{"product_id":"neperenosimost-dibazovyh-proteinov-von-jelhem-zhbebli","title":"NEPERENOSIMOST' DIBAZOVYH PROTEINOV","description":"\u003cp\u003eNeperenosimost' dibazowyh belkow - redkoe nasledstwennoe zabolewanie, wyzwannoe defektom membrannogo transporta dibazowyh aminokislot. Ono wyzywaetsq mutaciej w gene SLC7A7. Jeto mul'tisistemnoe metabolicheskoe zabolewanie. Slozhnost' ego patofiziologii delaet ego trudnoizlechimym. Srednij wozrast nachala zabolewaniq - 9 mesqcew. Srednij wozrast postanowki diagnoza - 21 mesqc. Zaderzhka rosta (n=7) i gepatosplenomegaliq (n=6) byli pochti postoqnnymi priznakami zabolewaniq, za nimi sledowali otwraschenie k belku (n=5), blednost' (n=5) i newrologicheskie priznaki (n=4). Ammiak byl powyshen u 6 pacientow. Hromatografiq aminokislot podtwerdila diagnoz u dwuh pacientow. Molekulqrnaq biologiq wyqwila mutaciü del TTCT 1471 u 5 pacientow. Vsem pacientam byla naznachena nizkobelkowaq dieta i priem citrullina. Oslozhneniq zabolewaniq byli chastymi: zaderzhka rosta otmechalas' u wseh pacientow.\u003c\/p\u003e\u003cdiv class=\"aw-variant-hidden-subtitle-div\" id=\"aw-variant-subtitle-9786207699278\"\u003e\u003ch3\u003eGranica mezhdu metabolizmom i autoimmunitetom\u003c\/h3\u003e\u003c\/div\u003e","brand":"Autorenwelt Shop","offers":[{"title":"Softcover - 9786207699278","offer_id":49649147183429,"sku":"9786207699278","price":43.9,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0940\/0622\/files\/35d275a1-3c71-4c6e-8b92-ed76cb304993.jpg?v=1760849873","url":"https:\/\/shop.autorenwelt.de\/en\/products\/neperenosimost-dibazovyh-proteinov-von-jelhem-zhbebli","provider":"Autorenwelt Shop","version":"1.0","type":"link"}