Frequency of 12 mutations in 114 children with phenylketonuria in the Midwest region of the USA

No abstract is available for this paper.

• Publication year

  1994

• Venue

  Journal of Inherited Metabolic Disease

• Publication date

  1994-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/BF00711829PMID 7807952
• 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.

• Comparison of genotype and intellectual phenotype in untreated PKU patients.

  1993cited by this paper
• Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

  1993cited by this paper
• Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene

  1992cited by this paper
• Phenylketonuria: screening, treatment and maternal PKU.

  1991cited by this paper
• Molecular basis of phenotypic heterogeneity in phenylketonuria.

  1991cited by this paper
• Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene.

  1986cited by this paper
• Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.

  1985cited by this paper
• Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.

  1985cited by this paper

• Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population

  2021influential citation
• Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China.

  2020cites this paper
• Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population

  2019cites this paper
• Chapter 92 – Amino Acid Metabolism

  2013cites this paper
• Properties and Modeling of GWAS when Complex Disease Risk Is Due to Non-Complementing, Deleterious Mutations in Genes of Large Effect

  2013cites this paper
• Mild hyperphenylalaninemia and heterozygosity of the phenylalanine hydroxylase gene.

  1998cites this paper
• Phenylketonuria: current dietary treatment practices in the United States and Canada.

  1997cites this paper