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Items: 1 to 20 of 34

1.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
Derralynn A Hughes, Kathleen Nicholls, Suma P Shankar, Gere Sunder-Plassmann, David Koeller, Khan Nedd, Gerard Vockley, Takashi Hamazaki, Robin Lachmann, Toya Ohashi, Iacopo Olivotto, Norio Sakai, Patrick Deegan, David Dimmock, François Eyskens, Dominique P Germain, Ozlem Goker-Alpan, Eric Hachulla, Ana Jovanovic, Charles M Lourenco, Ichiei Narita, Mark Thomas, William R Wilcox, Daniel G Bichet, Raphael Schiffmann, Elizabeth Ludington, Christopher Viereck, John Kirk, Julie Yu, Franklin Johnson, Pol Boudes, Elfrida R Benjamin, David J Lockhart, Carrolee Barlow, Nina Skuban, Jeffrey P Castelli, Jay Barth, Ulla Feldt-Rasmussen
J Med Genet. 2017 Apr; 54(4): 288–296. Published online 2016 Nov 10. doi: 10.1136/jmedgenet-2016-104178
Correction in:
J Med Genet. 2018 Jun; 55(6): 422–429.
PMCID:
PMC5502308
ArticlePDF–628K
2.
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Dominique P Germain, Joel Charrow, Robert J Desnick, Nathalie Guffon, Judy Kempf, Robin H Lachmann, Roberta Lemay, Gabor E Linthorst, Seymour Packman, C Ronald Scott, Stephen Waldek, David G Warnock, Neal J Weinreb, William R Wilcox
J Med Genet. 2015 May; 52(5): 353–358. Published online 2015 Mar 20. doi: 10.1136/jmedgenet-2014-102797
PMCID:
PMC4413801
ArticlePDF–1.8M
3.
Use of a Modified α-N-Acetylgalactosaminidase in the Development of Enzyme Replacement Therapy for Fabry Disease
Youichi Tajima, Ikuo Kawashima, Takahiro Tsukimura, Kanako Sugawara, Mayuko Kuroda, Toshihiro Suzuki, Tadayasu Togawa, Yasunori Chiba, Yoshifumi Jigami, Kazuki Ohno, Tomoko Fukushige, Takuro Kanekura, Kohji Itoh, Toya Ohashi, Hitoshi Sakuraba
Am J Hum Genet. 2009 Nov 13; 85(5): 569–580. doi: 10.1016/j.ajhg.2009.09.016
PMCID:
PMC2775840
ArticlePDF–1.3M
4.
Short PR intervals and tachyarrhythmias in Fabry's disease.
J. Efthimiou, J. McLelland, D. J. Betteridge
Postgrad Med J. 1986 Apr; 62(726): 285–287. doi: 10.1136/pgmj.62.726.285
Correction in:
Postgrad Med J. 1986 Jun; 62(728): 508.
PMCID:
PMC2418650
SummaryPage BrowsePDF–792K
5.
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
Johannes M. Aerts, Johanna E. Groener, Sijmen Kuiper, Wilma E. Donker-Koopman, Anneke Strijland, Roelof Ottenhoff, Cindy van Roomen, Mina Mirzaian, Frits A. Wijburg, Gabor E. Linthorst, Anouk C. Vedder, Saskia M. Rombach, Josanne Cox-Brinkman, Pentti Somerharju, Rolf G. Boot, Carla E. Hollak, Roscoe O. Brady, Ben J. Poorthuis
Proc Natl Acad Sci U S A. 2008 Feb 26; 105(8): 2812–2817. Published online 2008 Feb 19. doi: 10.1073/pnas.0712309105
PMCID:
PMC2268542
ArticlePDF–423K
6.
Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease
C.R. Kaneski, D.F. Moore, M. Ries, G.C. Zirzow, R. Schiffmann
Neurology. Author manuscript; available in PMC 2007 Aug 22.
Published in final edited form as: Neurology. 2006 Dec 12; 67(11): 2045–2047. doi: 10.1212/01.wnl.0000247278.88077.09
PMCID:
PMC1950664
ArticlePDF–59K
7.
The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus
John M. Opitz, Frank C. Stiles, David Wise, R. R. Race, Ruth Sanger, George R. Von Gemmingen, Robert R. Kierland, E. G. Cross, W. P. De Groot
Am J Hum Genet. 1965 Jul; 17(4): 325–342.
PMCID:
PMC1932618
SummaryPage BrowsePDF–1.7M
8.
Light- and electron-microscopic histochemistry of Fabry's disease.
T. Faraggiana, J. Churg, E. Grishman, L. Strauss, A. Prado, D. F. Bishop, E. Schuchman, R. J. Desnick
Am J Pathol. 1981 May; 103(2): 247–262.
PMCID:
PMC1903824
SummaryPage BrowsePDF–7.3M
9.
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
K MacDermot, A Holmes, A Miners
J Med Genet. 2001 Nov; 38(11): 750–760. doi: 10.1136/jmg.38.11.750
PMCID:
PMC1734761
SummaryPDF–219K
10.
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
K MacDermot, A Holmes, A Miners
J Med Genet. 2001 Nov; 38(11): 769–775. doi: 10.1136/jmg.38.11.769
PMCID:
PMC1734754
SummaryPDF–121K
11.
Evidence for preferential X-chromosome inactivation in a family with Fabry disease.
H H Ropers, T F Wienker, T Grimm, K Schroetter, K Bender
Am J Hum Genet. 1977 Jul; 29(4): 361–370.
PMCID:
PMC1685395
SummaryPage BrowsePDF–917K
12.
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
C M Eng, L A Resnick-Silverman, D J Niehaus, K H Astrin, R J Desnick
Am J Hum Genet. 1993 Dec; 53(6): 1186–1197.
PMCID:
PMC1682507
SummaryPage BrowsePDF–1.9M
13.
Gut Lesions in Fabry's Disease Without a Rash
D. M. Flynn, B. D. Lake, C. B. Boothby, Elisabeth P. Young
Arch Dis Child. 1972 Feb; 47(251): 26–33. doi: 10.1136/adc.47.251.26
PMCID:
PMC1648012
SummaryPage BrowsePDF–1.8M
14.
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening
Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, Robert J. Desnick
Am J Hum Genet. 2006 Jul; 79(1): 31–40. Published online 2006 Apr 28. doi: 10.1086/504601
PMCID:
PMC1474133
ArticlePDF–1.2M
15.
Renal transplantation in Anderson-Fabry disease.
M Clement, R J McGonigle, P M Monkhouse, A M Keogh, R H Marten, M Bewick, V Parsons
J R Soc Med. 1982 Jul; 75(7): 557–560. doi: 10.1177/014107688207500716
PMCID:
PMC1437901
SummaryPage BrowsePDF–834K
16.
A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety Studies
Christine M. Eng, Maryam Banikazemi, Ronald E. Gordon, Martin Goldman, Robert Phelps, Leona Kim, Alan Gass, Jonathan Winston, Steven Dikman, John T. Fallon, Scott Brodie, Charles B. Stacy, Davendra Mehta, Rosaleen Parsons, Karen Norton, Michael O’Callaghan, Robert J. Desnick
Am J Hum Genet. 2001 Mar; 68(3): 711–722. Published online 2001 Feb 1. doi: 10.1086/318809
PMCID:
PMC1274483
ArticlePDF–1.3M
17.
Fabry Disease: Preclinical Studies Demonstrate the Effectiveness of α-Galactosidase A Replacement in Enzyme-Deficient Mice
Yiannis A. Ioannou, Ken M. Zeidner, Ronald E. Gordon, Robert J. Desnick
Am J Hum Genet. 2001 Jan; 68(1): 14–25. Published online 2000 Dec 13. doi: 10.1086/316953
PMCID:
PMC1234907
ArticlePDF–2.3M
18.
Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease
William R. Wilcox, Maryam Banikazemi, Nathalie Guffon, Stephen Waldek, Philip Lee, Gabor E. Linthorst, Robert J. Desnick, Dominique P. Germain, International Fabry Disease Study Group
Am J Hum Genet. 2004 Jul; 75(1): 65–74. Published online 2004 May 20. doi: 10.1086/422366
PMCID:
PMC1182009
ArticlePDF–173K
19.
A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations.
L Hasholt, S A Sørensen, A Wandall, E B Andersen, P Arlien-Søborg
J Med Genet. 1990 May; 27(5): 303–306. doi: 10.1136/jmg.27.5.303
PMCID:
PMC1017080
SummaryPage BrowsePDF–859K
20.
Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.
A J Kirkilionis, D C Riddell, M W Spence, R G Fenwick
J Med Genet. 1991 Apr; 28(4): 232–240. doi: 10.1136/jmg.28.4.232
PMCID:
PMC1016823
SummaryPage BrowsePDF–1.5M

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