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Course of psychiatric disorders in a case of 6-Pyruvoyl-tetrahydropterin synthase deficiency

✍ Scribed by D’Agnano, D.; Carducci, C.; Carducci, C.; Marconi, A.; Meli, C.; Leuzzi, V.

Book ID
122950703
Publisher
Elsevier Science
Year
2012
Tongue
French
Weight
71 KB
Volume
60
Category
Article
ISSN
0222-9617

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We have identified deficient biopterin synthesis in four probands and one sib with persistent postnatal hyperphenylalaninemia. The metabolic findings were associated with a benign clinical presentation and normal biopterin level in cerebrospinal fluid in the newborn period, indicating the peripheral