Article
Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population.
Pediatric research - 1 Nov 1999
Enns G M, Martinez D R, Kuzmin A I, Koch R, Wakeem C K, Woo S L, Eisensmith R C, Packman S
Abstract excerpt
We studied 133 California phenylketonuria (PKU) patients and one obligate heterozygote to delineate the molecular basis of PKU in a population with greater ethnic diversity than in previous studies, and to determine whether a correlation exists between genotype and clinical phenotype, with the latter defined by both the diagnostic pretreatment blood phenylalanine (PHE) level and cognitive (IQ) test scores. To...
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