Biochemical control, genetic analysis and magnetic resonance imaging in patients with phenylketonuria.

doi:10.1007/BF02073379

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Article

Biochemical control, genetic analysis and magnetic resonance imaging in patients with phenylketonuria.

European journal of pediatrics - 1 Oct 1993

Walter J H, Tyfield L A, Holton J B, Johnson C

Abstract excerpt

Thirteen patients with phenylketonuria, detected by neonatal screening and started on diet within 16 days of age, were investigated between 10 and 18 years of age by magnetic resonance imaging (MRI) of the brain. Biochemical control was assessed from: (1) the life time blood phenylalanine (Phe) c...

Topics

Adolescent
Brain
Child
DNA
Haplotypes
Humans
Magnetic Resonance Imaging
Mutation
Phenylalanine
Phenylketonurias
Polymorphism, Restriction Fragment Length

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