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Results: 1-9 |
Results: 9
Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
Authors: Millat, G Chikh, K Naureckiene, S Sleat, DE Fensom, AH Higaki, K Elleder, M Lobel, P Vanier, MT
Citation: G. Millat et al., Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group, AM J HU GEN, 69(5), 2001, pp. 1013-1021
Niemann-Pick C1 disease: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop
Authors: Millat, G Marcais, C Tomasetto, C Chikh, K Fensom, AH Harzer, K Wenger, DA Ohno, K Vanier, MT
Citation: G. Millat et al., Niemann-Pick C1 disease: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop, AM J HU GEN, 68(6), 2001, pp. 1373-1385
Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes
Authors: Ward, CP Fensom, AH Green, PM
Citation: Cp. Ward et al., Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes, GENET TEST, 4(4), 2000, pp. 351-358
Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community
Authors: Drousiotou, A Stylianidou, G Anastasiadou, V Christopoulos, G Mavrikiou, E Georgiou, T Kalakoutis, G Oladimeji, A Hara, Y Suzuki, K Furihata, K Ueno, I Ioannou, PA Fensom, AH
Citation: A. Drousiotou et al., Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community, HUM GENET, 107(1), 2000, pp. 12-17
Peroxisomal disorders: Clinical and biochemical studies in 15 children andprenatal diagnosis in 7 families
Authors: Steinberg, SJ Elcioglu, N Slade, CM Sankaralingam, A Dennis, N Mohammed, SN Fensom, AH
Citation: Sj. Steinberg et al., Peroxisomal disorders: Clinical and biochemical studies in 15 children andprenatal diagnosis in 7 families, AM J MED G, 85(5), 1999, pp. 502-510
An adult with a non-neuronopathic form of Niemann-Pick C disease
Authors: Fensom, AH Grant, AR Steinberg, SJ Ward, CP Lake, BD Logan, EC Hulman, G
Citation: Ah. Fensom et al., An adult with a non-neuronopathic form of Niemann-Pick C disease, J INH MET D, 22(1), 1999, pp. 84-86
Infantile sialic acid storage disease: report of the first case in South America
Authors: Utagawa, CY Sugayama, SMM Ribeiro, EM Bertola, DR Baba, ER Burin, MG Lewis, E Coelho, JC Fensom, AH Marques-Dias, MJ Gonzales, CH Kim, CA Giugliani, R
Citation: Cy. Utagawa et al., Infantile sialic acid storage disease: report of the first case in South America, CLIN GENET, 55(5), 1999, pp. 386-387
Early infantile form of galactosialidosis in a female baby with a prenataldiagnosis of fetal ascites - First case in Brazil
Authors: dos Santos, CMC Correia, PS Rosa, AAS Vanazzi, E Coelho, JC Burin, MG Giugliani, R Fensom, AH de Oliveira, CPH de Oliveira, MLC Llerena, JC
Citation: Cmc. Dos Santos et al., Early infantile form of galactosialidosis in a female baby with a prenataldiagnosis of fetal ascites - First case in Brazil, GENET MOL B, 21(4), 1998, pp. 443-446
Argininosuccinate lyase: a new autoantigen in liver disease
Authors: Pelli, N Fensom, AH Slade, C Boa, F Mieli-Vergani, G Vergani, D
Citation: N. Pelli et al., Argininosuccinate lyase: a new autoantigen in liver disease, CLIN EXP IM, 114(3), 1998, pp. 455-461
Risultati: 1-9 |