-
1
-
-
0000889058
-
α-Galactosidase a deficiency: Fabry disease
-
Scriver CR, Beauder AL, Sly WS, Valle D Eds, 2nd edn, New York USA, McGraw-Hill
-
Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase a deficiency: Fabry disease. In Scriver CR, Beauder AL, Sly WS, Valle D Eds. The metabolic and molecular bases of inherited disease (vol 3; 2nd edn). New York (USA): McGraw-Hill 2001; 3733-74.
-
(2001)
The metabolic and molecular bases of inherited disease
, vol.3
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
2
-
-
0014171084
-
Angiokeratoma corporis diffusum-Fabry's disease
-
Colombi A, Kostyal A, Bracher R, Gloor F, Mazzi R, Tholen H. Angiokeratoma corporis diffusum-Fabry's disease. Helv Med Acta 1967; 34: 67-83.
-
(1967)
Helv Med Acta
, vol.34
, pp. 67-83
-
-
Colombi, A.1
Kostyal, A.2
Bracher, R.3
Gloor, F.4
Mazzi, R.5
Tholen, H.6
-
3
-
-
0036122659
-
Natural history of Fabry renal disease: Influence of α-galactosidase A activity and genetic mutations on clinical course
-
Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, Goldfarb L, Brady RO, Below JE, Austin Iii HA, Kopp JB. Natural history of Fabry renal disease: influence of α-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002; 81: 122-38.
-
(2002)
Medicine (Baltimore)
, vol.81
, pp. 122-138
-
-
Branton, M.H.1
Schiffmann, R.2
Sabnis, S.G.3
Murray, G.J.4
Quirk, J.M.5
Altarescu, G.6
Goldfarb, L.7
Brady, R.O.8
Below, J.E.9
Austin Iii, H.A.10
Kopp, J.B.11
-
4
-
-
0036436320
-
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
-
Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, Desnick RJ, O'Callaghan M. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 2002; 62: 1933-46.
-
(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
-
5
-
-
0036145366
-
Patients with Fabry disease on dialysis in the United States
-
Thadhani R, Wolf M, West ML. Patients with Fabry disease on dialysis in the United States. Kidney Int 2002; 61: 249-55.
-
(2002)
Kidney Int
, vol.61
, pp. 249-255
-
-
Thadhani, R.1
Wolf, M.2
West, M.L.3
-
6
-
-
0034754467
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
-
MacDermot K, Holmes A, Miners A. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001; 11: 769-75.
-
(2001)
J Med Genet
, vol.11
, pp. 769-775
-
-
MacDermot, K.1
Holmes, A.2
Miners, A.3
-
7
-
-
0035811624
-
International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease
-
Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ; 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
Caplan, L.7
Linthorst, G.E.8
Desnick, R.J.9
-
8
-
-
31544456336
-
Long term therapy with agalsidasi alfa for Fabry disease: Safety and effects on renal function in a home infusion setting
-
Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO. Long term therapy with agalsidasi alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 2005; 21: 345-54.
-
(2005)
Nephrol Dial Transplant
, vol.21
, pp. 345-354
-
-
Schiffmann, R.1
Ries, M.2
Timmons, M.3
Flaherty, J.T.4
Brady, R.O.5
-
9
-
-
0036234755
-
Calibration and random variation of the serum creatinine assay as critical elements of using equations to estimate glomerular filtration rate
-
Coresh J, Astor BC, McQuillan G, Kusek J, Greene T, Van Lente F, Levey AS. Calibration and random variation of the serum creatinine assay as critical elements of using equations to estimate glomerular filtration rate. Am J Kidney Dis 2002; 39: 920-9.
-
(2002)
Am J Kidney Dis
, vol.39
, pp. 920-929
-
-
Coresh, J.1
Astor, B.C.2
McQuillan, G.3
Kusek, J.4
Greene, T.5
Van Lente, F.6
Levey, A.S.7
-
10
-
-
0036176161
-
NKF-K/DOQI clinical practice guidelines for chronic kidney disease: Evaluation, classification and stratification
-
National Kidney Foundation
-
National Kidney Foundation. NKF-K/DOQI clinical practice guidelines for chronic kidney disease: evaluation, classification and stratification. Am J Kidney Dis 2002; 39: S1-S266.
-
(2002)
Am J Kidney Dis
, vol.39
-
-
-
11
-
-
0033574249
-
A more accurate method to estimate glomerular filtration rate from serum creatinine: A new prediction equation. Modification of Diet in Renal Disease Study Group
-
Levey AS, Bosch JP, Lewis JB, Greene T, Rogers N, Roth D. A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group. Ann Intern Med 1999; 130: 461-70.
-
(1999)
Ann Intern Med
, vol.130
, pp. 461-470
-
-
Levey, A.S.1
Bosch, J.P.2
Lewis, J.B.3
Greene, T.4
Rogers, N.5
Roth, D.6
-
12
-
-
0016916438
-
Prediction of creatinine clearance from serum creatinine
-
Cockcroft DW, Gault MH. Prediction of creatinine clearance from serum creatinine. Nephron 1976; 16: 31-41.
-
(1976)
Nephron
, vol.16
, pp. 31-41
-
-
Cockcroft, D.W.1
Gault, M.H.2
-
13
-
-
19944368397
-
Using serum creatinine to estimate glomerular filtration rate: Accuracy in good health and in chronic kidney disease
-
Rule AD, Larson TS, Bergstralh EJ, Slezak JM, Jacobsen SJ, Cosio FG. Using serum creatinine to estimate glomerular filtration rate: accuracy in good health and in chronic kidney disease. Ann Intern Med 2004; 141: 929-37.
-
(2004)
Ann Intern Med
, vol.141
, pp. 929-937
-
-
Rule, A.D.1
Larson, T.S.2
Bergstralh, E.J.3
Slezak, J.M.4
Jacobsen, S.J.5
Cosio, F.G.6
-
14
-
-
14844309295
-
Estimating GFR from serum creatinine concentration: Pitfalls of GFR-estimating equations
-
Agarwal R. Estimating GFR from serum creatinine concentration: pitfalls of GFR-estimating equations. Am J Kidney Dis 2005; 45: 610-3.
-
(2005)
Am J Kidney Dis
, vol.45
, pp. 610-613
-
-
Agarwal, R.1
-
15
-
-
0036092338
-
Serum cystatin C reliably detects renal dysfunction in patients with various renal diseases
-
Kazama JJ, Kutsuwada K, Atakata K, Maruyama H, Gejyo F. Serum cystatin C reliably detects renal dysfunction in patients with various renal diseases. Nephron 2002; 91: 13-20.
-
(2002)
Nephron
, vol.91
, pp. 13-20
-
-
Kazama, J.J.1
Kutsuwada, K.2
Atakata, K.3
Maruyama, H.4
Gejyo, F.5
-
16
-
-
0141507021
-
A comparison between cystatin C, plasma creatinine and the Cockcroft and Gault formula for estimation of glomerular filtration rate
-
Hoek F, Kemperman W, Krediet R. A comparison between cystatin C, plasma creatinine and the Cockcroft and Gault formula for estimation of glomerular filtration rate. Nephrol Dial Transplant 2003; 18: 2024-31.
-
(2003)
Nephrol Dial Transplant
, vol.18
, pp. 2024-2031
-
-
Hoek, F.1
Kemperman, W.2
Krediet, R.3
-
17
-
-
26844462213
-
The efficacy of cytatin C assay in the prediction of glomerular filtration rate: Is it a more reliable marker for renal failure?
-
Bicik Z, Bahcebasi T, Kulaksizoghu S, Yavuz O. The efficacy of cytatin C assay in the prediction of glomerular filtration rate: is it a more reliable marker for renal failure? Clin Chem Lab Med 2005; 43: 855-61.
-
(2005)
Clin Chem Lab Med
, vol.43
, pp. 855-861
-
-
Bicik, Z.1
Bahcebasi, T.2
Kulaksizoghu, S.3
Yavuz, O.4
-
18
-
-
0028934503
-
Serum cystatin C measured by automated immunoassay: A more sensitive marker of changes in GFR than serum creatinine
-
Newman DJ, Thakkar H, Edwards RG, Wilkie M, White T, Grubb AO, Price CP. Serum cystatin C measured by automated immunoassay: a more sensitive marker of changes in GFR than serum creatinine. Kidney Int 1995; 312-8.
-
(1995)
Kidney Int
, pp. 312-318
-
-
Newman, D.J.1
Thakkar, H.2
Edwards, R.G.3
Wilkie, M.4
White, T.5
Grubb, A.O.6
Price, C.P.7
-
19
-
-
33644863016
-
Calculation of glomerular filtration rate based on cystatin C in cirrhotic patients
-
Epub Dec 2
-
Poge U, Gerhardt T, Stoffel-Wagner B, Klehr HU, Sauebruch T, Woitas RP. Calculation of glomerular filtration rate based on cystatin C in cirrhotic patients. Nephrol Dial Transplant 2006; 660-4. Epub 2005 Dec 2.
-
(2005)
Nephrol Dial Transplant 2006
, pp. 660-664
-
-
Poge, U.1
Gerhardt, T.2
Stoffel-Wagner, B.3
Klehr, H.U.4
Sauebruch, T.5
Woitas, R.P.6
-
20
-
-
0036231457
-
Cystatin C is a more sensitive marker than creatinine for the estimation of GFR in type 2 diabetic patients
-
Mussap R, Dall Vestra M, Fioretto P, Saller A, Varagnolo M, Nosadini R, Plebani M. Cystatin C is a more sensitive marker than creatinine for the estimation of GFR in type 2 diabetic patients. Kidney Int 2002; 61: 1453-61.
-
(2002)
Kidney Int
, vol.61
, pp. 1453-1461
-
-
Mussap, R.1
Dall Vestra, M.2
Fioretto, P.3
Saller, A.4
Varagnolo, M.5
Nosadini, R.6
Plebani, M.7
-
21
-
-
0034905245
-
Cystatin C is not more sensitive than creatinine for detecting early renal impairment in patients with diabetes
-
Oddose C, Morange S, Portugal H, Berland Y, Dussol B. Cystatin C is not more sensitive than creatinine for detecting early renal impairment in patients with diabetes. Am J Kidney Dis 2001; 38: 310-6.
-
(2001)
Am J Kidney Dis
, vol.38
, pp. 310-316
-
-
Oddose, C.1
Morange, S.2
Portugal, H.3
Berland, Y.4
Dussol, B.5
-
22
-
-
0036069388
-
Serum cystatin C concentration compared with others markers of glomerular filtration rate in the old
-
Van Den Noortgate NJ, Janssens WH, Delanghe JR, Afschrift MB, Lamiere NH. Serum cystatin C concentration compared with others markers of glomerular filtration rate in the old. J Am Geriatr Soc 2002; 50: 1278-82.
-
(2002)
J Am Geriatr Soc
, vol.50
, pp. 1278-1282
-
-
Van Den Noortgate, N.J.1
Janssens, W.H.2
Delanghe, J.R.3
Afschrift, M.B.4
Lamiere, N.H.5
-
23
-
-
0036227238
-
Serum cystatin C is not a better marker of creatinine or digoxin clearance than serum creatinine
-
O'Riordan S, Ouldred E, Brice S, Jackson HD, Swift CG. Serum cystatin C is not a better marker of creatinine or digoxin clearance than serum creatinine. Br J Clin Pharmacol 2002; 53: 398-402.
-
(2002)
Br J Clin Pharmacol
, vol.53
, pp. 398-402
-
-
O'Riordan, S.1
Ouldred, E.2
Brice, S.3
Jackson, H.D.4
Swift, C.G.5
-
24
-
-
0036329067
-
Serum cystatin C is superior to serum creatinine as a marker of kidney function: A meta-analysis
-
Dharhidharka V, Kwon C, Stevens G. Serum cystatin C is superior to serum creatinine as a marker of kidney function: a meta-analysis. Am J Kidney Dis 2002; 40: 221-6.
-
(2002)
Am J Kidney Dis
, vol.40
, pp. 221-226
-
-
Dharhidharka, V.1
Kwon, C.2
Stevens, G.3
-
25
-
-
33645903888
-
Estimating glomerular filtration rate in kidney transplantation: A comparison between serum creatinine and cystatin C-based methods
-
White C, Akbari A, Hussain N, Dinh L, Filler G, Lepage N, knoll GA. Estimating glomerular filtration rate in kidney transplantation: a comparison between serum creatinine and cystatin C-based methods. J Am Soc Nephrol 2005; 16: 3763-70.
-
(2005)
J Am Soc Nephrol
, vol.16
, pp. 3763-3770
-
-
White, C.1
Akbari, A.2
Hussain, N.3
Dinh, L.4
Filler, G.5
Lepage, N.6
knoll, G.A.7
-
26
-
-
23944450684
-
Detection of renal function decline in patients with diabetes and normal or elevated GFR by serial measurement of serum cystatin C concentration: Results of a 4-year follow-up study
-
Perkins BA, Nelson RG, Ostrander BE, Blouch KL, Krolewski AS, Myers BD, Warram JH. Detection of renal function decline in patients with diabetes and normal or elevated GFR by serial measurement of serum cystatin C concentration: results of a 4-year follow-up study. J Am Soc Nephrol 2005; 16: 1404-12.
-
(2005)
J Am Soc Nephrol
, vol.16
, pp. 1404-1412
-
-
Perkins, B.A.1
Nelson, R.G.2
Ostrander, B.E.3
Blouch, K.L.4
Krolewski, A.S.5
Myers, B.D.6
Warram, J.H.7
-
27
-
-
0036228259
-
Cystatin C: An improved estimator of glomerular filtration rate?
-
Laterza OF, Price CP, Scott MG. Cystatin C: an improved estimator of glomerular filtration rate? Clin Chem 2002; 48: 699-707.
-
(2002)
Clin Chem
, vol.48
, pp. 699-707
-
-
Laterza, O.F.1
Price, C.P.2
Scott, M.G.3
-
28
-
-
0022647276
-
Analytical reviews in chemical biochemistry: The estimation of creatinine
-
Spencer K. Analytical reviews in chemical biochemistry: the estimation of creatinine. Ann Clin Biochem 1986; 23: 1-25.
-
(1986)
Ann Clin Biochem
, vol.23
, pp. 1-25
-
-
Spencer, K.1
-
29
-
-
0022372166
-
Limitations of cretinine as a filtration marker in glomerulopathic patients
-
Shemesh O, Golbetz H, Kriss JP, Myer BD. Limitations of cretinine as a filtration marker in glomerulopathic patients. Kidney Int 1985; 28: 830-8.
-
(1985)
Kidney Int
, vol.28
, pp. 830-838
-
-
Shemesh, O.1
Golbetz, H.2
Kriss, J.P.3
Myer, B.D.4
-
31
-
-
3142554529
-
International Fabry Disease Study Group. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
-
Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP; International Fabry Disease Study Group. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004; 75: 65-74.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 65-74
-
-
Wilcox, W.R.1
Banikazemi, M.2
Guffon, N.3
Waldek, S.4
Lee, P.5
Linthorst, G.E.6
Desnick, R.J.7
Germain, D.P.8
-
33
-
-
0842347351
-
Commentary: Clinical diagnostic use of cytatin C
-
Massey D. Commentary: clinical diagnostic use of cytatin C. J Clin Lab Anal 2004; 18: 55-60.
-
(2004)
J Clin Lab Anal
, vol.18
, pp. 55-60
-
-
Massey, D.1
-
34
-
-
33644642582
-
Glomerular filtration rate estimated by cystatin C among different clinical presentation
-
Rule AD, Bergstralh EJ, Slezak JM, Bergert J, Larson TS. Glomerular filtration rate estimated by cystatin C among different clinical presentation. Kidney Int 2006; 69: 399-405.
-
(2006)
Kidney Int
, vol.69
, pp. 399-405
-
-
Rule, A.D.1
Bergstralh, E.J.2
Slezak, J.M.3
Bergert, J.4
Larson, T.S.5
-
35
-
-
0242585385
-
Impact of thyroid function on serum cystatin C
-
Fricker M, Wiesli P, Branble M, Schwegler B, Schmid C. Impact of thyroid function on serum cystatin C. Kidney Int 2003; 63: 1944-7.
-
(2003)
Kidney Int
, vol.63
, pp. 1944-1947
-
-
Fricker, M.1
Wiesli, P.2
Branble, M.3
Schwegler, B.4
Schmid, C.5
-
36
-
-
0033545192
-
Consistent reversible elevations of serum creatinine levels in severe hypothyroidism
-
Kreisman SH, Hennessey JV. Consistent reversible elevations of serum creatinine levels in severe hypothyroidism. Arch Intern Med 1999; 159: 79-82.
-
(1999)
Arch Intern Med
, vol.159
, pp. 79-82
-
-
Kreisman, S.H.1
Hennessey, J.V.2
-
37
-
-
0030823748
-
Serum creatine, creatinine, and other guanidino compounds in patients with thyroid dysfunction
-
Verhelst J, Berwaerts J, Marescau B, Abs R, Neels H, Mahler C. Serum creatine, creatinine, and other guanidino compounds in patients with thyroid dysfunction. Metabolism 1997; 46: 1063-7.
-
(1997)
Metabolism
, vol.46
, pp. 1063-1067
-
-
Verhelst, J.1
Berwaerts, J.2
Marescau, B.3
Abs, R.4
Neels, H.5
Mahler, C.6
-
38
-
-
0028395580
-
Possible thyroidal involvement in a case of Fabry disease
-
Tojo K, Oota M, Honda H, Shibasaki T, Sakai O. Possible thyroidal involvement in a case of Fabry disease. Intern Med 1994; 33: 172-6.
-
(1994)
Intern Med
, vol.33
, pp. 172-176
-
-
Tojo, K.1
Oota, M.2
Honda, H.3
Shibasaki, T.4
Sakai, O.5
-
39
-
-
1642364011
-
Angiotensin-converting enzyme inhibitors and angiotensin receptor blockers in chronic renal disease: Safety issues
-
Mangrum A, Bakris G. Angiotensin-converting enzyme inhibitors and angiotensin receptor blockers in chronic renal disease: safety issues. Semin Nephrol 2004; 24; 168-75.
-
(2004)
Semin Nephrol
, vol.24
, pp. 168-175
-
-
Mangrum, A.1
Bakris, G.2
-
40
-
-
36049017074
-
Agalsidase alfa prevents the decline in renal function in patients with Fabry disease
-
Schwarting A, Dehout F, Feriozzi S, Beck M, Metha A, Sunder-Plasmann G. Agalsidase alfa prevents the decline in renal function in patients with Fabry disease. Nephrol Dial Transplant 2005; 20 (Suppl 5): 248A.
-
(2005)
Nephrol Dial Transplant
, vol.20
, Issue.SUPPL. 5
-
-
Schwarting, A.1
Dehout, F.2
Feriozzi, S.3
Beck, M.4
Metha, A.5
Sunder-Plasmann, G.6
|