Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Mild Phenylketonuria[original query] |
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Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. The New England journal of medicine 2002 12 347 (26): 2122-32. Muntau Ania C, Röschinger Wulf, Habich Matthias, Demmelmair Hans, Hoffmann Björn, Sommerhoff Christian P, Roscher Adelbert |
Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. Molecular genetics and metabolism 0 83 (1-2): 157-62. Desviat Lourdes R, Pérez Belén, Bèlanger-Quintana Amaya, Castro Margarita, Aguado Cristina, Sánchez Ascensión, García Maria José, Martínez-Pardo Mercedes, Ugarte Magdale |
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. Orphanet journal of rare diseases 2015 10 (1): 158. Jeannesson-Thivisol Elise, Feillet François, Chéry Céline, Perrin Pascal, Battaglia-Hsu Shyue-Fang, Herbeth Bernard, Cano Aline, Barth Magalie, Fouilhoux Alain, Mention Karine, Labarthe François, Arnoux Jean-Baptiste, Maillot François, Lenaerts Catherine, Dumesnil Cécile, Wagner Kathy, Terral Daniel, Broué Pierre, de Parscau Loïc, Gay Claire, Kuster Alice, Bédu Antoine, Besson Gérard, Lamireau Delphine, Odent Sylvie, Masurel Alice, Guéant Jean-Louis, Namour Far |
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