Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria
- 30 December 2003
- journal article
- case report
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 81 (2) , 137-139
- https://doi.org/10.1016/j.ymgme.2003.11.008
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
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- Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiencyHuman Mutation, 2003
- Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the artMolecular Genetics and Metabolism, 2003
- High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002Molecular Genetics and Metabolism, 2002
- Tetrahydrobiopterin Responsiveness in Phenylketonuria Differs between Patients with the Same GenotypeMolecular Genetics and Metabolism, 2001
- Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyThe Journal of Pediatrics, 1999