Abstract
Correlation of the response to a load of tetrahydrobiopterin (BH4) in dihydropterin reductase (DHPR) deficient patients to the type of mutation in these patients has led to the conclusion that 4 patients without mutant DHPR molecules in their cells respond to the BH4 load, whereas 3 patients with mutant DHPR in their cells do not respond. Intravenous injection of BH4 in 1 of the cases not responding to BH4 again showed no response.
Original language | English |
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Pages (from-to) | 239-243 |
Number of pages | 5 |
Journal | Journal of Inherited Metabolic Disease |
Volume | 9 |
Issue number | 3 |
DOIs | |
Publication status | Published - 1 Sept 1986 |
Externally published | Yes |