LIZOSOMAL SAQLASH KASALLIKLARI LABARATOR DIAGNOSTIKASI

Authors

  • Avazova Dilshoda Boymurod qizi Author
  • Jurayeva Sojida Nurmamat qizi Author
  • Islom O‘rinboyev Rahimjon o‘g‘li Author

Keywords:

Kalit so‘zlar: lizosomal saqlash kasalliklari, laborator diagnostika, lizosomal fermentlar, fermentativ faollik, genetik tahlil, biomarkerlar, metabolik kasalliklar.

Abstract

Annotatsiya: Ushbu maqolada lizosomal saqlash kasalliklarining laborator diagnostikasi, ularning kelib chiqish sabablari va aniqlash usullari yoritilgan. Lizosomal fermentlar faoliyatining buzilishi natijasida hujayralarda turli metabolik moddalar to‘planishi va uning organizmga ta’siri ko‘rib chiqiladi. Kasalliklarni aniqlashda fermentativ faollikni tekshirish, molekulyar-genetik tahlil, biokimyoviy tekshiruvlar hamda biomarkerlarni aniqlash usullarining ahamiyati tahlil qilinadi. Zamonaviy laborator diagnostika usullaridan foydalanish kasalliklarni erta aniqlash, tashxisni tasdiqlash va davolash jarayonini to‘g‘ri tashkil etishda muhim o‘rin tutadi.

References

1. Piraud M., et al. Diagnostic methods for Lysosomal Storage Disease. Journal of Clinical Laboratory Analysis. 2019.

2. Yu C., et al. Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases. International Journal of Neonatal Screening. 2016.

3. Scott C.R., Elliott S., et al. Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 2022;24(4):769–783.

4. Darie-Ion M., et al. An update on multiplexed mass spectrometry-based lysosomal storage disease diagnosis. Mass Spectrometry Reviews. 2024;43(5):1135–1149.

Published

2026-09-23

How to Cite

Avazova Dilshoda Boymurod qizi, Jurayeva Sojida Nurmamat qizi, & Islom O‘rinboyev Rahimjon o‘g‘li. (2026). LIZOSOMAL SAQLASH KASALLIKLARI LABARATOR DIAGNOSTIKASI. Ta’lim Innovatsiyasi Va Integratsiyasi, 77(1), 347-350. https://modernedu-dv.org/index.php/tal/article/view/437