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Article

Dihydropteridine reductase deficiency in man: from biology to treatment.

Medicinal research reviews - 1 Mar 2004

Ponzone Alberto, Spada Marco, Ferraris Silvio, Dianzani Irma, de Sanctis Luisa

Abstract excerpt

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 progresses have been made in the understanding of physiopathology, screening, diagnosis, treatment, and molecular genetics of...

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Identifiers

PMID: 14705166
DOI: 10.1002/med.10055

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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