Browsing by Subject "Glutaric acidemia type I"
Now showing items 1-2 of 2
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Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I
( Springer US , 2017 , Article)Glutaric acidemia I (GAI) is an autosomal recessive metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase enzyme (GCDH). Patients with GAI are characterized by macrocephaly, acute encephalitis-like crises, ... -
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 ...