Please use this identifier to cite or link to this item:
https://www.um.edu.mt/library/oar/handle/123456789/145917| Title: | L-dopa responsive dystonia due to sepiapterin reductase deficiency, a tetrahydrobiopterin deficiency presenting without hyperphenylalaninaemia |
| Authors: | Farrugia, Rosienne Scerri, Christian A. Soler, D. Parascandolo, Raymond Felice, A. E. |
| Keywords: | Dystonia Tetrahydrobiopterin -- Malta Genes Amino acids Amino acids -- Metabolism -- Disorders -- Malta |
| Issue Date: | 2003 |
| Publisher: | Nature Publishing Group |
| Citation: | Farrugia, R., Scerri, C. A., Soler, D., Parascandolo, R., & Felice, A. E. (2003, May). L-dopa responsive dystonia due to sepiapterin reductase deficiency, a tetrahydrobiopterin deficiency presenting without hyperphenylalaninaemia. 35th European Human Genetics Conference (ESHG), United Kingdom. 167. |
| Abstract: | Sepiapterin reductase (SPR) catalyses the last step in the biosynthesis of tetrahydrobiopterin (BH4), the essential cofactor for the aromatic amino acid hydroxylases as well as glycerol-ether monooxygenase and the three isoforms of nitric oxide synthase. The first patients with this disorder were diagnosed in the last two years. |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/145917 |
| Appears in Collections: | Scholarly Works - FacHScABS |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Ldopa_responsive_dystonia_due_to_sepiapterin_reductase_deficiency_a_tetrahydrobiopterin_deficiency_presenting_without_hyperphenylalaninaemia_2003.pdf | 427.34 kB | Adobe PDF | View/Open |
Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.