Partial dihydropteridine reductase deficiency and mental retardation
β Scribed by A. Sahota; R. J. Leeming; J. A. Blair; R. A. Armstrong; A. Green; B. E. Cohen
- Publisher
- Springer
- Year
- 1986
- Tongue
- English
- Weight
- 184 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0141-8955
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π SIMILAR VOLUMES
Communicated by Savio L.C. Woo The spectrum of mutations causing dihydropteridine reductase is reviewed. A total of 12 point mutations have been described that map in the DHPR cDNA, resulting in amino acid substitutions, insertions and premature terminations. A further two mutations are described wh
## Abstract For Abstract see ChemInform Abstract in Full Text.
## 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