Genotype-phenotype correlation in dihydropteridine reductase deficiency

J Inherit Metab Dis. 2000 Jun;23(4):333-7. doi: 10.1023/a:1005662710891.

Authors

L de Sanctis¹, C Alliaudi, M Spada, R Farrugia, R Cerone, G Biasucci, C Meli, E Zammarchi, T Coskun, N Blau, A Ponzone, I Dianzani

Affiliation

¹ Department of Pediatric Sciences, University of Torino, Italy.

PMID: 10896287
DOI: 10.1023/a:1005662710891

No abstract available

MeSH terms

Amino Acid Metabolism, Inborn Errors / enzymology
Amino Acid Metabolism, Inborn Errors / physiopathology
Dihydropteridine Reductase / genetics
Genotype
Humans
Phenotype
Phenylalanine / blood
Phenylketonurias*

Substances

Phenylalanine
Dihydropteridine Reductase