Molecular biology of phenylketonuria

No abstract is available for this paper.

• Publication year

  2004

• Venue

  European Journal of Pediatrics

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/BF00442048PMID 2891509
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• CORRELATION BETWEEN POLYMORPHIC DNA HAPLOTYPES AT THE PHENYLALANINE HYDROXYLASE LOCUS AND CLINICAL PHENOTYPES OF PHENYLKETONURIA

  1987cited by this paper
• Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria.

  1987cited by this paper
• Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

  1987cited by this paper
• Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.

  1986cited by this paper
• Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria.

  1986cited by this paper
• Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

  1986cited by this paper
• Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene.

  1986cited by this paper
• Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.

  1985cited by this paper
• Gene transfer and expression of human phenylalanine hydroxylase.

  1985cited by this paper
• Prenatal diagnosis of classic phenylketonuria by DNA analysis.

  1985cited by this paper
• Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.

  1985cited by this paper
• The PKU locus in man is on chromosome 12.

  1984cited by this paper
• Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans

  1984cited by this paper
• Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

  1983cited by this paper
• Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

  1982cited by this paper
• Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.

  1980cited by this paper
• The isolation and properties of phenylalanine hydroxylase from human liver.

  1974cited by this paper
• Phenylketonuria and some other inborn errors of amino acid metabolism : biochemistry, genetics, diagnosis, therapy

  1971cited by this paper
• Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man

  1968cited by this paper

• The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency

  2009cites this paper
• Importance of diet in maternal phenylketonuria.

  2009cites this paper
• New approaches to the treatment of phenylketonuria.

  2009cites this paper
• Study design and description of patients

  2005cites this paper
• The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria

  2004cites this paper
• Molecular analysis of PKU haplotypes in the population of southern Poland

  2004cites this paper
• Mouse models of human phenylketonuria.

  1993cites this paper
• The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

  1991cites this paper
• Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy

  1990cites this paper
• RFLPs of the phenylalanine hydroxylase gene in the Italian population

  1989cites this paper
• Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany

  1989cites this paper
• Molecular Genetics of PKU and Implications for New Diagnostic and Therapeutic Techniques

  1989cites this paper
• Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic

  1988cites this paper