Skip to main content
SpringerLink
Log in

Genotype-phenotype correlation in 11 Romanian PKU families

  • Short Report — The PAH Gene
  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • Blascovics ME, Schaeffler GE, Hack S (1974) Phenylalaninaemia. Differential diagnosis.Arch Dis Child 49: 835:-843.

    Google Scholar 

  • Guldberg P, Henriksen KF, Güttler F (1993) Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.Genomics 17: 141–146.

    Google Scholar 

  • Güttler F (1980) Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.Acta Paediatr Scand (Suppl)280: 1–80.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics III, University School of Medicine, Cluj-Napoca, Romania

    A. Popescu

  2. Department of Biochemistry, University School of Medicine, Cluj-Napoca, Romania

    T. Andrian

  3. The John F. Kennedy Institute, Glostrup, Denmark

    F. Güttler & P. Guldberg

Authors
  1. A. Popescu
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. T. Andrian
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. F. Güttler
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. P. Guldberg
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Popescu, A., Andrian, T., Güttler, F. et al. Genotype-phenotype correlation in 11 Romanian PKU families. J Inherit Metab Dis 17, 374–375 (1994). https://doi.org/10.1007/BF00711837

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00711837

Keywords

Search

Navigation