Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency

J Hum Genet. 2019 Feb;64(2):67-71. doi: 10.1038/s10038-018-0529-5. Epub 2018 Nov 30.

Authors

Shigeo Kure¹, Haruo Shintaku²

Affiliations

¹ Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan. kure@med.tohoku.ac.jp.
² Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.

PMID: 30504912
DOI: 10.1038/s10038-018-0529-5

No abstract available

Publication types

Review

MeSH terms

Animals
Biopterins / analogs & derivatives*
Biopterins / therapeutic use
Humans
Phenylalanine Hydroxylase / deficiency*
Phenylketonurias / drug therapy*
Phenylketonurias / enzymology
Phenylketonurias / pathology
Prognosis

Substances

Biopterins
Phenylalanine Hydroxylase
sapropterin