Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency
Author:
Publisher
Wiley
Subject
General Medicine,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.2002.tb03331.x/fullpdf
Reference24 articles.
1. PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus;Hoang;Nucl Acids Res,1996
2. The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency;Guttler;Eur J Pediatr,1996
3. A European Multicenter Study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype;Guldberg;Am J Hum Genet,1998
4. Human phenylalanine hydroxylase mutations and hyperphenyl-alaninemia phenotypes: a metanalysis of genotype-phenotype correlations;Kayaalp;Am J Hum Genet,1997
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1. Carriers of autosomal recessive conditions: are they really ‘unaffected?’;Journal of Medical Genetics;2023-09-29
2. Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations;Pigment Cell & Melanoma Research;2018-03-12
3. Growth and Final Height Among Children With Phenylketonuria;Pediatrics;2017-11-01
4. Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals;Journal of Inborn Errors of Metabolism and Screening;2015-02-18
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