Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry
نویسندگان
چکیده
منابع مشابه
Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry
BACKGROUND Oligosaccharidoses, which belong to the lysosomal storage diseases, are inherited metabolic disorders due to the absence or the loss of function of one of the enzymes involved in the catabolic pathway of glycoproteins and indirectly of glycosphingolipids. This enzymatic deficiency typically results in the abnormal accumulation of uncompletely degraded oligosaccharides in the urine. S...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2014
ISSN: 1750-1172
DOI: 10.1186/1750-1172-9-19