Disease: Hyperphenylalaninemia with primapterinuria
- Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
- Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies
- Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting
- Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia
- Primapterinuria: a new variant of atypical phenylketonuria