" /> hyperphenylalaninemia with primapterinuria - CISMeF





Preferred Label : hyperphenylalaninemia with primapterinuria;

MeSH synonym : hyperphenylalaninemia, BH4-Deficient, D; HPABH4D; CADH deficiency; hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, due to Pterin-4-Alpha-Carbinolamine dehydratase deficiency; PCBD deficiency;

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28/07/2025


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