-
1
-
-
0000889058
-
α-Galactosidase A deficiency: Fabry disease
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, V.E. Kinzler, B. Vogelstein, ed 8. McGraw-Hall New York
-
R.J. Desnick, Y.A. Ioannou, and C.M. Eng α-Galactosidase A deficiency: Fabry disease C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, V.E. Kinzler, B. Vogelstein, The Metabolic and Molecular Bases of Inherited Disease ed 8. 2001 McGraw-Hall New York 3733 3774
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
3
-
-
66349092222
-
Cardiac microvascular pathology in Fabry disease: Evaluation of endomyocardial biopsies before and after enzyme replacement therapy
-
B.L. Thurberg, J.T. Fallon, R. Mitchell, T. Aretz, R.E. Gordon, and M.W. O'Callaghan Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy Circulation 119 2009 2561 2567
-
(2009)
Circulation
, vol.119
, pp. 2561-2567
-
-
Thurberg, B.L.1
Fallon, J.T.2
Mitchell, R.3
Aretz, T.4
Gordon, R.E.5
O'Callaghan, M.W.6
-
4
-
-
2342544939
-
Monitoring the 3-year efficacy of enzyme replacement therapy in Fabry disease by repeated skin biopsies
-
B.L. Thurberg, H. Randolph Byers, S.R. Granter, R.G. Phelps, R.E. Gordon, and M. O'Callaghan Monitoring the 3-year efficacy of enzyme replacement therapy in Fabry disease by repeated skin biopsies J Invest Dermatol 122 2004 900 908
-
(2004)
J Invest Dermatol
, vol.122
, pp. 900-908
-
-
Thurberg, B.L.1
Randolph Byers, H.2
Granter, S.R.3
Phelps, R.G.4
Gordon, R.E.5
O'Callaghan, M.6
-
5
-
-
0036436320
-
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
-
B.L. Thurberg, H. Rennke, R.B. Colvin, S. Dikman, R.E. Gordon, A.B. Collins, R.J. Desnick, and M. O'Callaghan Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy Kidney Int 62 2002 1933 1946
-
(2002)
Kidney Int
, vol.62
, pp. 1933-1946
-
-
Thurberg, B.L.1
Rennke, H.2
Colvin, R.B.3
Dikman, S.4
Gordon, R.E.5
Collins, A.B.6
Desnick, R.J.7
O'Callaghan, M.8
-
6
-
-
84859098154
-
Subcellular, cellular and organ pathology of Fabry disease
-
D. Elstein, G. Altarescu, M. Beck, Springer London
-
M. Elleder Subcellular, cellular and organ pathology of Fabry disease D. Elstein, G. Altarescu, M. Beck, Fabry Disease 2010 Springer London 39 80
-
(2010)
Fabry Disease
, pp. 39-80
-
-
Elleder, M.1
-
7
-
-
0026099642
-
An atypical variant of Fabry's disease with manifestations confined to the myocardium
-
W. von Scheidt, C.M. Eng, T.F. Fitzmaurice, E. Erdmann, G. Hubner, E.G. Olsen, H. Christomanou, R. Kandolf, D.F. Bishop, and R.J. Desnick An atypical variant of Fabry's disease with manifestations confined to the myocardium N Engl J Med 324 1991 395 399
-
(1991)
N Engl J Med
, vol.324
, pp. 395-399
-
-
Von Scheidt, W.1
Eng, C.M.2
Fitzmaurice, T.F.3
Erdmann, E.4
Hubner, G.5
Olsen, E.G.6
Christomanou, H.7
Kandolf, R.8
Bishop, D.F.9
Desnick, R.J.10
-
8
-
-
0037452544
-
Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
-
R.J. Desnick, R. Brady, J. Barranger, A.J. Collins, D.P. Germain, M. Goldman, G. Grabowski, S. Packman, and W.R. Wilcox Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy Ann Intern Med 138 2003 338 346
-
(2003)
Ann Intern Med
, vol.138
, pp. 338-346
-
-
Desnick, R.J.1
Brady, R.2
Barranger, J.3
Collins, A.J.4
Germain, D.P.5
Goldman, M.6
Grabowski, G.7
Packman, S.8
Wilcox, W.R.9
-
9
-
-
12444319931
-
Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype
-
S. Nakao, C. Kodama, T. Takenaka, A. Tanaka, Y. Yasumoto, A. Yoshida, T. Kanzaki, A.L. Enriquez, C.M. Eng, H. Tanaka, C. Tei, and R.J. Desnick Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype Kidney Int 64 2003 801 807
-
(2003)
Kidney Int
, vol.64
, pp. 801-807
-
-
Nakao, S.1
Kodama, C.2
Takenaka, T.3
Tanaka, A.4
Yasumoto, Y.5
Yoshida, A.6
Kanzaki, T.7
Enriquez, A.L.8
Eng, C.M.9
Tanaka, H.10
Tei, C.11
Desnick, R.J.12
-
10
-
-
0029023150
-
An atypical variant of Fabry's disease in men with left ventricular hypertrophy
-
S. Nakao, T. Takenaka, M. Maeda, C. Kodama, A. Tanaka, M. Tahara, A. Yoshida, M. Kuriyama, H. Hayashibe, H. Sakuraba, and H. Tanaka An atypical variant of Fabry's disease in men with left ventricular hypertrophy N Engl J Med 333 1995 288 293
-
(1995)
N Engl J Med
, vol.333
, pp. 288-293
-
-
Nakao, S.1
Takenaka, T.2
Maeda, M.3
Kodama, C.4
Tanaka, A.5
Tahara, M.6
Yoshida, A.7
Kuriyama, M.8
Hayashibe, H.9
Sakuraba, H.10
Tanaka, H.11
-
11
-
-
0034715795
-
[Atypical phenotype of Fabry disease. Evidence of a new mutation]
-
F. Derouiche, G. Rodier, E. Cohen, C. Boulay, P. Bronner, and F. Battaglia [Atypical phenotype of Fabry disease. Evidence of a new mutation] French. Presse Med 29 2000 1978 1980
-
(2000)
French. Presse Med
, vol.29
, pp. 1978-1980
-
-
Derouiche, F.1
Rodier, G.2
Cohen, E.3
Boulay, C.4
Bronner, P.5
Battaglia, F.6
-
12
-
-
0035163539
-
Fabry disease: Preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice
-
Y.A. Ioannou, K.M. Zeidner, R.E. Gordon, and R.J. Desnick Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice Am J Hum Genet 68 2001 14 25
-
(2001)
Am J Hum Genet
, vol.68
, pp. 14-25
-
-
Ioannou, Y.A.1
Zeidner, K.M.2
Gordon, R.E.3
Desnick, R.J.4
-
13
-
-
12644284502
-
Alpha-Galactosidase A deficient mice: A model of Fabry disease
-
T. Ohshima, G.J. Murray, W.D. Swaim, G. Longenecker, J.M. Quirk, C.O. Cardarelli, Y. Sugimoto, I. Pastan, M.M. Gottesman, R.O. Brady, and A.B. Kulkarni Alpha-Galactosidase A deficient mice: a model of Fabry disease Proc Natl Acad Sci USA 94 1997 2540 2544
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 2540-2544
-
-
Ohshima, T.1
Murray, G.J.2
Swaim, W.D.3
Longenecker, G.4
Quirk, J.M.5
Cardarelli, C.O.6
Sugimoto, Y.7
Pastan, I.8
Gottesman, M.M.9
Brady, R.O.10
Kulkarni, A.B.11
-
14
-
-
0000756197
-
Generation of a mouse model with α-galactosidase A deficiency (abstract)
-
A.M. Wang, Y.A. Ionnaou, L.M. Zeidner, R.W. Gotleb, S. Dikman, C.L. Stewart, and R.J. Desnick Generation of a mouse model with α-galactosidase A deficiency (abstract) Am J Hum Genet 59 Suppl 1996 A208
-
(1996)
Am J Hum Genet
, vol.59
, Issue.SUPPL.
, pp. A208
-
-
Wang, A.M.1
Ionnaou, Y.A.2
Zeidner, L.M.3
Gotleb, R.W.4
Dikman, S.5
Stewart, C.L.6
Desnick, R.J.7
-
15
-
-
78649677073
-
Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease
-
J. Marshall, K.M. Ashe, D. Bangari, K. McEachern, W.L. Chuang, J. Pacheco, D.P. Copeland, R.J. Desnick, J.A. Shayman, R.K. Scheule, and S.H. Cheng Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease PLoS One 5 2010 e15033
-
(2010)
PLoS One
, vol.5
, pp. e15033
-
-
Marshall, J.1
Ashe, K.M.2
Bangari, D.3
McEachern, K.4
Chuang, W.L.5
Pacheco, J.6
Copeland, D.P.7
Desnick, R.J.8
Shayman, J.A.9
Scheule, R.K.10
Cheng, S.H.11
-
16
-
-
33846436061
-
Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; Partial prevention by N-butyldeoxynojirimycin treatment
-
T. Heare, N.J. Alp, D.A. Priestman, A.B. Kulkarni, P. Qasba, T.D. Butters, R.A. Dwek, K. Clarke, K.M. Channon, and F.M. Platt Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment J Inherit Metab Dis 30 2007 79 87
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 79-87
-
-
Heare, T.1
Alp, N.J.2
Priestman, D.A.3
Kulkarni, A.B.4
Qasba, P.5
Butters, T.D.6
Dwek, R.A.7
Clarke, K.8
Channon, K.M.9
Platt, F.M.10
-
17
-
-
0036000329
-
Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease
-
R.J. Ziegler, C. Li, M. Cherry, Y. Zhu, D. Hempel, N. van Rooijen, Y.A. Ioannou, R.J. Desnick, M.A. Goldberg, N.S. Yew, and S.H. Cheng Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease Hum Gene Ther 13 2002 935 945
-
(2002)
Hum Gene Ther
, vol.13
, pp. 935-945
-
-
Ziegler, R.J.1
Li, C.2
Cherry, M.3
Zhu, Y.4
Hempel, D.5
Van Rooijen, N.6
Ioannou, Y.A.7
Desnick, R.J.8
Goldberg, M.A.9
Yew, N.S.10
Cheng, S.H.11
-
18
-
-
33847213924
-
Correction of the biochemical and functional deficits in Fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A
-
R.J. Ziegler, M. Cherry, C.M. Barbon, C. Li, S.D. Bercury, D. Armentano, R.J. Desnick, and S.H. Cheng Correction of the biochemical and functional deficits in Fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A Mol Ther 15 2007 492 500
-
(2007)
Mol Ther
, vol.15
, pp. 492-500
-
-
Ziegler, R.J.1
Cherry, M.2
Barbon, C.M.3
Li, C.4
Bercury, S.D.5
Armentano, D.6
Desnick, R.J.7
Cheng, S.H.8
-
19
-
-
0002536238
-
Pathology of mice commonly used in genetic engineering (C57Bl/6;129;B6,129; And FVB/n)
-
J.M. Ward, J.F. Mahler, R.R. Maronpot, J.P. Sundberg, R.M. Frederickson, Iowa State University Press Ames, IA
-
J. Ward, M.R. Anver, J.F. Mahler, and D. Devor-Hennemann Pathology of mice commonly used in genetic engineering (C57Bl/6;129;B6,129; and FVB/n) J.M. Ward, J.F. Mahler, R.R. Maronpot, J.P. Sundberg, R.M. Frederickson, Pathology of Genetically Engineered Mice 2000 Iowa State University Press Ames, IA 161 182
-
(2000)
Pathology of Genetically Engineered Mice
, pp. 161-182
-
-
Ward, J.1
Anver, M.R.2
Mahler, J.F.3
Devor-Hennemann, D.4
-
20
-
-
13044281563
-
Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice
-
T. Ohshima, R. Schiffmann, G.J. Murray, J. Kopp, J.M. Quirk, S. Stahl, C.C. Chan, P. Zerfas, J.H. Tao-Cheng, J.M. Ward, R.O. Brady, and A.B. Kulkarni Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice Proc Natl Acad Sci USA 96 1999 6423 6427
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 6423-6427
-
-
Ohshima, T.1
Schiffmann, R.2
Murray, G.J.3
Kopp, J.4
Quirk, J.M.5
Stahl, S.6
Chan, C.C.7
Zerfas, P.8
Tao-Cheng, J.H.9
Ward, J.M.10
Brady, R.O.11
Kulkarni, A.B.12
-
21
-
-
0347989591
-
Fabry disease: Renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications
-
S.M. Meehan, T. Junsanto, J.J. Rydel, and R.J. Desnick Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications Am J Kidney Dis 43 2004 164 171
-
(2004)
Am J Kidney Dis
, vol.43
, pp. 164-171
-
-
Meehan, S.M.1
Junsanto, T.2
Rydel, J.J.3
Desnick, R.J.4
-
22
-
-
84860258654
-
Colonic involvement in Fabry disease
-
K. Deniz, A. Yurci, A. Yaʇbasan, F. Tekelioʇlu, S. Gursoy, and K. Güven Colonic involvement in Fabry disease Int J Surg Pathol 19 2011 777 778
-
(2011)
Int J Surg Pathol
, vol.19
, pp. 777-778
-
-
Deniz, K.1
Yurci, A.2
Yaʇbasan, A.3
Tekelioʇlu, F.4
Gursoy, S.5
Güven, K.6
-
23
-
-
0025049304
-
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy
-
M. Elleder, V. Bradová, F. Smíd, M. Buděsínský, K. Harzer, B. Kustermann-Kuhn, J. Ledvinová, Bělohlávek, V. Král, and V. Dorazilová Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy Virchows Arch A Pathol Anat Histopathol 417 1990 449 455
-
(1990)
Virchows Arch A Pathol Anat Histopathol
, vol.417
, pp. 449-455
-
-
Elleder, M.1
Bradová, V.2
Smíd, F.3
Buděsínský, M.4
Harzer, K.5
Kustermann-Kuhn, B.6
Ledvinová, J.7
Bělohlávek8
Král, V.9
Dorazilová, V.10
-
24
-
-
0026536265
-
The ultrastructural spectrum of lysosomal storage diseases
-
T.C. Iancu The ultrastructural spectrum of lysosomal storage diseases Ultrastruct Pathol 16 1992 231 244
-
(1992)
Ultrastruct Pathol
, vol.16
, pp. 231-244
-
-
Iancu, T.C.1
-
25
-
-
0035097499
-
A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies
-
C.M. Eng, M. Banikazemi, R.E. Gordon, M. Goldman, R. Phelps, L. Kim, A. Gass, J. Winston, S. Dikman, J.T. Fallon, S. Brodie, C.B. Stacy, D. Mehta, R. Parsons, K. Norton, M. O'Callaghan, and R.J. Desnick A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies Am J Hum Genet 68 2001 711 722
-
(2001)
Am J Hum Genet
, vol.68
, pp. 711-722
-
-
Eng, C.M.1
Banikazemi, M.2
Gordon, R.E.3
Goldman, M.4
Phelps, R.5
Kim, L.6
Gass, A.7
Winston, J.8
Dikman, S.9
Fallon, J.T.10
Brodie, S.11
Stacy, C.B.12
Mehta, D.13
Parsons, R.14
Norton, K.15
O'Callaghan, M.16
Desnick, R.J.17
-
26
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease
-
International Collaborative Fabry Disease Study Group
-
C.M. Eng, N. Guffon, W.R. Wilcox, D.P. Germain, P. Lee, S. Waldek, L. Caplan, G.E. Linthorst, R.J. Desnick International Collaborative Fabry Disease Study Group Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease N Engl J Med 345 2001 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
Caplan, L.7
Linthorst, G.E.8
Desnick, R.J.9
-
27
-
-
0016356297
-
Neuropathological and biochemical studies in Fabry's disease
-
T. Tabira, I. Goto, Y. Kuroiwa, and M. Kikuchi Neuropathological and biochemical studies in Fabry's disease Acta Neuropathol 30 1974 345 354
-
(1974)
Acta Neuropathol
, vol.30
, pp. 345-354
-
-
Tabira, T.1
Goto, I.2
Kuroiwa, Y.3
Kikuchi, M.4
-
28
-
-
57449094948
-
Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice
-
L.G. Rodrigues, M.J. Ferraz, D. Rodrigues, M. Pais-Vieira, D. Lima, R.O. Brady, M.M. Sousa, and M.C. Sá-Miranda Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice Neurobiol Dis 33 2009 48 56
-
(2009)
Neurobiol Dis
, vol.33
, pp. 48-56
-
-
Rodrigues, L.G.1
Ferraz, M.J.2
Rodrigues, D.3
Pais-Vieira, M.4
Lima, D.5
Brady, R.O.6
Sousa, M.M.7
Sá-Miranda, M.C.8
-
29
-
-
23044513293
-
Gastrointestinal manifestations of Fabry disease: Clinical response to enzyme replacement therapy
-
M. Banikazemi, T. Ullman, and R.J. Desnick Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy Mol Genet Metab 85 2005 255 259
-
(2005)
Mol Genet Metab
, vol.85
, pp. 255-259
-
-
Banikazemi, M.1
Ullman, T.2
Desnick, R.J.3
-
31
-
-
33947687663
-
Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
-
C.M. Eng, J. Fletcher, W.R. Wilcox, S. Waldek, C.R. Scott, D.O. Sillence, F. Breunig, J. Charrow, D.P. Germain, K. Nicholls, and M. Banikazemi Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry J Inherit Metab Dis 30 2007 184 192
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 184-192
-
-
Eng, C.M.1
Fletcher, J.2
Wilcox, W.R.3
Waldek, S.4
Scott, C.R.5
Sillence, D.O.6
Breunig, F.7
Charrow, J.8
Germain, D.P.9
Nicholls, K.10
Banikazemi, M.11
-
32
-
-
0029126428
-
A histochemical and electron microscopic study of skeletal and cardiac muscle from a Fabry disease patient and carrier
-
M. Uchino, E. Uyama, H. Kawano, J. Hokamaki, K. Kugiyama, Y. Murakami, H. Yasue, and M. Ando A histochemical and electron microscopic study of skeletal and cardiac muscle from a Fabry disease patient and carrier Acta Neuropathol 90 1995 334 338
-
(1995)
Acta Neuropathol
, vol.90
, pp. 334-338
-
-
Uchino, M.1
Uyama, E.2
Kawano, H.3
Hokamaki, J.4
Kugiyama, K.5
Murakami, Y.6
Yasue, H.7
Ando, M.8
-
33
-
-
34848836985
-
Cellular and tissue localization of globotriaosylceramide in Fabry disease
-
H. Askari, C.R. Kaneski, C. Semino-Mora, P. Desai, A. Ang, D.E. Kleiner, L.T. Perlee, M. Quezado, L.E. Spollen, B.A. Wustman, and R. Schiffmann Cellular and tissue localization of globotriaosylceramide in Fabry disease Virchows Arch 451 2007 823 834
-
(2007)
Virchows Arch
, vol.451
, pp. 823-834
-
-
Askari, H.1
Kaneski, C.R.2
Semino-Mora, C.3
Desai, P.4
Ang, A.5
Kleiner, D.E.6
Perlee, L.T.7
Quezado, M.8
Spollen, L.E.9
Wustman, B.A.10
Schiffmann, R.11
-
34
-
-
44449122715
-
Immunohistologic techniques for detecting the glycolipid Gb(3) in the mouse kidney and nervous system
-
G.L. Kolling, F. Obata, L.K. Gross, and T.G. Obrig Immunohistologic techniques for detecting the glycolipid Gb(3) in the mouse kidney and nervous system Histochem Cell Biol 130 2008 157 164
-
(2008)
Histochem Cell Biol
, vol.130
, pp. 157-164
-
-
Kolling, G.L.1
Obata, F.2
Gross, L.K.3
Obrig, T.G.4
-
35
-
-
4043154034
-
Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors
-
M. Przybylska, I.H. Wu, H. Zhao, R.J. Ziegler, J.D. Tousignant, R.J. Desnick, R.K. Scheule, S.H. Cheng, and N.S. Yew Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors J Gene Med 6 2004 85 92
-
(2004)
J Gene Med
, vol.6
, pp. 85-92
-
-
Przybylska, M.1
Wu, I.H.2
Zhao, H.3
Ziegler, R.J.4
Tousignant, J.D.5
Desnick, R.J.6
Scheule, R.K.7
Cheng, S.H.8
Yew, N.S.9
-
36
-
-
1642455933
-
Sequelae of storage in Fabry disease-pathology and comparison with other lysosomal storage diseases
-
M. Elleder Sequelae of storage in Fabry disease-pathology and comparison with other lysosomal storage diseases Acta Paediatr Suppl 92 2003 46 53
-
(2003)
Acta Paediatr Suppl
, vol.92
, pp. 46-53
-
-
Elleder, M.1
-
37
-
-
2142658758
-
[End-stage cardiac manifestations and autopsy findings in patients with cardiac Fabry disease]
-
Japanese
-
H. Teraguchi, T. Takenaka, A. Yoshida, S. Taguchi, K. Ninomiya, H. Yoshida, M. Horinouchi, S. Yonezawa, S. Nakao, S. Minagoe, and S. Tei [End-stage cardiac manifestations and autopsy findings in patients with cardiac Fabry disease] Japanese J Cardiol 43 2004 98 99
-
(2004)
J Cardiol
, vol.43
, pp. 98-99
-
-
Teraguchi, H.1
Takenaka, T.2
Yoshida, A.3
Taguchi, S.4
Ninomiya, K.5
Yoshida, H.6
Horinouchi, M.7
Yonezawa, S.8
Nakao, S.9
Minagoe, S.10
Tei, S.11
-
38
-
-
84860425284
-
Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease
-
M. Namdar, C. Gebhard, R. Studiger, Y. Shi, P. Mocharla, C. Schmied, P. Brugada, T.F. Luscher, and G.G. Camici Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease PLoS One 7 2012 e36373
-
(2012)
PLoS One
, vol.7
, pp. e36373
-
-
Namdar, M.1
Gebhard, C.2
Studiger, R.3
Shi, Y.4
Mocharla, P.5
Schmied, C.6
Brugada, P.7
Luscher, T.F.8
Camici, G.G.9
-
39
-
-
0019791982
-
The glycosphingolipids of human plasma lipoproteins
-
J.T. Clarke The glycosphingolipids of human plasma lipoproteins Can J Biochem 59 1981 412 417
-
(1981)
Can J Biochem
, vol.59
, pp. 412-417
-
-
Clarke, J.T.1
-
40
-
-
77956839918
-
Neutral glycosphingolipids in human blood: A precise mass spectrometry analysis with special reference to lipoprotein-associated Shiga toxin receptors
-
C.H. Schweppe, P. Hoffmann, J.R. Nofer, G. Pohlentz, M. Mormann, H. Karch, A.W. Friedrich, and J. Müthing Neutral glycosphingolipids in human blood: a precise mass spectrometry analysis with special reference to lipoprotein-associated Shiga toxin receptors J Lipid Res 51 2010 2282 2294
-
(2010)
J Lipid Res
, vol.51
, pp. 2282-2294
-
-
Schweppe, C.H.1
Hoffmann, P.2
Nofer, J.R.3
Pohlentz, G.4
Mormann, M.5
Karch, H.6
Friedrich, A.W.7
Müthing, J.8
-
41
-
-
0021067612
-
Distribution and characterization of the serum lipoproteins and apoproteins in the mouse, Mus musculus
-
M.C. Camus, M.J. Chapman, P. Forgez, and P.M. Laplaud Distribution and characterization of the serum lipoproteins and apoproteins in the mouse, Mus musculus J Lipid Res 24 1983 1210 1228
-
(1983)
J Lipid Res
, vol.24
, pp. 1210-1228
-
-
Camus, M.C.1
Chapman, M.J.2
Forgez, P.3
Laplaud, P.M.4
-
42
-
-
62449248428
-
Shiga toxin 2 targets the murine renal collecting duct epithelium
-
M.A. Psotka, F. Obata, G.L. Kolling, L.K. Gross, M.A. Saleem, S.C. Satchell, P.W. Mathieson, and T.G. Obrig Shiga toxin 2 targets the murine renal collecting duct epithelium Infect Immun 77 2009 959 969
-
(2009)
Infect Immun
, vol.77
, pp. 959-969
-
-
Psotka, M.A.1
Obata, F.2
Kolling, G.L.3
Gross, L.K.4
Saleem, M.A.5
Satchell, S.C.6
Mathieson, P.W.7
Obrig, T.G.8
-
44
-
-
33749629725
-
Fabry disease in mice protects against lethal disease caused by Shiga toxin-expressing enterohemorrhagic Escherichia coli
-
S.A. Cilmi, B.J. Karalius, W. Choy, R.N. Smith, and J.R. Butterton Fabry disease in mice protects against lethal disease caused by Shiga toxin-expressing enterohemorrhagic Escherichia coli J Infect Dis 194 2006 1135 1140
-
(2006)
J Infect Dis
, vol.194
, pp. 1135-1140
-
-
Cilmi, S.A.1
Karalius, B.J.2
Choy, W.3
Smith, R.N.4
Butterton, J.R.5
-
45
-
-
28444444130
-
Murine glycosyltransferases responsible for the expression of globo-series glycolipids: CDNA structures, mRNA expression, and distribution of their products
-
Y. Fujii, S. Numata, Y. Nakamura, T. Honda, K. Furukawa, T. Urano, J. Wiels, M. Uchikawa, N. Ozaki, S. Matsuo, Y. Sugiura, and K. Furukawa Murine glycosyltransferases responsible for the expression of globo-series glycolipids: cDNA structures, mRNA expression, and distribution of their products Glycobiology 15 2005 1257 1267
-
(2005)
Glycobiology
, vol.15
, pp. 1257-1267
-
-
Fujii, Y.1
Numata, S.2
Nakamura, Y.3
Honda, T.4
Furukawa, K.5
Urano, T.6
Wiels, J.7
Uchikawa, M.8
Ozaki, N.9
Matsuo, S.10
Sugiura, Y.11
Furukawa, K.12
-
46
-
-
0033175743
-
Unexplained peculiarities of the dorsal root ganglion
-
M. Devor Unexplained peculiarities of the dorsal root ganglion Pain 82 Suppl 1 1999 S27 S35
-
(1999)
Pain
, vol.82
, pp. S27-S35
-
-
Devor, M.1
-
47
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
M. Spada, S. Pagliardini, M. Yasuda, T. Tukel, G. Thiagarajan, H. Sakuraba, A. Ponzone, and R.J. Desnick High incidence of later-onset Fabry disease revealed by newborn screening Am J Hum Genet 79 2006 31 40
-
(2006)
Am J Hum Genet
, vol.79
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
Tukel, T.4
Thiagarajan, G.5
Sakuraba, H.6
Ponzone, A.7
Desnick, R.J.8
-
48
-
-
84884355929
-
Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation
-
Y.H. Chien, O.A. Bodamer, S.C. Chiang, H. Mascher, C. Hung, and W.L. Hwu Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation J Inherit Metab Dis 36 2013 881 885
-
(2013)
J Inherit Metab Dis
, vol.36
, pp. 881-885
-
-
Chien, Y.H.1
Bodamer, O.A.2
Chiang, S.C.3
Mascher, H.4
Hung, C.5
Hwu, W.L.6
|