-
1
-
-
46049107676
-
Nephropathic cystinosis: Late complications of a multisystemic disease
-
E-pub ahead of print
-
Nesterova G, Gahl W: Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol 2007, E-pub ahead of print.
-
(2007)
Pediatr Nephrol
-
-
Nesterova, G.1
Gahl, W.2
-
4
-
-
34548432080
-
Nephropathic cystinosis in adults: Natural history and effects of oral cysteamine therapy
-
Gahl WA, Balog JZ, Kleta R: Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med 2007;147:242-250.
-
(2007)
Ann Intern Med
, vol.147
, pp. 242-250
-
-
Gahl, W.A.1
Balog, J.Z.2
Kleta, R.3
-
5
-
-
8544282463
-
Pharmacological treatment of nephropathic cystinosis with cysteamine
-
Kleta R, Gahl WA: Pharmacological treatment of nephropathic cystinosis with cysteamine. Expert Opin Pharmacother 2004;5:2255-2262.
-
(2004)
Expert Opin Pharmacother
, vol.5
, pp. 2255-2262
-
-
Kleta, R.1
Gahl, W.A.2
-
6
-
-
0036066267
-
Cystinosis: Antibodies and healthy bodies
-
Kleta R, Gahl WA: Cystinosis: antibodies and healthy bodies. J Am Soc Nephrol 2002;13:2189-2191.
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2189-2191
-
-
Kleta, R.1
Gahl, W.A.2
-
7
-
-
33744931367
-
Understanding intestinal cysteamine bitartrate absorption
-
Dohil R, Fidler M, Barshop BA, Gangoiti J, Deutsch R, Martin M, Schneider JA: Understanding intestinal cysteamine bitartrate absorption. J Pediatr 2006;148:764-769.
-
(2006)
J Pediatr
, vol.148
, pp. 764-769
-
-
Dohil, R.1
Fidler, M.2
Barshop, B.A.3
Gangoiti, J.4
Deutsch, R.5
Martin, M.6
Schneider, J.A.7
-
8
-
-
0034535728
-
The bone marrow in hereditary cystinosis
-
Busuttil DP, Liu Yin JA: The bone marrow in hereditary cystinosis. Br J Haematol 2000;111:385.
-
(2000)
Br J Haematol
, vol.111
, pp. 385
-
-
Busuttil, D.P.1
Liu Yin, J.A.2
-
10
-
-
2342599110
-
Bone marrow findings in hereditary cystinosis with renal failure
-
Quinn JP, Royston D, Murphy PT: Bone marrow findings in hereditary cystinosis with renal failure. Am J Hematol 2004;76:79.
-
(2004)
Am J Hematol
, vol.76
, pp. 79
-
-
Quinn, J.P.1
Royston, D.2
Murphy, P.T.3
-
11
-
-
33845886401
-
Nephropathic cystinosis with bone marrow involvement
-
Bigley V, Bhartia S, Wood A: Nephropathic cystinosis with bone marrow involvement. Br J Haematol 2007;136:180.
-
(2007)
Br J Haematol
, vol.136
, pp. 180
-
-
Bigley, V.1
Bhartia, S.2
Wood, A.3
-
13
-
-
33947272957
-
Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever
-
Haase M, Morgera S, Bamberg C, Halle H, Martini S, Dragun D, Neumayer HH, Budde K: Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever. J Nephrol 2006;19:677-681.
-
(2006)
J Nephrol
, vol.19
, pp. 677-681
-
-
Haase, M.1
Morgera, S.2
Bamberg, C.3
Halle, H.4
Martini, S.5
Dragun, D.6
Neumayer, H.H.7
Budde, K.8
-
14
-
-
24644521152
-
High cystine in platelets from patients with nephropathic cystinosis: A chemical, ultrastructural, and functional evaluation
-
Olcay L, Erdemli E, Kesimer M, Buyukasik Y, Okur H, Kalkanoglu HS, Coskun T, Altay C: High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation. J Clin Pathol 2005;58:939-945.
-
(2005)
J Clin Pathol
, vol.58
, pp. 939-945
-
-
Olcay, L.1
Erdemli, E.2
Kesimer, M.3
Buyukasik, Y.4
Okur, H.5
Kalkanoglu, H.S.6
Coskun, T.7
Altay, C.8
-
15
-
-
24044529187
-
Altered status of glutathione and its metabolites in cystinotic cells
-
Levtchenko E, de Graaf-Hess A, Wilmer M, van den Heuvel L, Monnens L, Blom H: Altered status of glutathione and its metabolites in cystinotic cells. Nephrol Dial Transplant 2005;20:1828-1832.
-
(2005)
Nephrol Dial Transplant
, vol.20
, pp. 1828-1832
-
-
Levtchenko, E.1
de Graaf-Hess, A.2
Wilmer, M.3
van den Heuvel, L.4
Monnens, L.5
Blom, H.6
-
16
-
-
0022383325
-
Long-term treatment of infantile nephropathic cystinosis with cysteamine
-
da Silva VA, Zurbrugg RP, Lavanchy P, Blumberg A, Suter H, Wyss SR, Luthy CM, Oetliker OH: Long-term treatment of infantile nephropathic cystinosis with cysteamine. N Engl J Med 1985;313:1460-1463.
-
(1985)
N Engl J Med
, vol.313
, pp. 1460-1463
-
-
da Silva, V.A.1
Zurbrugg, R.P.2
Lavanchy, P.3
Blumberg, A.4
Suter, H.5
Wyss, S.R.6
Luthy, C.M.7
Oetliker, O.H.8
-
17
-
-
0027478064
-
Improved renal function in children with cystinosis treated with cysteamine
-
Markello TC, Bernardini IM, Gahl WA: Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med 1993;328:1157-1162.
-
(1993)
N Engl J Med
, vol.328
, pp. 1157-1162
-
-
Markello, T.C.1
Bernardini, I.M.2
Gahl, W.A.3
-
18
-
-
0029865229
-
Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine
-
Broyer M, Tete MJ, Guest G, Bertheleme JP, Labrousse F, Poisson M: Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine. J Inherit Metab Dis 1996;19:65-75.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 65-75
-
-
Broyer, M.1
Tete, M.J.2
Guest, G.3
Bertheleme, J.P.4
Labrousse, F.5
Poisson, M.6
-
19
-
-
0027105176
-
Parenchymal organ cystine depletion with long-term cysteamine therapy
-
Gahl WA, Charnas L, Markello TC, Bernardini I, Ishak KG, Dalakas MC: Parenchymal organ cystine depletion with long-term cysteamine therapy. Biochem Med Metab Biol 1992;48:275-285.
-
(1992)
Biochem Med Metab Biol
, vol.48
, pp. 275-285
-
-
Gahl, W.A.1
Charnas, L.2
Markello, T.C.3
Bernardini, I.4
Ishak, K.G.5
Dalakas, M.C.6
-
20
-
-
0028846636
-
Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis
-
Kimonis VE, Troendle J, Rose SR, Yang ML, Markello TC, Gahl WA: Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. J Clin Endocrinol Metab 1995;80:3257-3261.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 3257-3261
-
-
Kimonis, V.E.1
Troendle, J.2
Rose, S.R.3
Yang, M.L.4
Markello, T.C.5
Gahl, W.A.6
-
21
-
-
18744364173
-
Swallowing dysfunction in 101 patients with nephropathic cystinosis: Benefit of long-term cysteamine therapy
-
Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA: Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy. Medicine (Baltimore) 2005;84:137-146.
-
(2005)
Medicine (Baltimore)
, vol.84
, pp. 137-146
-
-
Sonies, B.C.1
Almajid, P.2
Kleta, R.3
Bernardini, I.4
Gahl, W.A.5
-
22
-
-
34548828564
-
Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation
-
Ueda M, O'Brien K, Rosing DR, Ling A, Kleta R, McAreavey D, Bernardini I, Gahl WA: Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. Clin J Am Soc Nephrol 2006;1:555-562.
-
(2006)
Clin J Am Soc Nephrol
, vol.1
, pp. 555-562
-
-
Ueda, M.1
O'Brien, K.2
Rosing, D.R.3
Ling, A.4
Kleta, R.5
McAreavey, D.6
Bernardini, I.7
Gahl, W.A.8
-
23
-
-
33646942145
-
Nephropathic cystinosis: Posterior segment manifestations and effects of cysteamine therapy
-
Tsilou ET, Rubin BI, Reed G, Caruso RC, Iwata F, Balog J, Gahl WA, Kaiser-Kupfer MI: Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy. Ophthalmology 2006;113:1002-1009.
-
(2006)
Ophthalmology
, vol.113
, pp. 1002-1009
-
-
Tsilou, E.T.1
Rubin, B.I.2
Reed, G.3
Caruso, R.C.4
Iwata, F.5
Balog, J.6
Gahl, W.A.7
Kaiser-Kupfer, M.I.8
-
24
-
-
5144225376
-
Long-term follow-up of well-treated nephropathic cystinosis patients
-
Kleta R, Bernardini I, Ueda M, Varade WS, Phornphutkul C, Krasnewich D, Gahl WA: Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr 2004;145:555-560.
-
(2004)
J Pediatr
, vol.145
, pp. 555-560
-
-
Kleta, R.1
Bernardini, I.2
Ueda, M.3
Varade, W.S.4
Phornphutkul, C.5
Krasnewich, D.6
Gahl, W.A.7
-
25
-
-
0037233107
-
A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis
-
Tsilou ET, Thompson D, Lindblad AS, Reed GF, Rubin B, Gahl W, Thoene J, Del Monte M, Schneider JA, Granet DB, Kaiser-Kupfer MI: A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis. Br J Ophthalmol 2003;87:28-31.
-
(2003)
Br J Ophthalmol
, vol.87
, pp. 28-31
-
-
Tsilou, E.T.1
Thompson, D.2
Lindblad, A.S.3
Reed, G.F.4
Rubin, B.5
Gahl, W.6
Thoene, J.7
Del Monte, M.8
Schneider, J.A.9
Granet, D.B.10
Kaiser-Kupfer, M.I.11
-
26
-
-
0033808653
-
Corneal crystals in nephropathic cystinosis: Natural history and treatment with cysteamine eyedrops
-
Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI: Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Mol Genet Metab 2000;71:100-120.
-
(2000)
Mol Genet Metab
, vol.71
, pp. 100-120
-
-
Gahl, W.A.1
Kuehl, E.M.2
Iwata, F.3
Lindblad, A.4
Kaiser-Kupfer, M.I.5
|