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- W1929595838 abstract "New Approaches in Diagnosis and Treatment of Lysosomal Storage DiseasesInborn errors of metabolism is a general term that is applied to numerous genetic disorders whose pathology is usually attributable to excessive tissue stores or circulating concentrations of a specific undegradecl metabolite. Lysosomal storage diseases result from accumulation in Iysosomes of metabolites that whould normally be degraded by one of the many hydrolytic enzymes which reside in subcellular organelles. These specific enzyme deficiencies of lysosomal storage diseases have been identified by products stored in tissues. The nature of these storage products are identified to be sphingolipids and glycosaminoglycans.Dogumsal metabolizma bozukluklari spesifik bazi metabolitlerin dolasimdaki konsantrasyonlarinin ya da dokulardaki depo formlarinin artmasi ile karakterize. genetik hastaliklar icin kullanilan genel bir terimdir. Lizozomal depo hastaliklari normalde lizozomal hidrolitik enzimler tarafindan yikilmasi gereken fakat bu islem gerceklesmedigi icin lizozomlarda biriken metabolitler tarafindan olusturulur. Depo edilen metabolitin cinsine gore eksik enzim tespit edilir. Depo edilen metabolitler genellikle sfingolipidler ve glikozaminoglikanlardir." @default.
- W1929595838 created "2016-06-24" @default.
- W1929595838 creator A5038824964 @default.
- W1929595838 creator A5066890399 @default.
- W1929595838 date "2009-12-23" @default.
- W1929595838 modified "2023-10-18" @default.
- W1929595838 title "Lizozomal Depo Hastalıkllarının Tanı Ve Tedavisinde Yeni Yaklaşımlar" @default.
- W1929595838 doi "https://doi.org/10.5835/jecm.v19i1.266" @default.
- W1929595838 hasPublicationYear "2009" @default.
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