-
1
-
-
0035852488
-
Anderson-Fabry's disease: Alpha-galactosidase deficiency
-
Peters FP, Vermeulen A, Kho TL Anderson-Fabry's disease: alpha-galactosidase deficiency. Lancet 2001; 357:138-140.
-
(2001)
Lancet
, vol.357
, pp. 138-140
-
-
Peters, F.P.1
Vermeulen, A.2
Kho, T.L.3
-
2
-
-
0034766525
-
Anderson-Fabry disease: Clinical manifestation and impact of disease in a cohort of 98 hemizygous males
-
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestation and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38:750-760.
-
(2001)
J Med Genet
, vol.38
, pp. 750-760
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
3
-
-
0034614125
-
Clinical features of and recent advances in therapy for Fabry disease
-
Brady RO, Schiffmann R. Clinical features of and recent advances in therapy for Fabry disease J Am Med Assoc 2000; 284:2771-2775.
-
(2000)
J Am Med Assoc
, vol.284
, pp. 2771-2775
-
-
Brady, R.O.1
Schiffmann, R.2
-
4
-
-
0031764478
-
Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: Response to metoclopramide
-
Argoff CE, Barton NW, Brady RO, Ziessman HA. Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide. Nucl Med Commun 1998; 19:887-891.
-
(1998)
Nucl Med Commun
, vol.19
, pp. 887-891
-
-
Argoff, C.E.1
Barton, N.W.2
Brady, R.O.3
Ziessman, H.A.4
-
5
-
-
0024326059
-
Anorexia, weight loss, and diarrhea as presenting symptoms of angiokeratoma corporis diffusum (Fabry-Anderson's disease)
-
Nelis GF, Jacobs GJA. Anorexia, weight loss, and diarrhea as presenting symptoms of angiokeratoma corporis diffusum (Fabry-Anderson's disease). Dig Dis Sci 1989; 34:1798-1800.
-
(1989)
Dig Dis Sci
, vol.34
, pp. 1798-1800
-
-
Nelis, G.F.1
Jacobs, G.J.A.2
-
6
-
-
0021324202
-
Jejunal diverticulosis with perforation as a complication of Fabry's disease
-
Friedman LS, Kirkham SE, Thistlewaite JR, Platika D, Kolodny EH, Schuffler MD. Jejunal diverticulosis with perforation as a complication of Fabry's disease. Gastroenterology 1984; 86:558-563.
-
(1984)
Gastroenterology
, vol.86
, pp. 558-563
-
-
Friedman, L.S.1
Kirkham, S.E.2
Thistlewaite, J.R.3
Platika, D.4
Kolodny, E.H.5
Schuffler, M.D.6
-
7
-
-
0020083541
-
Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry's disease
-
O'Brien BD, Shnitka TK, McDougall R, Walker K, Costopulos L, Lentle B, et al. Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry's disease. Gastroenterology 1982; 82:957-962.
-
(1982)
Gastroenterology
, vol.82
, pp. 957-962
-
-
O'Brien, B.D.1
Shnitka, T.K.2
McDougall, R.3
Walker, K.4
Costopulos, L.5
Lentle, B.6
-
12
-
-
0015915183
-
Replacement therapy for inherited enzyme deficiency. Use of purified ceramidtrihexosidase in Fabry's disease
-
Brady RO, Tallmann JF, Johnson WG, Gal AE, Leahy WR, Quirk JM, Debakan AS. Replacement therapy for inherited enzyme deficiency. Use of purified ceramidtrihexosidase in Fabry's disease. N Engl J Med 1973; 289:9-14.
-
(1973)
N Engl J Med
, vol.289
, pp. 9-14
-
-
Brady, R.O.1
Tallmann, J.F.2
Johnson, W.G.3
Gal, A.E.4
Leahy, W.R.5
Quirk, J.M.6
Debakan, A.S.7
-
13
-
-
0027302227
-
Gaucher disease: Enzymology, genetics, and treatment
-
Harris H, Hirschhorn K (editors). New York, Plenum Press
-
Grabowski GA. Gaucher disease: enzymology, genetics, and treatment. In: Harris H, Hirschhorn K (editors): Advances in Human Genetics. New York, Plenum Press; 1993, pp. 377-441.
-
(1993)
Advances in Human Genetics
, pp. 377-441
-
-
Grabowski, G.A.1
-
15
-
-
0035811624
-
Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease
-
International Collaborative Fabry Disease Study Group
-
Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 2001; 345:9-16.
-
(2001)
N Engl J Med
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
Germain, D.P.4
Lee, P.5
Waldek, S.6
-
16
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. J Am Med Assoc 2001; 285:2743-2749.
-
(2001)
J Am Med Assoc
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin III, H.A.3
Sabnis, S.4
Moore, D.F.5
Weibel, T.6
-
17
-
-
0036234750
-
Advances in the management of Anderson-Fabry disease: Enzyme replacement therapy
-
Pastores GM, Thadhani R. Advances in the management of Anderson-Fabry disease: enzyme replacement therapy. Expert Opin Biol Ther 2002; 2:325-333.
-
(2002)
Expert Opin Biol Ther
, vol.2
, pp. 325-333
-
-
Pastores, G.M.1
Thadhani, R.2
-
18
-
-
12944265457
-
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
-
Schiffmann R, Murray GJ, Treco D, Daniel P, Sellos-Moura M, Myers M, et al. Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci USA 2000; 97:365-370.
-
(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
|