; MPS6; MPSVI; Arylsulfatase B- Mangel; ARSB-Mangel; ASB-Mangel; N-Acetylgalactosamin 4-Sulfatase-Mangel; Maroteaux-Lamy-Krankheit Der Erstbeschrieb erfolgte im Jahre 1963 durch die Pariser Kinder\u00E4rzte und Humangenetiker Pierre Maroteaux (* 1926) und (1895\u20131975). Die Erkrankung ist nicht zu verwechseln mit der heredit\u00E4ren idiopathischen Osteolyse Typ I Lamy-Maroteaux."@de . . . "11633"^^ . . . . . "Zesp\u00F3\u0142 Maroteaux-Lamy\u2019ego"@pl . . "253200"^^ . . . "1118544023"^^ . . . "La sindrome di Maroteaux-Lamy \u00E8 una forma di mucopolisaccaridosi, una malattia metabolica, autosomica recessiva, che fa parte dell'eterogeneo gruppo delle malattie da accumulo lisosomiale."@it . . . . . "Zesp\u00F3\u0142 Maroteaux-Lamy\u2019ego (\u0142ac. syndroma Maroteaux-Lamy, ang. Maroteaux-Lamy syndrome) \u2013 mukopolisacharydoza typu VI, genetycznie uwarunkowana choroba metaboliczna, dziedziczona autosomalnie recesywnie. Charakteryzuje si\u0119 niedoborem wzrostu, pogrubia\u0142ymi rysami twarzy, wadami zastawek serca, zm\u0119tnieniem rog\u00F3wki, ograniczeniem ruchomo\u015Bci w stawach bez objaw\u00F3w niepe\u0142nosprawno\u015Bci intelektualnej."@pl . "Lifelong"@en . "Maroteaux\u2013Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides). In particular, ARSB breaks down dermatan sulfate and chondroitin sulfate. Because people with MPS-VI lack the ability to break down these GAGs, these chemicals build up in the lysosomes of cells. MPS-VI is therefore a type of lysosomal storage disease."@en . . . . . . . . . . "1373"@en . "E76.2" . . . . . . . . . . . . . . "Zesp\u00F3\u0142 Maroteaux-Lamy\u2019ego (\u0142ac. syndroma Maroteaux-Lamy, ang. Maroteaux-Lamy syndrome) \u2013 mukopolisacharydoza typu VI, genetycznie uwarunkowana choroba metaboliczna, dziedziczona autosomalnie recesywnie. Charakteryzuje si\u0119 niedoborem wzrostu, pogrubia\u0142ymi rysami twarzy, wadami zastawek serca, zm\u0119tnieniem rog\u00F3wki, ograniczeniem ruchomo\u015Bci w stawach bez objaw\u00F3w niepe\u0142nosprawno\u015Bci intelektualnej."@pl .