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Cranial computerized tomography in dihydropteridine reductase deficiency

✍ Scribed by R. Longhi; R. Valsasina; C. Buttè; S. Paccanelli; E. Riva; M. Giovannini

Publisher
Springer
Year
1985
Tongue
English
Weight
603 KB
Volume
8
Category
Article
ISSN
0141-8955

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## Abstract In 1975, dihydropteridine reductase (DHPR) deficiency was first recognized as a cause of tetrahydrobiopterin (BH~4~) deficiency, leading to hyperphenylalaninemia (HPA) and impaired biogenic amine deficiency. So far, more than 150 patients scattered worldwide have been reported and major