تصفح College of Health Sciences حسب الموضوع "GC/MS"
السجلات المعروضة 1 -- 1 من 1
-
Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene
( Springer US , 2016 , Article)Abstract To characterize an Egyptian patient with glutaric acidemia type I (GA I) and to identify the causative mutation( s) that may be responsible for the disease phenotype. MRI was performed on the patient using the ...