Detection of inborn error of metabolisms by urine organic acid GC-MS in Southern China
نویسندگان
چکیده
منابع مشابه
Detection of inborn error of metabolisms by urine organic acid GC-MS in Southern China
Results We diagnosed 148 cases of IEM by urine GC-MS analysis, including 97 cases of organic acid disorders, 41 cases of amion acid disorders and 10 cases of fatty acid oxidative disorders. Methylmalonic aciduria (MMA) was most common (48 cases), followed by urea cycle disorder (21 cases), phenylketonuria (20 cases), propionic aciduria (11 cases), multiple carboxylase deficiency (8 cases), glut...
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Selective screening of 650 high risk Iranian patients for detection of inborn error of metabolism
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ژورنال
عنوان ژورنال: International Journal of Pediatric Endocrinology
سال: 2013
ISSN: 1687-9856
DOI: 10.1186/1687-9856-2013-s1-p180