-
1
-
-
84980085880
-
A case of angiokeratoma
-
Anderson WA. A case of angiokeratoma. Br J Dermatol. 1898;18:113-117.
-
(1898)
Br J Dermatol
, vol.18
, pp. 113-117
-
-
Anderson, W.A.1
-
2
-
-
34447607076
-
Ein Betrag zur Kenntnis der Ppurpura hammarrhagica nodularis
-
Fabry J. Ein Betrag zur Kenntnis der Ppurpura hammarrhagica nodularis. Arch Dermatol Syphilol. 1898;43:187-200.
-
(1898)
Arch Dermatol Syphilol
, vol.43
, pp. 187-200
-
-
Fabry, J.1
-
3
-
-
0014216741
-
Enzymatic defect in Fabry's disease: Ceramidetrihexosidase deficiency
-
Brady RO, Gal AE, Bradley RM, et al. Enzymatic defect in Fabry's disease: ceramidetrihexosidase deficiency. N Engl J Med. 1967;276:1163-1167.
-
(1967)
N Engl J Med
, vol.276
, pp. 1163-1167
-
-
Brady, R.O.1
Gal, A.E.2
Bradley, R.M.3
-
4
-
-
0014964372
-
Fabry's disease: Alpha-galactosidase deficiency
-
Kint JA. Fabry's disease: alpha-galactosidase deficiency. Science. 1970;167:1268-1269.
-
(1970)
Science
, vol.167
, pp. 1268-1269
-
-
Kint, J.A.1
-
5
-
-
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
-
6
-
-
53749104902
-
Fabry's disease
-
Zarate YA, Hopkin RJ. Fabry's disease. Lancet. 2008;372:1427-1435.
-
(2008)
Lancet
, vol.372
, pp. 1427-1435
-
-
Zarate, Y.A.1
Hopkin, R.J.2
-
7
-
-
0034766525
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
-
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations 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
-
8
-
-
0034754467
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
-
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001;38:769-775.
-
(2001)
J Med Genet
, vol.38
, pp. 769-775
-
-
Macdermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
9
-
-
67651123138
-
Fabry disease: Progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
-
Schiffmann R, Warnock DG, Banikazemi M, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009;24:2102-2111.
-
(2009)
Nephrol Dial Transplant
, vol.24
, pp. 2102-2111
-
-
Schiffmann, R.1
Warnock, D.G.2
Banikazemi, M.3
-
10
-
-
33846908304
-
Agalsidase-beta therapy for advanced Fabry disease: A randomized trial
-
Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007;146:77-86.
-
(2007)
Ann Intern Med
, vol.146
, pp. 77-86
-
-
Banikazemi, M.1
Bultas, J.2
Waldek, S.3
-
11
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001;285:2743-2749.
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin III, H.A.3
-
12
-
-
0035097499
-
A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies
-
Eng CM, Banikazemi M, Gordon RE, et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet. 2001;68:711-722.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 711-722
-
-
Eng, C.M.1
Banikazemi, M.2
Gordon, R.E.3
-
13
-
-
34248138939
-
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing
-
Schiffmann R, Askari H, Timmons M, et al. Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J Am Soc Nephrol. 2007;18:1576-1583.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1576-1583
-
-
Schiffmann, R.1
Askari, H.2
Timmons, M.3
-
14
-
-
0015583864
-
Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes: Alphagalactosidase activities in plasma, serum, urine, and leukocytes
-
Desnick RJ, Allen KY, Desnick SJ, et al. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes: alphagalactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med. 1973;81:157-171.
-
(1973)
J Lab Clin Med
, vol.81
, pp. 157-171
-
-
Desnick, R.J.1
Allen, K.Y.2
Desnick, S.J.3
-
15
-
-
0034970245
-
Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper
-
Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta. 2001;308:195-196.
-
(2001)
Clin Chim Acta
, vol.308
, pp. 195-196
-
-
Chamoles, N.A.1
Blanco, M.2
Gaggioli, D.3
-
16
-
-
20544450120
-
Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry
-
Kitagawa T, Ishige N, Suzuki K, et al. Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry. Mol Genet Metab. 2005;85:196-202.
-
(2005)
Mol Genet Metab
, vol.85
, pp. 196-202
-
-
Kitagawa, T.1
Ishige, N.2
Suzuki, K.3
-
17
-
-
20844448872
-
Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide
-
Whitfield PD, Calvin J, Hogg S, et al. Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide. J Inherit Metab Dis. 2005;28:21-33.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 21-33
-
-
Whitfield, P.D.1
Calvin, J.2
Hogg, S.3
-
18
-
-
47749085854
-
Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes
-
Kitagawa T, Suzuki K, Ishige N, et al. Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes. Pediatr Nephrol. 2008;23:1461-1471.
-
(2008)
Pediatr Nephrol
, vol.23
, pp. 1461-1471
-
-
Kitagawa, T.1
Suzuki, K.2
Ishige, N.3
-
19
-
-
16844377475
-
Is globotriaosylceramide a useful biomarker in Fabry disease?
-
[discussion: 37-38]
-
Young E, Mills K, Morris P, et al. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl. 2005;94:51-54 [discussion: 37-38].
-
(2005)
Acta Paediatr Suppl
, vol.94
, pp. 51-54
-
-
Young, E.1
Mills, K.2
Morris, P.3
-
20
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 2008;105:2812-2817.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 2812-2817
-
-
Aerts, J.M.1
Groener, J.E.2
Kuiper, S.3
-
21
-
-
38849109999
-
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
-
Auray-Blais C, Cyr D, Ntwari A, et al. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Genet Metab. 2008;93:331-340.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 331-340
-
-
Auray-Blais, C.1
Cyr, D.2
Ntwari, A.3
-
22
-
-
67649668920
-
Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6 months
-
Barr C, Clarke JT, Ntwari A, Drouin R, Auray-Blais C. Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6 months. Mol Genet Metab. 2009;97:278-283.
-
(2009)
Mol Genet Metab
, vol.97
, pp. 278-283
-
-
Barr, C.1
Clarke, J.T.2
Ntwari, A.3
Drouin, R.4
Auray-Blais, C.5
-
23
-
-
34548474768
-
Antiproteinuric therapy and Fabry nephropathy: Sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase- beta
-
Tahir H, Jackson LL, Warnock DG. Antiproteinuric therapy and Fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase- beta. J Am Soc Nephrol. 2007;18:2609-2617.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 2609-2617
-
-
Tahir, H.1
Jackson, L.L.2
Warnock, D.G.3
-
24
-
-
0035743293
-
Urinary podocytes in primary focal segmental glomerulosclerosis
-
Hara M, Yanagihara T, Kihara I. Urinary podocytes in primary focal segmental glomerulosclerosis. Nephron. 2001;89:342-347.
-
(2001)
Nephron
, vol.89
, pp. 342-347
-
-
Hara, M.1
Yanagihara, T.2
Kihara, I.3
-
25
-
-
33947647864
-
Urinary podocyte excretion as a marker for preeclampsia
-
Garovic VD, Wagner SJ, Turner ST, et al. Urinary podocyte excretion as a marker for preeclampsia. Am J Obstet Gynecol. 2007;196:320-327.
-
(2007)
Am J Obstet Gynecol
, vol.196
, pp. 320-327
-
-
Garovic, V.D.1
Wagner, S.J.2
Turner, S.T.3
-
26
-
-
0033950217
-
Profile of endothelial and leukocyte activation in Fabry patients
-
DeGraba T, Azhar S, Dignat-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol. 2000;47:229-233.
-
(2000)
Ann Neurol
, vol.47
, pp. 229-233
-
-
Degraba, T.1
Azhar, S.2
Dignat-George, F.3
-
27
-
-
33646691525
-
Increased carotid intimamedia thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease
-
Barbey F, Brakch N, Linhart A, et al. Increased carotid intimamedia thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease. Acta Paediatr Suppl. 2006;95:63-68.
-
(2006)
Acta Paediatr Suppl
, vol.95
, pp. 63-68
-
-
Barbey, F.1
Brakch, N.2
Linhart, A.3
-
29
-
-
0035226437
-
Towards defining the urinary proteome using liquid chromatography-tandem mass spectrometry: Part II: Limitations of complex mixture analyses
-
Davis MT, Spahr CS, McGinley MD, et al. Towards defining the urinary proteome using liquid chromatography-tandem mass spectrometry: Part II: limitations of complex mixture analyses. Proteomics. 2001;1:108-117.
-
(2001)
Proteomics
, vol.1
, pp. 108-117
-
-
Davis, M.T.1
Spahr, C.S.2
McGinley, M.D.3
-
30
-
-
0036523738
-
Biomarker discovery in urine by proteomics
-
Pang JX, Ginanni N, Dongre AR, Hefta SA, Opitek GJ. Biomarker discovery in urine by proteomics. J Proteome Res. 2002;1:161-169.
-
(2002)
J Proteome Res
, vol.1
, pp. 161-169
-
-
Pang, J.X.1
Ginanni, N.2
Dongre, A.R.3
Hefta, S.A.4
Opitek, G.J.5
-
31
-
-
0036379687
-
Proteomic analysis of normal human urinary proteins isolated by acetone precipitation or ultracentrifugation
-
Thongboonkerd V, McLeish KR, Arthur JM, Klein JB. Proteomic analysis of normal human urinary proteins isolated by acetone precipitation or ultracentrifugation. Kidney Int. 2002;62:1461-1469.
-
(2002)
Kidney Int
, vol.62
, pp. 1461-1469
-
-
Thongboonkerd, V.1
McLeish, K.R.2
Arthur, J.M.3
Klein, J.B.4
-
32
-
-
4444226979
-
Identification and proteomic profiling of exosomes in human urine
-
Pisitkun T, Shen RF, Knepper MA. Identification and proteomic profiling of exosomes in human urine. Proc Natl Acad Sci U S A. 2004;101:13368-13373.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 13368-13373
-
-
Pisitkun, T.1
Shen, R.F.2
Knepper, M.A.3
-
33
-
-
29144495950
-
Exploring the hidden human urinary proteome via ligand library beads
-
Castagna A, Cecconi D, Sennels L, et al. Exploring the hidden human urinary proteome via ligand library beads. J Proteome Res. 2005;4:1917-1930.
-
(2005)
J Proteome Res
, vol.4
, pp. 1917-1930
-
-
Castagna, A.1
Cecconi, D.2
Sennels, L.3
-
35
-
-
77949824222
-
Comparison of different depletion strategies for improving resolution of the human urine proteome
-
Magagnotti C, Fermo I, Carletti RM, Ferrari M, Bachi A. Comparison of different depletion strategies for improving resolution of the human urine proteome. Clin Chem Lab Med. 2010;48:531-535.
-
(2010)
Clin Chem Lab Med
, vol.48
, pp. 531-535
-
-
Magagnotti, C.1
Fermo, I.2
Carletti, R.M.3
Ferrari, M.4
Bachi, A.5
-
36
-
-
0036583926
-
Stable isotope labeling by amino acids in cell culture, SILAC, as a simple and accurate approach to expression proteomics
-
Ong SE, Blagoev B, Kratchmarova I, et al. Stable isotope labeling by amino acids in cell culture, SILAC, as a simple and accurate approach to expression proteomics. Mol Cell Proteomics. 2002;1:376-386.
-
(2002)
Mol Cell Proteomics
, vol.1
, pp. 376-386
-
-
Ong, S.E.1
Blagoev, B.2
Kratchmarova, I.3
-
37
-
-
0032875697
-
Quantitative analysis of complex protein mixtures using isotope-coded affinity tags
-
Gygi SP, Rist B, Gerber SA, et al. Quantitative analysis of complex protein mixtures using isotope-coded affinity tags. Nat Biotechnol. 1999;17:994-999.
-
(1999)
Nat Biotechnol
, vol.17
, pp. 994-999
-
-
Gygi, S.P.1
Rist, B.2
Gerber, S.A.3
-
38
-
-
0035384687
-
Proteolytic 18O labeling for comparative proteomics: Model studies with two serotypes of adenovirus
-
Yao X, Freas A, Ramirez J, Demirev PA, Fenselau C. Proteolytic 18O labeling for comparative proteomics: model studies with two serotypes of adenovirus. Anal Chem. 2001;73:2836-2842.
-
(2001)
Anal Chem
, vol.73
, pp. 2836-2842
-
-
Yao, X.1
Freas, A.2
Ramirez, J.3
Demirev, P.A.4
Fenselau, C.5
-
39
-
-
19944432197
-
Multiplexed protein quantitation in Saccharomyces cerevisiae using aminereactive isobaric tagging reagents
-
Ross PL, Huang YN, Marchese JN, et al. Multiplexed protein quantitation in Saccharomyces cerevisiae using aminereactive isobaric tagging reagents. Mol Cell Proteomics. 2004;3:1154-1169.
-
(2004)
Mol Cell Proteomics
, vol.3
, pp. 1154-1169
-
-
Ross, P.L.1
Huang, Y.N.2
Marchese, J.N.3
-
40
-
-
0017184389
-
A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
-
Bradford MM. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Chem. 1976;72:248-254.
-
(1976)
Anal Chem
, vol.72
, pp. 248-254
-
-
Bradford, M.M.1
-
41
-
-
71049147061
-
Proteomics analysis of nucleolar SUMO-1 target proteins upon proteasome inhibition
-
Matafora V, D'Amato A, Mori S, Blasi F, Bachi A. Proteomics analysis of nucleolar SUMO-1 target proteins upon proteasome inhibition. Mol Cell Proteomics. 2009;8:2243-2255.
-
(2009)
Mol Cell Proteomics
, vol.8
, pp. 2243-2255
-
-
Matafora, V.1
D'Amato, A.2
Mori, S.3
Blasi, F.4
Bachi, A.5
-
42
-
-
67449088495
-
Proteomics and pathway analysis identifies JNK signaling as critical for high linear energy transfer radiation-induced apoptosis in non-small lung cancer cells
-
Stahl S, Fung E, Adams C, et al. Proteomics and pathway analysis identifies JNK signaling as critical for high linear energy transfer radiation-induced apoptosis in non-small lung cancer cells. Mol Cell Proteomics. 2009;8:1117-1129.
-
(2009)
Mol Cell Proteomics
, vol.8
, pp. 1117-1129
-
-
Stahl, S.1
Fung, E.2
Adams, C.3
-
43
-
-
0016711037
-
High resolution two-dimensional electrophoresis of proteins
-
O'Farrell PH. High resolution two-dimensional electrophoresis of proteins. J Biol Chem. 1975;250:4007-4021.
-
(1975)
J Biol Chem
, vol.250
, pp. 4007-4021
-
-
O'Farrell, P.H.1
-
44
-
-
33750718487
-
Repetitive fragmentation products of albumin and alpha1-antitrypsin in glomerular diseases associated with nephrotic syndrome
-
Candiano G, Musante L, Bruschi M, et al. Repetitive fragmentation products of albumin and alpha1-antitrypsin in glomerular diseases associated with nephrotic syndrome. J Am Soc Nephrol. 2006;17:3139-3148.
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 3139-3148
-
-
Candiano, G.1
Musante, L.2
Bruschi, M.3
-
45
-
-
71649111830
-
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: An analysis of registry data
-
Mehta A, Beck M, Elliott P, et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet. 2009;374:1986-1996.
-
(2009)
Lancet
, vol.374
, pp. 1986-1996
-
-
Mehta, A.1
Beck, M.2
Elliott, P.3
-
47
-
-
33847327950
-
Proteomics of specific treatment-related alterations in Fabry disease: A strategy to identify biological abnormalities
-
Moore DF, Krokhin OV, Beavis RC, et al. Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities. Proc Natl Acad Sci U S A. 2007;104:2873-2878.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 2873-2878
-
-
Moore, D.F.1
Krokhin, O.V.2
Beavis, R.C.3
-
48
-
-
50149103246
-
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
-
Vylet'al P, Hulkova H, Zivna M, et al. Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy. J Inherit Metab Dis. 2008;31:508-517.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 508-517
-
-
Vylet'al, P.1
Hulkova, H.2
Zivna, M.3
|