Genetic background of clinical homogeneity of phenylketonuria in Poland.

In order to elucidate the clinical homogeneity and severity of the hyperphenylalaninaemias in Poland, a total of 71 children with typical phenylketonuria (PKU) originating from western and northern Poland were screened for 13 mutations in the phenylalanine hydroxylase (PAH) gene. Eighty percent of a...

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Bibliographic Details
Main Authors: Jaruzelska, J, Matuszak, R, Lyonnet, S, Rey, F, Rey, J, Filipowicz, J, Borski, K, Munnich, A
Format: Artigo
Language:Inglês
Published: 1993
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016306/
https://ncbi.nlm.nih.gov/pubmed/8097262
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