Progression of 6‐pyruvoyl‐tetrahydropterin synthase deficiency from a peripheral into a central phenotype
- 1 May 1990
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 13 (3) , 298-300
- https://doi.org/10.1007/bf01799379
Abstract
No abstract availableThis publication has 9 references indexed in Scilit:
- Inborn Errors of Pterin MetabolismAnnual Review of Nutrition, 1988
- Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriersEuropean Journal of Pediatrics, 1988
- ?Peripheral? tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosityEuropean Journal of Pediatrics, 1987
- Atypical phenylketonuria with ?dihydrobiopterin synthetase? deficiency: Absence of phosphate-eliminating enzyme activity demonstrated in liverEuropean Journal of Pediatrics, 1985
- Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesisEuropean Journal of Pediatrics, 1984
- Phenylalaninaemia: Differential diagnosisArchives of Disease in Childhood, 1974