Dopamine agonists in dihydropteridine reductase deficiency
β Scribed by Francesco Porta; Alessandro Mussa; Daniela Concolino; Marco Spada; Alberto Ponzone
- Book ID
- 116989717
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 236 KB
- Volume
- 105
- Category
- Article
- ISSN
- 1096-7192
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Two siblings with increased levels of serum phenylalanine were detected by newborn screening. The older sibling deteriorated neurologically and mentally, despite early dietary control, and died at the age of 64 years, In the younger sibling phenylalanine hydroxylase activity in liver tissue was norm
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