-
6
-
-
0019196994
-
Purification and characterization of human α-galactosidase isozymes: Comparison of tissue and plasma forms and evaluation of purification methods
-
Desnick RJ (ed) Enzyme therapy in genetic diseases. Alan R Liss, New York
-
(1980)
, vol.2
, pp. 17-32
-
-
Bishop, D.F.1
Dean, K.J.2
Sweeley, C.C.3
Desnick, R.J.4
-
7
-
-
0006583557
-
Enzyme therapy. XX. Further evidence for the differential in vivo fate of human splenic and plasma forms of α-galactosidase A in Fabry disease: Recovery of exogenous activity from hepatic tissue
-
Callahan JW, Lowden JA (eds) Lysosomes and lysosomal storage diseases. Raven Press, New York
-
(1981)
, pp. 381-394
-
-
Bishop, D.F.1
Kovac, C.R.2
Desnick, R.J.3
-
13
-
-
0015583864
-
Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes: α-galactosidase activities in plasma, serum, urine, and leukocytes
-
(1973)
J Lab Clin Med
, vol.81
, pp. 157-171
-
-
Desnick, R.J.1
Allen, K.Y.2
Desnick, S.J.3
Raman, M.K.4
Bernlohr, R.W.5
Krivit, W.6
-
15
-
-
0019206793
-
Enzyme therapy. XVII. Metabolic and immunologic evaluation of α-galactosidase A replacement in Fabry disease
-
(1980)
Birth Defects
, vol.16
, pp. 393-413
-
-
Desnick, R.J.1
-
16
-
-
0000889058
-
α-galactosidase A deficiency: Fabry disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited diseases, 7th ed. McGraw-Hill, New York
-
(1995)
, pp. 2741-2784
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
17
-
-
0000889058
-
α-Galactosidase A deficiency: Fabry disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds) The metabolic and molecular basis of inherited diseases, 8th ed. McGraw-Hill, New York
-
(2001)
, pp. 3733-3774
-
-
Desnick, R.J.1
-
19
-
-
0002632544
-
Enzyme replacement therapy in Fabry disease: Results of a placebo-controlled phase 3 trial
-
(2000)
Am J Hum Genet
, vol.67
, pp. 38
-
-
Eng, C.M.1
Cochat, P.2
Wilcox, W.R.3
Germain, D.P.4
Lee, P.5
Waldek, S.6
Caplan, L.7
Heymans, H.8
Braakman, T.9
Fitzpatrick, M.A.10
Huertas, P.11
O'Callaghan, M.W.12
Richards, S.13
Tandon, P.14
Desnick, R.J.15
-
20
-
-
0006547355
-
Enzyme replacement therapy in Fabry diseases: Results of a phase I/II clinical trial
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 222
-
-
Eng, C.M.1
Phelps, R.2
Kim, L.3
Goldman, M.4
Gordon, R.5
Glass, A.6
Winston, J.7
Brodie, S.8
Mehta, D.9
Dikman, S.10
Fallon, J.11
Parsons, R.12
Stacy, C.13
Shinnar, M.14
Rosenberg, M.15
O'Callaghan, M.16
Fitzpatrick, M.17
Huertas, P.18
Desnick, R.J.19
-
25
-
-
0025881866
-
Hepatic endocytosis of various types of mannose-terminated albumins: What is important, sugar recognition, net charge, or the combination of these features
-
(1991)
J Biol Chem
, vol.266
, pp. 3343-3348
-
-
Jansen, R.W.1
Molema, G.2
Ching, T.L.3
Oosting, R.4
Harms, G.5
Moolenaar, F.6
Hardonk, M.J.7
Meijer, D.K.8
-
27
-
-
0018127318
-
Quantitative high-performance thin-layer chromatography of lipids in plasma and liver homogenates after direct application of 0.5-microliter samples to the silica-gel layer
-
(1978)
J Chromatogr
, vol.146
, pp. 261-271
-
-
Kupke, I.R.1
Zeugner, S.2
-
35
-
-
0002268574
-
Efficacy and safety of enzyme replacement therapy for Fabry disease demonstrated by a double-blind placebo-controlled trial
-
(2000)
Am J of Hum Genet
, vol.67
, pp. 38
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin, H.3
Moore, D.F.4
Sabnis, S.5
Weibel, T.6
Balow, J.E.7
Brady, R.O.8
-
36
-
-
12944265457
-
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 365-370
-
-
Schiffmann, R.1
Murray, G.J.2
Treco, D.3
Daniel, P.4
Sellos-Moura, M.5
Myers, M.6
Quirk, J.M.7
Zirzow, G.C.8
Borowski, M.9
Loveday, K.10
Anderson, T.11
Gillespie, F.12
Oliver, K.L.13
Jeffries, N.O.14
Doo, E.15
Liang, T.J.16
Kreps, C.17
Gunter, K.18
Frei, K.19
Crutchfield, K.20
Selden, R.F.21
Brady, R.O.22
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