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en Diagnostic methods for Lysosomal Storage Disease بیوشیمی Biochemistry مقالات مروری Review <div style="text-align: justify;">Lysosomal storage disorders (LSD) are a class of metabolic disturbance in which manifested by the accumulation of large molecules (complex lipids, glycoproteins, glycosaminoglycans, etc.) in lysosomes. LSDs have a wide range of clinical symptoms that may contain organ dysfunction, neurological and skeletal disorders. The first stage of diagnosis is clinically suspected by a physician. Next stage is enzyme activity assays including Fluorometry and MS/MS methods. These methods usually placed in newborn program screening. The second laboratory diagnostic stage is molecular examination (RFLP-PCR and ARMS-PCR, Mutations Scanning Methods, DNA sequencing, MLPA and NGS methods) that is confirmation of the enzyme assays. In this article, routine diagnostic methods for LSDs were discussed. The gold standard for enzyme activity assay and molecular diagnosis is TMS and NGS, respectively.<br>  </div> Diagnostic methods, Enzyme activity, Lysosomal storage disease, Molecular assay. 119 128 http://rbmb.net/browse.php?a_code=A-10-145-1&slc_lang=en&sid=1 Armin Mokhtariye mokhtariye.armin@gmail.com 100319475328460017012 100319475328460017012 No Department of Clinical Biochemistry, Medical School, Kermanshah University of Medical Sciences, Kermanshah, Iran. & Department of Medical Laboratory Sciences, Varastegan Institute for Medical Sciences, Mashhad, Iran. Lida Hagh-Nazari haghnazar_lida@yahoo.com 100319475328460017013 100319475328460017013 No Department of Clinical Biochemistry, Medical School, Kermanshah University of Medical Sciences, Kermanshah, Iran. Abdol-Reza Varasteh varasteha@mums.ac.ir 100319475328460017014 100319475328460017014 No Immunobiochemistry Lab, Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. Fatemeh Keyfi keifyf@varastegan.ac.ir 100319475328460017015 100319475328460017015 Yes Department of Medical Laboratory Sciences, Varastegan Institute for Medical Sciences, Mashhad, Iran.