NEUROLOGICAL IMAGES IN PHENYLKETONURIA (PKU)

Neurological images in phenylketonuria (PKU)

Phenylketonuria is an inborn error of Collections metabolism that causes structural abnormalities in the white matter of the brain.In untreated patients demyelization can be observed, and there is evidence of intramyelin edema even in some treated patients.Imaging studies especially magnetic resonance imaging Table Paper are useful for the study of

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Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency

Background: congenital adrenal hyperplasia is the most frequent cause of sexual ambiguity in childhood.Molecular diagnosis is an element to be considered for the management and genetic counseling of patients and relatives at risk.Objective: to identify the I172N mutation, to determine its frequency in the studied population and its possible relatio

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