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https://www.um.edu.mt/library/oar/handle/123456789/145825| Title: | Tetrahydrobiopterin deficiencies in the Maltese population |
| Authors: | Farrugia, Rosienne Naudi, R. Attard Montalto, S. Parascandolo, Raymond Scerri, Christian A. Bartolo, C. Felice, A. E. |
| Keywords: | Tetrahydrobiopterin -- Malta Amino acids -- Metabolism -- Disorders -- Malta DNA Genetics |
| Issue Date: | 2002 |
| Publisher: | Nature Publishing Group |
| Citation: | Farrugia, R., Naudi, R., Attard Montalto, S., Parascandolo, R., Scerri, C. A., Bartolo, C., & Felice, A. E. (2002, May). Tetrahydrobiopterin deficiencies in the Maltese population. 34th ESHG Conference, France. 206. |
| Abstract: | A higher than usual frequency of hyperphenylalaninaemia due to tetrahydrobiopterin (BH4) deficiencies, specifically Dihydropteridine Reductase (DHPR) deficiency, is present in the Maltese population. Classical Phenylketonuria due to Phenylalanine Hydroxylase deficiency has not been identified to date. |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/145825 |
| Appears in Collections: | Scholarly Works - FacHScABS |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Tetrahydrobiopterin_deficiencies_in_the_Maltese_population_2002.pdf | 177.85 kB | Adobe PDF | View/Open |
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