Author:
Rosa Anna,Carducci Carla,Antonozzi Italo,Giovanniello Teresa,Xhoxhi Evgjeni,Criscuolo Chiara,Menchise Valeria,Striano Salvatore,Filla Alessandro,Michele Giuseppe
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Reference9 articles.
1. Segawa M, Ohmi H, Itoh S et al (1971) Childhood basal ganglia disease with remarkable response to L-Dopa, hereditary basal ganglia disease with marked diurnal fluctuations. Shinryo (Tokyo) 24:667–72
2. Ichinose H, Ohye T, Matsuda Y et al (1994) Hereditary progressive dystonia with marked diurnal fluctuations caused by mutation in the GTP-Cyclohydrolase 1 gene. Nat Genet 8:236–42
3. Nygaard TG, Wilhelmesen KC, Risch NJ et al. (1993) Linkage mapping of dopa responsive dystonia (DRD) to chromosome 14q. Nat Genet 5:386–91
4. Hyland K, Fryburg JS, Wilson WG et al (1997) Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. Neurology 48:1290–297
5. Bracher A, Fischer M, Eisenreich W et al (1999) Histidine 179 mutants of GTP cyclohydrolase I catalyze the formation of 2-amino-5-formylamino-6-ribofuranosylamino-4(3H)-pyrimidinone triphosphate. J Biol Chem 274:16727–6735
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