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bn:03112248n
Noun Concept
NL
No term available
EN
6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Wikipedia
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erfelijke aandoening
zeldzame ziekte
EN
hyperphenylalaninemia
EN
enzymopathy
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