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