EPILEPSIYA VA HARAKAT BUZILISHLARI BILAN NAMOYON BO‘LGAN KOMBINATSIYALANGAN MALON VA METILMALON ATSIDURIYA: QARINDOSHLIK NIKOHDAN TUG‘ILGAN BOLA KLINIK HOLATI
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kombinatsiyalangan malon va metilmalon atsiduriya, ACSF3, organik atsiduriyalar, epileptik ensefalopatiya, to‘liq ekzom sekvenirlash##article.abstract##
Kombinatsiyalangan malon va metilmalon atsiduriya (KMiMMA) ACSF3 geni mutatsiyalari bilan bog‘liq bo‘lgan kam uchraydigan irsiy metabolik kasallikdir. Kasallik psixomotor rivojlanishning kechikishi, epileptik tutqanoqlar va harakat buzilishlari bilan namoyon bo‘ladi. Maqolada yaqin qarindosh nikohdan tug‘ilgan 1,5 yoshli bolaning klinik holati keltirilgan. Ushbu klinik holat irsiy metabolik kasalliklarni aniqlashda kompleks tekshiruvlarning ahamiyatini ko‘rsatadi.
Maqsad: kombinatsiyalangan malon va metilmalon atsiduriyaning klinik holatini taqdim etish va zamonaviy diagnostika usullarining ahamiyatini ko‘rsatish.
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