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Results: 1-25 | 26-30
Results: 1-25/30
Glycogen storage disease type Ia: molecular study in Brazilian patients
Authors: Reis, FD Caldas, HC Norato, DYJ Schwartz, IVD Giugliani, R Burin, MG Sartorato, EL
Citation: Fd. Reis et al., Glycogen storage disease type Ia: molecular study in Brazilian patients, J HUM GENET, 46(3), 2001, pp. 146-149
A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease - Causing mutations
Authors: Jardim, LB Silveira, I Pereira, ML Ferro, A Alonso, I Moreira, MDC Mendonca, P Ferreirinha, F Sequeiros, J Giugliani, R
Citation: Lb. Jardim et al., A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease - Causing mutations, J NEUROL, 248(10), 2001, pp. 870-876
Molecular analysis of the PiZ allele in patients with liver disease
Authors: Lima, LC Matte, U Leistner, S Bopp, AR Scholl, VC Giugliani, R da Silveira, TR
Citation: Lc. Lima et al., Molecular analysis of the PiZ allele in patients with liver disease, AM J MED G, 104(4), 2001, pp. 287-290
Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma alpha-L-iduronidase
Authors: Mandelli, J Wajner, A Pires, R Giugliani, R Coelho, JC
Citation: J. Mandelli et al., Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma alpha-L-iduronidase, CLIN CHIM A, 312(1-2), 2001, pp. 81-86
Effects of imilglucerase withdrawal on an adult with Gaucher disease
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
Renal-coloboma syndrome in a Brazilian family
Authors: Gus, PI de Souza, CFM Porteous, S Eccles, M Giugliani, R
Citation: Pi. Gus et al., Renal-coloboma syndrome in a Brazilian family, ARCH OPHTH, 119(10), 2001, pp. 1563-1565
Neurologic findings in Machado-Joseph disease - Relation with disease duration, subtypes, and (CAG)(n)
Authors: Jardim, LB Pereira, ML Silveira, I Ferro, A Sequeiros, J Giugliani, R
Citation: Lb. Jardim et al., Neurologic findings in Machado-Joseph disease - Relation with disease duration, subtypes, and (CAG)(n), ARCH NEUROL, 58(6), 2001, pp. 899-904
Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds
Authors: Jardim, LB Pereira, ML Silveira, I Ferro, A Sequeiros, J Giugliani, R
Citation: Lb. Jardim et al., Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds, ACT NEUR SC, 104(4), 2001, pp. 224-231
Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo's Oil
Authors: Vargas, CR Barschak, AG Coelho, DM Furlanetto, V de Souza, CFM Karam, SM Jardim, L Wajner, M Giugliani, R
Citation: Cr. Vargas et al., Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo's Oil, GENET MOL B, 23(4), 2000, pp. 697-701
X-linked adrenoleukodystrophy: Clinical and laboratory findings in 15 Brazilian patients
Authors: Vargas, CR Coelho, DD Barschak, AG de Souza, CFM Puga, ACS Schwartz, IVD Jardim, L Giugliani, R
Citation: Cr. Vargas et al., X-linked adrenoleukodystrophy: Clinical and laboratory findings in 15 Brazilian patients, GENET MOL B, 23(2), 2000, pp. 261-264
Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations
Authors: Coelho, JC Giugliani, R
Citation: Jc. Coelho et R. Giugliani, Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations, GENET MOL B, 23(2), 2000, pp. 269-271
Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation
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
Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: Analysis of enzyme activity in intestinal biopsies
Authors: Ayling, JE Bailey, SW Boerth, SR Giugliani, R Braegger, CP Thony, B Blau, N
Citation: Je. Ayling et al., Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: Analysis of enzyme activity in intestinal biopsies, MOL GEN MET, 70(3), 2000, pp. 179-188
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice
Authors: Porteous, S Torban, E Cho, NP Cunliffe, H Chua, L McNoe, L Ward, T Souza, C Gus, P Giugliani, R Sato, T Yun, K Favor, J Sicotte, M Goodyer, P Eccles, M
Citation: S. Porteous et al., Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice, HUM MOL GEN, 9(1), 2000, pp. 1-11
High immunocontent of S100 beta protein in amniotic fluid of pregnancies with Down syndrome
Authors: Portela, LC Tort, ABL Neto, EC Kessler, RG Penchaszadeh, V Souza, DO Goncalves, CA Giugliani, R
Citation: Lc. Portela et al., High immunocontent of S100 beta protein in amniotic fluid of pregnancies with Down syndrome, ULTRASOUN O, 16(6), 2000, pp. 590-592
Unique frequency of known mutations in Brazilian MPS I patients
Authors: Matte, U Leistner, S Lima, L Schwartz, I Giugliani, R
Citation: U. Matte et al., Unique frequency of known mutations in Brazilian MPS I patients, AM J MED G, 90(2), 2000, pp. 108-109
Effect of collection, transport, processing and storage of blood specimenson the activity of lysosomal enzymes in plasma and leukocytes
Authors: Burin, M Dutra, C Brum, J Mauricio, T Amorim, M Giugliani, R
Citation: M. Burin et al., Effect of collection, transport, processing and storage of blood specimenson the activity of lysosomal enzymes in plasma and leukocytes, BRAZ J MED, 33(9), 2000, pp. 1003-1013
Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations
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
Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects
Authors: Sopelsa, AMI Severini, MHA Da Silva, CMD Tobo, PR Giugliani, R Coelho, JC
Citation: Ami. Sopelsa et al., Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects, CLIN BIOCH, 33(2), 2000, pp. 125-129
Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis
Authors: Silva, CMD Severini, MH Sopelsa, A Coelho, JC Zaha, A d'Azzo, A Giugliani, R
Citation: Cmd. Silva et al., Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis, HUM MUTAT, 13(5), 1999, pp. 401-409
Pregnancy outcome after exposure to misoprostol in Brazil: A prospective, controlled study
Authors: Schuler, L Pastuszak, A Sanseverino, MTV Orioli, IM Brunoni, D Ashton-Prolla, P da Costa, FS Giugliani, R Couto, AM Brandao, SB Koren, G
Citation: L. Schuler et al., Pregnancy outcome after exposure to misoprostol in Brazil: A prospective, controlled study, REPROD TOX, 13(2), 1999, pp. 147-151
Fabry disease: Comparison of enzymatic, linkage, and mutation analysis forcarrier detection in a family with a novel mutation (30delG)
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
Arylsulfatase A pseudodeficiency in healthy Brazilian individuals
Authors: Pedron, CG Gaspar, PA Giugliani, R Pereira, MLS
Citation: Cg. Pedron et al., Arylsulfatase A pseudodeficiency in healthy Brazilian individuals, BRAZ J MED, 32(8), 1999, pp. 941-945
Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts
Authors: Scalco, FB Giugliani, R Tobo, P Coelho, JC
Citation: Fb. Scalco et al., Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts, BRAZ J MED, 32(1), 1999, pp. 23-28
Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil
Authors: Raskin, S Phillips, JA Kaplan, G McClure, M Vnencak-Jones, C Rozov, T Cardieri, JM Marostica, P Abreu, F Giugliani, R Reis, F Rosario, NA Ludwig, N Pereira, L Faucz, F Gabardo, J Culpi, L
Citation: S. Raskin et al., Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil, HUMAN BIOL, 71(1), 1999, pp. 111-121
Risultati: 1-25 | 26-30