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Results: 1-11 |
Results: 11
Mutation analysis of the acid beta-glucosidase gene in a patient with type3 Gaucher disease and neutralizing antibody to alglucerase
Authors: Germain, DP Kaneski, CR Brady, RO
Citation: Dp. Germain et al., Mutation analysis of the acid beta-glucosidase gene in a patient with type3 Gaucher disease and neutralizing antibody to alglucerase, MUT RES-F M, 483(1-2), 2001, pp. 89-94
A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant
Authors: Germain, DP
Citation: Dp. Germain, A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant, CONTR NEPHR, 136, 2001, pp. 234-240
Compressibility of the carotid artery in patients with pseudoxanthoma elasticum
Authors: Boutouyrie, P Germain, DP Tropeano, AI Laloux, B Carenzi, F Zidi, M Jeunemaitre, X Laurent, S
Citation: P. Boutouyrie et al., Compressibility of the carotid artery in patients with pseudoxanthoma elasticum, HYPERTENSIO, 38(5), 2001, pp. 1181-1184
Safety and efficacy of recombinant human alpha-galactosidase a replacementtherapy in Fabry's disease.
Authors: Eng, CM Guffon, N Wilcox, WR Germain, DP Lee, P Waldek, S Caplan, L Linthorst, GE Desnick, RJ
Citation: Cm. Eng et al., Safety and efficacy of recombinant human alpha-galactosidase a replacementtherapy in Fabry's disease., N ENG J MED, 345(1), 2001, pp. 9-16
Non-invasive evaluation of arterial involvement in patients affected with Fabry disease
Authors: Boutouyrie, P Laurent, S Laloux, B Lidove, O Grunfeld, JP Germain, DP
Citation: P. Boutouyrie et al., Non-invasive evaluation of arterial involvement in patients affected with Fabry disease, J MED GENET, 38(9), 2001, pp. 629-631
Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene
Authors: Germain, DP
Citation: Dp. Germain, Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene, J MED GENET, 38(7), 2001, pp. 457-460
Co-occurrence and contribution of Fabry disease and Klippel-Trenaunay-Weber syndrome to a patient with atypical skin lesions
Authors: Germain, DP
Citation: Dp. Germain, Co-occurrence and contribution of Fabry disease and Klippel-Trenaunay-Weber syndrome to a patient with atypical skin lesions, CLIN GENET, 60(1), 2001, pp. 63-67
Fabry disease: clinical and genetic aspects. Therapeutic perspectives
Authors: Germain, DP
Citation: Dp. Germain, Fabry disease: clinical and genetic aspects. Therapeutic perspectives, REV MED IN, 21(12), 2000, pp. 1086-1103
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk
Authors: Lepinard, C Descamps, P Meneguzzi, G Blanchet-Bardon, C Germain, DP Larget-Piet, L Beringue, F Berchel, C Muller, F Dumez, Y
Citation: C. Lepinard et al., Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk, PRENAT DIAG, 20(1), 2000, pp. 70-75
Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticumgene, is not disease-causing
Authors: Germain, DP Perdu, J Remones, V Jeunemaitre, X
Citation: Dp. Germain et al., Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticumgene, is not disease-causing, BIOC BIOP R, 274(2), 2000, pp. 297-301
Fabry disease: Identification of novel alpha-galactosidase a mutations andmolecular carrier detection by use of fluorescent chemical cleavage of mismatches
Authors: Germain, DP Poenaru, L
Citation: Dp. Germain et L. Poenaru, Fabry disease: Identification of novel alpha-galactosidase a mutations andmolecular carrier detection by use of fluorescent chemical cleavage of mismatches, BIOC BIOP R, 257(3), 1999, pp. 708-713
Risultati: 1-11 |