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Results: 1-6 |
Results: 6

Authors: Schwartz, IVD Karam, S Ashton-Prolla, P Michelin, K Coelho, J Pires, RF Pereira, ML Giugliani, R
Citation: Ivd. Schwartz et al., Effects of imilglucerase withdrawal on an adult with Gaucher disease, BR J HAEM, 113(4), 2001, pp. 1089-1089

Authors: Karam, SM Costa, JC Jardim, L Pires, RF Lehmann, AR Giugliani, R
Citation: Sm. Karam et al., Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation, GENET MOL B, 23(2), 2000, pp. 273-275

Authors: Wajner, M Coelho, DM Barschak, AG Araujo, PR Pires, RF Lulhier, FLG Vargas, CR
Citation: M. Wajner et al., Reduction of large neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crises, J INH MET D, 23(5), 2000, pp. 505-512

Authors: da Silva, LCS Carvalho, TS da Silva, FB Pires, RF Giugliani, R Pereira, MLS
Citation: Lcs. Da Silva et al., Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations, CLIN GENET, 58(1), 2000, pp. 86-88

Authors: Ashton-Prolla, P Ashley, GA Giugliani, R Pires, RF Desnick, RJ Eng, CM
Citation: P. Ashton-prolla et al., Fabry disease: Comparison of enzymatic, linkage, and mutation analysis forcarrier detection in a family with a novel mutation (30delG), AM J MED G, 84(5), 1999, pp. 420-424

Authors: Jardim, LB Giugliani, R Pires, RF Haussen, S Burin, MG Rafi, MA Wenger, DA
Citation: Lb. Jardim et al., Protracted course of Krabbe disease in an adult patient bearing a novel mutation, ARCH NEUROL, 56(8), 1999, pp. 1014-1017
Risultati: 1-6 |