Short Report — The PAH Gene
Genotype-phenotype correlation in 11 Romanian PKU families
A. Popescu,
A. Popescu
Department of Pediatrics III, University School of Medicine, Cluj-Napoca, Romania
Search for more papers by this author T. Andrian,
T. Andrian
Department of Biochemistry, University School of Medicine, Cluj-Napoca, Romania
Search for more papers by this author F. Güttler,
F. Güttler
The John F. Kennedy Institute, Glostrup, Denmark
Search for more papers by this author P. Guldberg,
P. Guldberg
The John F. Kennedy Institute, Glostrup, Denmark
Search for more papers by this author
A. Popescu,
A. Popescu
Department of Pediatrics III, University School of Medicine, Cluj-Napoca, Romania
Search for more papers by this author T. Andrian,
T. Andrian
Department of Biochemistry, University School of Medicine, Cluj-Napoca, Romania
Search for more papers by this author F. Güttler,
F. Güttler
The John F. Kennedy Institute, Glostrup, Denmark
Search for more papers by this author P. Guldberg,
P. Guldberg
The John F. Kennedy Institute, Glostrup, Denmark
Search for more papers by this author
First published: 01 May 1994
No abstract is available for this article.
References
- 1Blascovics ME, Schaeffler GE, Hack S (1974) Phenylalaninaemia. Differential diagnosis. Arch Dis Child, 49: 835:–843.
- 2Guldberg 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.
- 3Güttler F (1980) Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr Scand, 280 (Suppl): 1–80.