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Results: 1-25 | 26-30
Results: 1-25/30
Damage mechanical investigations at ductile fracture of free-cutting steels by means of microscopy - void growth and fracture surface topography
Authors: Schiffmann, R Wendt, U Dahl, W
Citation: R. Schiffmann et al., Damage mechanical investigations at ductile fracture of free-cutting steels by means of microscopy - void growth and fracture surface topography, J PHYS IV, 11(PR5), 2001, pp. 187-193
Oral and craniofacial findings in Fabry's disease: A report of 13 patients
Authors: Baccaglini, L Schiffmann, R Brennan, MT Lancaster, HE Kulkarni, AB Brahim, JS
Citation: L. Baccaglini et al., Oral and craniofacial findings in Fabry's disease: A report of 13 patients, ORAL SURG O, 92(4), 2001, pp. 415-419
Selective arterial distribution of cerebral hyperperfusion in Fabry disease
Authors: Moore, DF Herscovitch, P Schiffmann, R
Citation: Df. Moore et al., Selective arterial distribution of cerebral hyperperfusion in Fabry disease, J NEUROIMAG, 11(3), 2001, pp. 303-307
A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2
Authors: Acierno, JS Kennedy, JC Falardeau, JL Leyne, M Bromley, MC Colman, MW Sun, M Bove, C Ashworth, LK Chadwick, LH Schiripo, T Ma, S Goldin, E Schiffmann, R Slaugenhaupt, SA
Citation: Js. Acierno et al., A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2, GENOMICS, 73(2), 2001, pp. 203-210
Natural history of Fabry disease in males: preliminary observations
Authors: Schiffmann, R
Citation: R. Schiffmann, Natural history of Fabry disease in males: preliminary observations, J INH MET D, 24, 2001, pp. 15-17
Enzyme replacement therapy in Fabry disease
Authors: Brady, RO Murray, GJ Moore, DF Schiffmann, R
Citation: Ro. Brady et al., Enzyme replacement therapy in Fabry disease, J INH MET D, 24, 2001, pp. 18-24
Skin manifestations of Fabry disease - Reply
Authors: Schiffmann, R
Citation: R. Schiffmann, Skin manifestations of Fabry disease - Reply, J AM MED A, 286(11), 2001, pp. 1315-1315
Enzyme replacement therapy in Fabry disease - A randomized controlled trial
Authors: Schiffmann, R Kopp, JB Austin, HA Sabnis, S Moore, DF Weibel, T Balow, JE Brady, RO
Citation: R. Schiffmann et al., Enzyme replacement therapy in Fabry disease - A randomized controlled trial, J AM MED A, 285(21), 2001, pp. 2743-2749
Enhanced endothelium-dependent vasodilation in Fabry disease
Authors: Altarescu, G Moore, DF Pursley, R Campia, U Goldstein, S Bryant, M Panza, JA Schiffmann, R
Citation: G. Altarescu et al., Enhanced endothelium-dependent vasodilation in Fabry disease, STROKE, 32(7), 2001, pp. 1559-1562
Evidence for neuroaxonal injury in patients with proteolipid gene mutations - Reply
Authors: Schiffmann, R Bonavita, S Schiffmann, R Moore, DF Freir, K Choir, B Patronas, N Virta, A Buespflug-Tanguy, O Tedeschi, G
Citation: R. Schiffmann et al., Evidence for neuroaxonal injury in patients with proteolipid gene mutations - Reply, NEUROLOGY, 57(10), 2001, pp. 1939-1939
Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations
Authors: Bonavita, S Schiffmann, R Moore, DF Frei, K Choi, B Patronas, N Virta, A Boespflug-Tanguy, O Tedeschi, G
Citation: S. Bonavita et al., Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations, NEUROLOGY, 56(6), 2001, pp. 785-788
Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease
Authors: Garvey, MA Toro, C Goldstein, S Altarescu, G Wiggs, EA Hallett, M Schiffmann, R
Citation: Ma. Garvey et al., Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease, NEUROLOGY, 56(3), 2001, pp. 391-394
The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease
Authors: Altarescu, G Hill, S Wiggs, E Jeffries, N Kreps, C Parker , CC Brady, RO Barton, NW Schiffmann, R Bannarjee, TK Crutchfield, K Frei, K McKee, MA Moore, DF Tournay, A
Citation: G. Altarescu et al., The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease, J PEDIAT, 138(4), 2001, pp. 539-547
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease
Authors: Altarescu, GM Goldfarb, LG Park, KY Kaneski, C Jeffries, N Litvak, S Nagle, JW Schiffmann, R
Citation: Gm. Altarescu et al., Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease, CLIN GENET, 60(1), 2001, pp. 46-51
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation inFabry disease - Reversal by enzyme replacement therapy
Authors: Moore, DF Scott, LTC Gladwin, MT Altarescu, G Kaneski, C Suzuki, K Pease-Fye, M Ferri, R Brady, RO Herscovitch, P Schiffmann, R
Citation: Df. Moore et al., Regional cerebral hyperperfusion and nitric oxide pathway dysregulation inFabry disease - Reversal by enzyme replacement therapy, CIRCULATION, 104(13), 2001, pp. 1506-1512
Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease
Authors: Altarescu, G Schiffmann, R Parker, CC Moore, DF Kreps, C Brady, RO Barton, NW
Citation: G. Altarescu et al., Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease, BL CELL M D, 26(4), 2000, pp. 285-290
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
Authors: Sun, M Goldin, E Stahl, S Falardeau, JL Kennedy, JC Acierno, JS Bove, C Kaneski, CR Nagle, J Bromley, MC Colman, M Schiffmann, R Slaugenhaupt, SA
Citation: M. Sun et al., Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel, HUM MOL GEN, 9(17), 2000, pp. 2471-2478
Profile of endothelial and leukocyte activation in Fabry patients
Authors: DeGraba, T Azhar, S Dignat-George, F Brown, E Boutiere, B Altarescu, G McCarron, R Schiffmann, R
Citation: T. Degraba et al., Profile of endothelial and leukocyte activation in Fabry patients, ANN NEUROL, 47(2), 2000, pp. 229-233
Cutaneous silent periods in patients with Fabry disease
Authors: Syed, NA Sandbrink, F Luciano, CA Altarescu, G Weibel, T Schiffmann, R Floeter, MK
Citation: Na. Syed et al., Cutaneous silent periods in patients with Fabry disease, MUSCLE NERV, 23(8), 2000, pp. 1179-1186
Clinical features of and recent advances in therapy for Fabry disease
Authors: Brady, RO Schiffmann, R
Citation: Ro. Brady et R. Schiffmann, Clinical features of and recent advances in therapy for Fabry disease, J AM MED A, 284(21), 2000, pp. 2771-2775
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
Authors: Schiffmann, R Murray, GJ Treco, D Daniel, P Sellos-Moura, M Myers, M Quirk, JM Zirzow, GC Borowski, M Loveday, K Anderson, T Gillespie, F Oliver, KL Jeffries, NO Doo, E Liang, TJ Kreps, C Gunter, K Frei, K Crutchfield, K Selden, RF Brady, RO
Citation: R. Schiffmann et al., Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease, P NAS US, 97(1), 2000, pp. 365-370
Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome
Authors: Wong, K Armstrong, RC Gyure, KA Morrison, AL Rodriguez, D Matalon, R Johnson, AB Wollmann, R Gilbert, E Le, TQ Bradley, CA Crutchfield, K Schiffmann, R
Citation: K. Wong et al., Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome, ACT NEUROP, 100(6), 2000, pp. 635-646
Enzymatic and functional correction along with long-term enzyme secretion from transduced bone marrow hematopoietic stem progenitor and stromal cellsderived from patients with Fabry disease
Authors: Takenaka, T Hendrickson, CS Tworek, DM Tudor, M Schiffmann, R Brady, RO Medin, JA
Citation: T. Takenaka et al., Enzymatic and functional correction along with long-term enzyme secretion from transduced bone marrow hematopoietic stem progenitor and stromal cellsderived from patients with Fabry disease, EXP HEMATOL, 27(7), 1999, pp. 1149-1159
Lysosomal inclusions in gastric parietal cells in mucolipidosis type IV - A novel cause of achlorhydria and hypergastrinemia
Authors: Lubensky, IA Schiffmann, R Goldin, E Tsokos, M
Citation: Ia. Lubensky et al., Lysosomal inclusions in gastric parietal cells in mucolipidosis type IV - A novel cause of achlorhydria and hypergastrinemia, AM J SURG P, 23(12), 1999, pp. 1527-1531
Diffuse central neuronal involvement in Fabry disease - A proton MRS imaging study
Authors: Tedeschi, G Bonavita, S Banerjee, TK Virta, A Schiffmann, R
Citation: G. Tedeschi et al., Diffuse central neuronal involvement in Fabry disease - A proton MRS imaging study, NEUROLOGY, 52(8), 1999, pp. 1663-1667
Risultati: 1-25 | 26-30