Journal
MEDICINAL RESEARCH REVIEWS
Volume 24, Issue 2, Pages 127-150Publisher
WILEY-BLACKWELL
DOI: 10.1002/med.10055
Keywords
tetrahydrobiopterin deficiency; neonatal screening; hyperphenylalaninemia; biogenic amine deficiency
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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 this inherited disease. Present knowledge on different aspects of DHPR deficiency, largely derived from authors' personal experience, is traced in this article. (C) 2003 Wiley Periodicals, Inc.
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