Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonates
- 1 June 2001
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 24 (3) , 352-358
- https://doi.org/10.1023/a:1010596317296
Abstract
Four neonates with a positive phenylalanine screening test (Phe concentrations between 258 and 1250 μmol/L) were investigated further to differentiate between phenylalanine hydroxylase (PAH)...Keywords
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