Genotype and intellectual phenotype in untreated phenylketonuria patients.

doi:10.1203/00006450-199904010-00004

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Article

Genotype and intellectual phenotype in untreated phenylketonuria patients.

Pediatric research - 1 Apr 1999

Ramus S J, Forrest S M, Pitt D D, Cotton R G

Abstract excerpt

Previous studies have shown that genotype correlates with biochemical phenotype in treated phenylketonuria. If there is a strong correlation between genotype and intellectual phenotype of untreated patients, it would be possible to determine which individuals would have normal intelligence without treatment. In this study, 42 families with untreated phenylketonuria were analyzed to examine whether there was an...

Topics

Amino Acid Substitution
Dinucleotide Repeats
Genetic Markers
Genotype
Haplotypes
Humans
Intellectual Disability
Intelligence
Minisatellite Repeats
Mutation
Phenotype
Phenylalanine
Phenylalanine Hydroxylase
Phenylketonurias
Point Mutation
Sequence Deletion
Victoria
White People

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PMID: 10203137
DOI: 10.1203/00006450-199904010-00004

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