-
1
-
-
67651114065
-
Urinary proteome pattern in children with renal Fanconi syndrome
-
19225019 10.1093/ndt/gfp063 1:CAS:528:DC%2BD1MXnslKjsL4%3D
-
Drube J, Schiffer E, Mischak H, Kemper MJ, Neuhaus T, Pape L, Lichtinghagen R, Ehrich JH (2009) Urinary proteome pattern in children with renal Fanconi syndrome. Nephrol Dial Transplant 24(7):2161-2169
-
(2009)
Nephrol Dial Transplant
, vol.24
, Issue.7
, pp. 2161-2169
-
-
Drube, J.1
Schiffer, E.2
Mischak, H.3
Kemper, M.J.4
Neuhaus, T.5
Pape, L.6
Lichtinghagen, R.7
Ehrich, J.H.8
-
3
-
-
0032798748
-
Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)
-
10068513 10.1006/mgme.1998.2790 1:CAS:528:DyaK1MXhsFOmtrs%3D
-
Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA (1999) Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Mol Genet Metab 66:111-116
-
(1999)
Mol Genet Metab
, vol.66
, pp. 111-116
-
-
Anikster, Y.1
Lucero, C.2
Touchman, J.W.3
Huizing, M.4
McDowell, G.5
Shotelersuk, V.6
Green, E.D.7
Gahl, W.A.8
-
4
-
-
0000966393
-
Cystinosis: A disorder of lysosomal membrane transport
-
Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. (eds) Eighth edition. McGraw-Hill Companies, Inc
-
Gahl WA, Thoene J, Schneider JA (2001) Cystinosis: a disorder of lysosomal membrane transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. (eds) The metabolic and molecular basis of inherited disease, Eighth edition. McGraw-Hill Companies, Inc, pp. 5085-5108
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 5085-5108
-
-
Gahl, W.A.1
Thoene, J.2
Schneider, J.A.3
-
5
-
-
0036842145
-
Cystinosis: From gene to disease
-
12401840 10.1093/ndt/17.11.1883 1:CAS:528:DC%2BD38Xptleltbk%3D
-
Kalatzis V, Antignac C (2002) Cystinosis: from gene to disease. Nephrol Dial Transplant 17:1883-1886
-
(2002)
Nephrol Dial Transplant
, vol.17
, pp. 1883-1886
-
-
Kalatzis, V.1
Antignac, C.2
-
6
-
-
0035113201
-
Pulmonary dysfunction in adults with nephropathic cystinosis
-
11171714 10.1378/chest.119.2.394 1:STN:280:DC%2BD3M7psVKntA%3D%3D
-
Anikster Y, Lacbawan F, Brantly M, Gochuico BL, Avila NA, Travis W, Gahl WA (2001) Pulmonary dysfunction in adults with nephropathic cystinosis. Chest 119:394-401
-
(2001)
Chest
, vol.119
, pp. 394-401
-
-
Anikster, Y.1
Lacbawan, F.2
Brantly, M.3
Gochuico, B.L.4
Avila, N.A.5
Travis, W.6
Gahl, W.A.7
-
7
-
-
0032839292
-
Mutations of CTNS causing intermediate cystinosis
-
10.1006/mgme.1999.2876
-
Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT (1999) Mutations of CTNS causing intermediate cystinosis. Mol Genet Metab 7:283-289
-
(1999)
Mol Genet Metab
, vol.7
, pp. 283-289
-
-
Thoene, J.1
Lemons, R.2
Anikster, Y.3
Mullet, J.4
Paelicke, K.5
Lucero, C.6
Gahl, W.7
Schneider, J.8
Shu, S.G.9
Campbell, H.T.10
-
9
-
-
0023731287
-
NIH conference - Cystinosis: Progress in a prototypic disease
-
3048161 1:STN:280:DyaL1czjvFWjuw%3D%3D
-
Gahl WA, Thoene JG, Schneider JA, O'Regan S, Kaiser-Kupfer MI, Kuwabara T (1988) NIH conference - Cystinosis: progress in a prototypic disease. Ann Intern Med 109:557-569
-
(1988)
Ann Intern Med
, vol.109
, pp. 557-569
-
-
Gahl, W.A.1
Thoene, J.G.2
Schneider, J.A.3
O'Regan, S.4
Kaiser-Kupfer, M.I.5
Kuwabara, T.6
-
10
-
-
0021860843
-
Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts: Role in therapeutic cystine removal
-
3921538 1:CAS:528:DyaL2MXitVaisLg%3D
-
Pisoni RL, Thoene JG, Christensen HN (1985) Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts: role in therapeutic cystine removal. J Biol Chem 260:4791-4798
-
(1985)
J Biol Chem
, vol.260
, pp. 4791-4798
-
-
Pisoni, R.L.1
Thoene, J.G.2
Christensen, H.N.3
-
11
-
-
0019940282
-
Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis
-
7112129 10.1126/science.7112129 1:CAS:528:DyaL38Xls1SltrY%3D
-
Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD (1982) Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science 217:1263-1265
-
(1982)
Science
, vol.217
, pp. 1263-1265
-
-
Gahl, W.A.1
Bashan, N.2
Tietze, F.3
Bernardini, I.4
Schulman, J.D.5
-
12
-
-
0036891796
-
Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells
-
12444206 10.1097/01.ASN.0000036867.49866.59 1:CAS:528: DC%2BD38XoslSnt7s%3D
-
Park M, Helip-Wooley A, Thoene J (2002) Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells. J Am Soc Nephrol 13:2878-2887
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2878-2887
-
-
Park, M.1
Helip-Wooley, A.2
Thoene, J.3
-
13
-
-
36148938793
-
A review of the role of enhanced apoptosis in the pathophysiology of cystinosis
-
17728168 10.1016/j.ymgme.2007.07.008 1:CAS:528:DC%2BD1cXks1WlsQ%3D%3D
-
Thoene JG (2007) A review of the role of enhanced apoptosis in the pathophysiology of cystinosis. Mol Genet Metab 92(4):292-298
-
(2007)
Mol Genet Metab
, vol.92
, Issue.4
, pp. 292-298
-
-
Thoene, J.G.1
-
14
-
-
77949398364
-
Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis
-
19959713 10.1681/ASN.2009040383 1:CAS:528:DC%2BC3cXislSqtLk%3D
-
Sansanwal P, Yen B, Gahl WA, Ma Y, Ying L, Wong LJ, Sarwal MM (2010) Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis. J Am Soc Nephrol 21(2):272-283
-
(2010)
J Am Soc Nephrol
, vol.21
, Issue.2
, pp. 272-283
-
-
Sansanwal, P.1
Yen, B.2
Gahl, W.A.3
Ma, Y.4
Ying, L.5
Wong, L.J.6
Sarwal, M.M.7
-
15
-
-
15344339173
-
Potential role of apoptosis in development of the cystinotic phenotype
-
15622500 10.1007/s00467-004-1712-9
-
Park M, Thoene J (2005) Potential role of apoptosis in development of the cystinotic phenotype. Pediatr Nephrol 20:441-446
-
(2005)
Pediatr Nephrol
, vol.20
, pp. 441-446
-
-
Park, M.1
Thoene, J.2
-
16
-
-
78649321489
-
The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies
-
20826102 10.1016/j.ymgme.2010.08.015 1:CAS:528:DC%2BC3cXhsVGnsbfL
-
Larsen CP, Walker PD, Thoene JG (2010) The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies. Mol Genet Metab 101(4):417-420
-
(2010)
Mol Genet Metab
, vol.101
, Issue.4
, pp. 417-420
-
-
Larsen, C.P.1
Walker, P.D.2
Thoene, J.G.3
-
17
-
-
0036837663
-
Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis
-
10.1128/MCB.22.21.7622-7632.2002 1:CAS:528:DC%2BD38XotVKhsbY%3D
-
Cherqui S, Sevin C, Hamard G, Kalatzis V, Sich M, Pequignot MO, Gogat K, Abitbol M, Broyer M, Gubler MC, Antignac C (2002) Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol Cell Bio 22:7622-7632
-
(2002)
Mol Cell Bio
, vol.22
, pp. 7622-7632
-
-
Cherqui, S.1
Sevin, C.2
Hamard, G.3
Kalatzis, V.4
Sich, M.5
Pequignot, M.O.6
Gogat, K.7
Abitbol, M.8
Broyer, M.9
Gubler, M.C.10
Antignac, C.11
-
18
-
-
0031854963
-
The Fanconi syndrome of cystinosis: Insights into the pathophysiology
-
9745876 10.1007/s004670050495 1:STN:280:DyaK1cvhs12mug%3D%3D
-
Baum M (1998) The Fanconi syndrome of cystinosis: insights into the pathophysiology. Pediatr Nephrol 12:492-497
-
(1998)
Pediatr Nephrol
, vol.12
, pp. 492-497
-
-
Baum, M.1
-
19
-
-
0019836236
-
The Fanconi syndrome and mechanisms of tubular transport dysfunction
-
7334745 10.1038/ki.1981.200 1:STN:280:DyaL387ks1Grsg%3D%3D
-
Roth KS, Foreman JW, Segal S (1981) The Fanconi syndrome and mechanisms of tubular transport dysfunction. Kidney Int 20:705-716
-
(1981)
Kidney Int
, vol.20
, pp. 705-716
-
-
Roth, K.S.1
Foreman, J.W.2
Segal, S.3
-
20
-
-
0027438729
-
The cellular basis of Fanconi syndrome
-
1:STN:280:DyaK2c%2FktlGqtQ%3D%3D Review 147-148
-
Baum M (1993) The cellular basis of Fanconi syndrome. Hosp Pract (Off Ed) 28(11):137-142, Review 147-148
-
(1993)
Hosp Pract (Off Ed)
, vol.28
, Issue.11
, pp. 137-142
-
-
Baum, M.1
-
22
-
-
0027506402
-
Growth and pubertal development in nephropathic cystinosis
-
8444253 10.1007/BF01956154 1:STN:280:DyaK3s7osFOntA%3D%3D
-
Winkler L, Offner G, Krull F, Brodehl J (1993) Growth and pubertal development in nephropathic cystinosis. Eur J Pediatr 152:244-249
-
(1993)
Eur J Pediatr
, vol.152
, pp. 244-249
-
-
Winkler, L.1
Offner, G.2
Krull, F.3
Brodehl, J.4
-
23
-
-
0021983358
-
Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome
-
3988933 10.1172/JCI111806 1:STN:280:DyaL2M7otlWjsA%3D%3D
-
Bernardini I, Rizzo WB, Dalakas M, Bernar J, Gahl WA (1985) Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome. J Clin Invest 75:1124-1130
-
(1985)
J Clin Invest
, vol.75
, pp. 1124-1130
-
-
Bernardini, I.1
Rizzo, W.B.2
Dalakas, M.3
Bernar, J.4
Gahl, W.A.5
-
24
-
-
0025358591
-
Idiopathic Fanconi syndrome with progressive renal failure: A case report and discussion
-
2356624 1:STN:280:DyaK3c3ovFaitA%3D%3D
-
Long WS, Seashore MR, Siegel NJ, Bia MJ (1990) Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion. Yale J Biol Med 63(1):15-28
-
(1990)
Yale J Biol Med
, vol.63
, Issue.1
, pp. 15-28
-
-
Long, W.S.1
Seashore, M.R.2
Siegel, N.J.3
Bia, M.J.4
-
25
-
-
0036066176
-
+-dependent transporters in cystine-loaded human renal cells: Electrophysiological studies on the Fanconi syndrome of cystinosis
-
12138140 10.1097/01.ASN.0000023681.13865.25 1:CAS:528: DC%2BD38Xmt1Ogsbg%3D
-
+-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis. J Am Soc Nephrol 13:2085-2093
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2085-2093
-
-
Cetinkaya, I.1
Schlatter, E.2
Hirsch, J.R.3
Herter, P.4
Harms, E.5
Kleta, R.6
-
26
-
-
0028307492
-
Progression of chronic renal failure in a historical group of patients with nephropathic cystinosis. European Collaborative Study on Cystinosis
-
7947039 10.1007/BF00856532 1:STN:280:DyaK2M%2Fjtl2qsQ%3D%3D
-
Manz F, Gretz N (1994) Progression of chronic renal failure in a historical group of patients with nephropathic cystinosis. European Collaborative Study on Cystinosis. Pediatr Nephrol 8:466-471
-
(1994)
Pediatr Nephrol
, vol.8
, pp. 466-471
-
-
Manz, F.1
Gretz, N.2
-
27
-
-
0344034275
-
Cystinosis. A clinicopathological conference. from toddlers to twenties and beyond Adult-Paediatric Nephrology Interface Meeting, Manchester 2001
-
14605270 10.1093/ndt/gfg445
-
Middleton R, Bradbury M, Webb N, O'Donoghue D, van't Hoff W (2003) Cystinosis. A clinicopathological conference. From toddlers to twenties and beyond Adult-Paediatric Nephrology Interface Meeting, Manchester 2001. Nephrol Dial Transplant 18:2492-2495
-
(2003)
Nephrol Dial Transplant
, vol.18
, pp. 2492-2495
-
-
Middleton, R.1
Bradbury, M.2
Webb, N.3
O'Donoghue, D.4
Van'T Hoff, W.5
-
28
-
-
0033808653
-
Corneal crystals in nephropathic cystinosis: Natural history and treatment with cysteamine eyedrops
-
11001803 10.1006/mgme.2000.3062 1:CAS:528:DC%2BD3cXms1yjurY%3D
-
Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI (2000) Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Mol Genet Metab 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
-
29
-
-
0023017419
-
Cystinosis coming of age
-
3541536 1:STN:280:DyaL2s%2Fps1yjuw%3D%3D
-
Gahl WA (1986) Cystinosis coming of age. Adv Pediatr 33:95-126
-
(1986)
Adv Pediatr
, vol.33
, pp. 95-126
-
-
Gahl, W.A.1
-
30
-
-
0021183583
-
Decreased sweat production in cystinosis
-
6726525 10.1016/S0022-3476(84)80494-1 1:STN:280:DyaL2c3hsFKrsA%3D%3D
-
Gahl WA, Hubbard VS, Orloff S (1984) Decreased sweat production in cystinosis. J Pediatr 104:904-905
-
(1984)
J Pediatr
, vol.104
, pp. 904-905
-
-
Gahl, W.A.1
Hubbard, V.S.2
Orloff, S.3
-
31
-
-
0027427788
-
Pituitary testicular function in nephropathic cystinosis
-
8363167 1:STN:280:DyaK3szntVOrtA%3D%3D
-
Chik CL, Friedman A, Merriam GR, Gahl WA (1993) Pituitary testicular function in nephropathic cystinosis. Ann Intern Med 119:568-575
-
(1993)
Ann Intern Med
, vol.119
, pp. 568-575
-
-
Chik, C.L.1
Friedman, A.2
Merriam, G.R.3
Gahl, W.A.4
-
32
-
-
7444266845
-
Idiopathic intracranial hypertension in cystinosis
-
15520772 10.1016/j.jpeds.2004.06.080
-
Dogulu CF, Tsilou E, Rubin B, Fitzgibbon EJ, Kaiser-Kupper MI, Rennert OM, Gahl WA (2004) Idiopathic intracranial hypertension in cystinosis. J Pediatr 145(5):673-678
-
(2004)
J Pediatr
, vol.145
, Issue.5
, pp. 673-678
-
-
Dogulu, C.F.1
Tsilou, E.2
Rubin, B.3
Fitzgibbon, E.J.4
Kaiser-Kupper, M.I.5
Rennert, O.M.6
Gahl, W.A.7
-
33
-
-
0029865229
-
Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine
-
8830179 10.1007/BF01799350 1:STN:280:DyaK283lsFSksQ%3D%3D
-
Broyer M, Tete MJ, Guest G, Bertheleme JP, Labrousse F, Poisson M (1996) Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine. J Inherit Metab Dis 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
-
34
-
-
0033696397
-
Neurobehavioral consequences of a genetic metabolic disorder: Visual processing deficits in infantile nephropathic cystinosis
-
1:STN:280:DC%2BD3M7gsVCgsQ%3D%3D
-
Ballantyne AO, Trauner DA (2000) Neurobehavioral consequences of a genetic metabolic disorder: visual processing deficits in infantile nephropathic cystinosis. Neuropsychiatr Neuropsychol Behav Neurol 13:254-263
-
(2000)
Neuropsychiatr Neuropsychol Behav Neurol
, vol.13
, pp. 254-263
-
-
Ballantyne, A.O.1
Trauner, D.A.2
-
35
-
-
42649134517
-
Nephropathic cystinosis: Late complications of a multisystemic disease
-
18008091 10.1007/s00467-007-0650-8
-
Nesterova G, Gahl W (2008) Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol 23(6):863-867
-
(2008)
Pediatr Nephrol
, vol.23
, Issue.6
, pp. 863-867
-
-
Nesterova, G.1
Gahl, W.2
-
36
-
-
0034971459
-
Long-term treatment with growth hormone in short children with nephropathic cystinosis
-
European Study Group on Growth Hormone Treatment in Children with Nephropathic Cystinosis 11391333 10.1067/mpd.2001.113263
-
Wühl E, Haffner D, Offner G, Broyer M, van't Hoff W, Mehls O, European Study Group on Growth Hormone Treatment in Children with Nephropathic Cystinosis (2001) Long-term treatment with growth hormone in short children with nephropathic cystinosis. J Pediatr 138:880-887
-
(2001)
J Pediatr
, vol.138
, pp. 880-887
-
-
Wühl, E.1
Haffner, D.2
Offner, G.3
Broyer, M.4
Van'T Hoff, W.5
Mehls, O.6
-
37
-
-
0026608867
-
Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis
-
1552398 1:STN:280:DyaK383gtlSrtQ%3D%3D
-
Schnaper HW, Cottel J, Merrill S, Marcusson E, Kissane JM, Shackelford GD, So SK, Nelson RD, Cole BR, Smith ML, Schneider JA (1992) Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis. J Pediatr 120(4 Pt 1):575-578
-
(1992)
J Pediatr
, vol.120
, Issue.4 PART 1
, pp. 575-578
-
-
Schnaper, H.W.1
Cottel, J.2
Merrill, S.3
Marcusson, E.4
Kissane, J.M.5
Shackelford, G.D.6
So, S.K.7
Nelson, R.D.8
Cole, B.R.9
Smith, M.L.10
Schneider, J.A.11
-
38
-
-
0033675572
-
Early development of the renal lesions in infantile cystinosis
-
11095011 10.1007/PL00013448 1:STN:280:DC%2BD3M7js1OnsA%3D%3D
-
Mahoney CP, Striker GE (2000) Early development of the renal lesions in infantile cystinosis. Pediatr Nephrol 15:50-56
-
(2000)
Pediatr Nephrol
, vol.15
, pp. 50-56
-
-
Mahoney, C.P.1
Striker, G.E.2
-
39
-
-
34548432080
-
Nephropathic cystinosis in adults: Natural history and effects of oral cysteamine therapy
-
Gahl WA, Balog JZ, Kleta R (2007) Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intl Med 147(4):242-250
-
(2007)
Ann Intl Med
, vol.147
, Issue.4
, pp. 242-250
-
-
Gahl, W.A.1
Balog, J.Z.2
Kleta, R.3
-
40
-
-
0027511192
-
Renal transplantation for infantile cystinosis: Long-term follow-up
-
8437088 10.1016/S0022-3468(05)80282-9 1:STN:280:DyaK3s7nt1SktQ%3D%3D
-
Almond PS, Matas AJ, Nakhleh RE, Morel P, Troppmann C, Najarian JS, Chavers B (1993) Renal transplantation for infantile cystinosis: long-term follow-up. J Pediatr Surg 28:232-238
-
(1993)
J Pediatr Surg
, vol.28
, pp. 232-238
-
-
Almond, P.S.1
Matas, A.J.2
Nakhleh, R.E.3
Morel, P.4
Troppmann, C.5
Najarian, J.S.6
Chavers, B.7
-
41
-
-
20144370294
-
First NIH/Office of Rare Diseases Conference on cystinosis: Past, present, and future
-
NIH Office of Rare Diseases 15747161 10.1007/s00467-004-1777-5
-
Kleta R, Kaskel F, Dohil R, Goodyer P, Guay-Woodford LM, Harms E, Ingelfinger JR, Koch VH, Langman CB, Leonard MB, Mannon RB, Sarwal M, Schneider JA, Skovby F, Sonies BC, Thoene JG, Trauner DA, Gahl WA, NIH Office of Rare Diseases (2005) First NIH/Office of Rare Diseases Conference on cystinosis: past, present, and future. Pediatr Nephrol 20:452-454
-
(2005)
Pediatr Nephrol
, vol.20
, pp. 452-454
-
-
Kleta, R.1
Kaskel, F.2
Dohil, R.3
Goodyer, P.4
Guay-Woodford, L.M.5
Harms, E.6
Ingelfinger, J.R.7
Koch, V.H.8
Langman, C.B.9
Leonard, M.B.10
Mannon, R.B.11
Sarwal, M.12
Schneider, J.A.13
Skovby, F.14
Sonies, B.C.15
Thoene, J.G.16
Trauner, D.A.17
Gahl, W.A.18
-
42
-
-
5144225376
-
Long-term follow-up of well treated nephropathic cystinosis patients
-
15480385 10.1016/j.jpeds.2004.03.056
-
Kleta R, Bernardini I, Ueda M, Varade WS, Phornphutkul C, Krasnewich D, Gahl WA (2004) Long-term follow-up of well treated nephropathic cystinosis patients. J Pediatr 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
-
43
-
-
0027478064
-
Improved renal function in children with cystinosis treated with cysteamine
-
8455682 10.1056/NEJM199304223281604 1:STN:280:DyaK3s3gsFSktA%3D%3D
-
Markello TC, Bernardini IM, Gahl WA (1993) Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med 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
-
44
-
-
33646942145
-
Nephropathic cystinosis: Posterior segment manifestations and effects of cysteamine therapy
-
16603246 10.1016/j.ophtha.2005.12.026
-
Tsilou ET, Rubin BI, Reed G, Caruso RC, Iwata F, Balog J, Gahl WA, Kaiser-Kupfer MI (2006) Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy. Ophthalmology 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
-
45
-
-
0027953226
-
Distal vacuolar myopathy in nephropathic cystinosis
-
8109899 10.1002/ana.410350209 1:STN:280:DyaK2c7ltlSjsA%3D%3D
-
Charnas LR, Luciano CA, Dalakas M, Gilliatt RW, Bernardini I, Ishak K, Cwik VA, Fraker D, Brushart TA, Gahl WA (1994) Distal vacuolar myopathy in nephropathic cystinosis. Ann Neurol 35(2):181-188
-
(1994)
Ann Neurol
, vol.35
, Issue.2
, pp. 181-188
-
-
Charnas, L.R.1
Luciano, C.A.2
Dalakas, M.3
Gilliatt, R.W.4
Bernardini, I.5
Ishak, K.6
Cwik, V.A.7
Fraker, D.8
Brushart, T.A.9
Gahl, W.A.10
-
46
-
-
0034972946
-
Oral motor dysfunction and feeding difficulties in nephropathic cystinosis
-
11516611 10.1016/S0887-8994(01)00268-5 1:STN:280:DC%2BD3MvntVWmtQ%3D%3D
-
Trauner DA, Fahmy RF, Mishler DA (2001) Oral motor dysfunction and feeding difficulties in nephropathic cystinosis. Pediatr Neurol 24:365-368
-
(2001)
Pediatr Neurol
, vol.24
, pp. 365-368
-
-
Trauner, D.A.1
Fahmy, R.F.2
Mishler, D.A.3
-
47
-
-
0037484307
-
Osteopenia and fractures in cystinotic children post renal transplantation
-
12700967
-
Zimakas PJ, Sharma AK, Rodd CJ (2003) Osteopenia and fractures in cystinotic children post renal transplantation. Pediatr Nephrol 18:384-390
-
(2003)
Pediatr Nephrol
, vol.18
, pp. 384-390
-
-
Zimakas, P.J.1
Sharma, A.K.2
Rodd, C.J.3
-
48
-
-
18744364173
-
Swallowing dysfunction in 101 patients with nephropathic cystinosis: Benefit of long-term cysteamine therapy
-
10.1097/01.md.0000164204.00159.d4 1:CAS:528:DC%2BD2MXjvFOjs7k%3D
-
Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA (2005) Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy. Med (Baltimore) 84:137-146
-
(2005)
Med (Baltimore)
, vol.84
, pp. 137-146
-
-
Sonies, B.C.1
Almajid, P.2
Kleta, R.3
Bernardini, I.4
Gahl, W.A.5
-
49
-
-
33644774337
-
Nodular regenerative hyperplasia and severe portal hypertension in cystinosis
-
16527704 10.1016/j.cgh.2005.12.013
-
O'Brien K, Hussain N, Warady BA, Kleiner DE, Kleta R, Bernardini I, Heller T, Gahl WA (2006) Nodular regenerative hyperplasia and severe portal hypertension in cystinosis. Clin Gastroenterol Hepatol 4:387-394
-
(2006)
Clin Gastroenterol Hepatol
, vol.4
, pp. 387-394
-
-
O'Brien, K.1
Hussain, N.2
Warady, B.A.3
Kleiner, D.E.4
Kleta, R.5
Bernardini, I.6
Heller, T.7
Gahl, W.A.8
-
50
-
-
0023940009
-
Inflammatory bowel disease in a patient with nephropathic cystinosis
-
3353194 1:STN:280:DyaL1c7ns1arug%3D%3D
-
Treem WR, Rusnack EJ, Ragsdale BD, Seikaly MG, DiPalma JS (1988) Inflammatory bowel disease in a patient with nephropathic cystinosis. Pediatrics 81:584-587
-
(1988)
Pediatrics
, vol.81
, pp. 584-587
-
-
Treem, W.R.1
Rusnack, E.J.2
Ragsdale, B.D.3
Seikaly, M.G.4
Dipalma, J.S.5
-
51
-
-
0032784098
-
Diabetes mellitus in patients with infantile cystinosis after renal transplantation
-
10452283 10.1007/s004670050651 1:STN:280:DyaK1MznvFemsA%3D%3D
-
Robert JJ, Tête MJ, Guest G, Gagnadoux MF, Niaudet P, Broyer M (1999) Diabetes mellitus in patients with infantile cystinosis after renal transplantation. Pediatr Nephrol 13(6):524-529
-
(1999)
Pediatr Nephrol
, vol.13
, Issue.6
, pp. 524-529
-
-
Robert, J.J.1
Tête, M.J.2
Guest, G.3
Gagnadoux, M.F.4
Niaudet, P.5
Broyer, M.6
-
52
-
-
0019348933
-
Infantile cystinosis: A reappraisal of early and late symptoms
-
6791467 1:STN:280:DyaL3M3nvVyguw%3D%3D
-
Broyer M, Guillot M, Gubler MC, Habib R (1981) Infantile cystinosis: a reappraisal of early and late symptoms. Adv Nephrol Necker Hosp 10:137-166
-
(1981)
Adv Nephrol Necker Hosp
, vol.10
, pp. 137-166
-
-
Broyer, M.1
Guillot, M.2
Gubler, M.C.3
Habib, R.4
-
53
-
-
3343001791
-
Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up
-
12425721 10.1186/1471-2369-3-8
-
Dixit MP, Greifer I (2002) Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up. BMC Nephrol 3:8
-
(2002)
BMC Nephrol
, vol.3
, pp. 8
-
-
Dixit, M.P.1
Greifer, I.2
-
54
-
-
34548828564
-
Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation
-
17699259 10.2215/CJN.01431005
-
Ueda M, O'Brien K, Rosing D, Ling A, Kleta R, McAreavey D, Bernardini I, Gahl W (2006) Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. Clin J Am Soc Nephrol 1:555-562
-
(2006)
Clin J Am Soc Nephrol
, vol.1
, pp. 555-562
-
-
Ueda, M.1
O'Brien, K.2
Rosing, D.3
Ling, A.4
Kleta, R.5
McAreavey, D.6
Bernardini, I.7
Gahl, W.8
-
56
-
-
33645111801
-
Can cystinosis cause coronary artery dilatation?
-
16450062 10.1007/s00246-005-1107-0 1:STN:280:DC%2BD287mtVOmug%3D%3D
-
Olgar S, Nisli K, Dindar A, Omeroglu RE, Ertugrul T (2006) Can cystinosis cause coronary artery dilatation? Pediatr Cardiol 27:263-268
-
(2006)
Pediatr Cardiol
, vol.27
, pp. 263-268
-
-
Olgar, S.1
Nisli, K.2
Dindar, A.3
Omeroglu, R.E.4
Ertugrul, T.5
-
57
-
-
24644521152
-
High cystine in platelets from patients with nephropathic cystinosis: A chemical, ultrastructural, and functional evaluation
-
16126874 10.1136/jcp.2005.027177 1:CAS:528:DC%2BD2MXhtFSks7fL
-
Olcay L, Erdemli E, KesimerM BY, Okur H, Kalkanoolu HS, Coskun T, Altay C (2005) High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation. J Clin Pathol 58:939-945
-
(2005)
J Clin Pathol
, vol.58
, pp. 939-945
-
-
Olcay, L.1
Erdemli, E.2
Kesimerm, B.Y.3
Okur, H.4
Kalkanoolu, H.S.5
Coskun, T.6
Altay, C.7
-
58
-
-
2342599110
-
Bone marrow findings in hereditary cystinosis with renal failure
-
15114603 10.1002/ajh.20040 1:STN:280:DC%2BD2c3ktlShuw%3D%3D
-
Quinn JP, Royston D, Murphy PT (2004) Bone marrow findings in hereditary cystinosis with renal failure. Am J Hematol 76:79
-
(2004)
Am J Hematol
, vol.76
, pp. 79
-
-
Quinn, J.P.1
Royston, D.2
Murphy, P.T.3
-
59
-
-
0017371960
-
Endocrine studies in cystinosis: Compensated primary hypothyroidism
-
406375 10.1016/S0022-3476(77)80813-5 1:CAS:528:DyaE2sXlsV2ktrs%3D
-
Lucky AW, Howley PM, Megyesi K, Spielberg SP, Schulman JD (1977) Endocrine studies in cystinosis: compensated primary hypothyroidism. J Pediatr 91:204-210
-
(1977)
J Pediatr
, vol.91
, pp. 204-210
-
-
Lucky, A.W.1
Howley, P.M.2
Megyesi, K.3
Spielberg, S.P.4
Schulman, J.D.5
-
60
-
-
0036066267
-
Cystinosis: Antibodies and healthy bodies
-
12138155 10.1097/01.ASN.0000027098.90648.F2
-
Kleta R, Gahl WA (2002) Cystinosis: antibodies and healthy bodies. J Am Soc Nephrol 13:2189-2191
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2189-2191
-
-
Kleta, R.1
Gahl, W.A.2
-
61
-
-
0023150727
-
Cysteamine therapy for children with nephropathic cystinosis
-
3550461 10.1056/NEJM198704163161602 1:STN:280:DyaL2s7nt12itw%3D%3D
-
Gahl WA, Reed GF, Thoene JG, Schulman JD, Rizzo WB, Jonas AJ, Denman DW, Schlesselman JJ, Corden BJ, Schneider JA (1987) Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med 316:971-977
-
(1987)
N Engl J Med
, vol.316
, pp. 971-977
-
-
Gahl, W.A.1
Reed, G.F.2
Thoene, J.G.3
Schulman, J.D.4
Rizzo, W.B.5
Jonas, A.J.6
Denman, D.W.7
Schlesselman, J.J.8
Corden, B.J.9
Schneider, J.A.10
-
62
-
-
20144370294
-
First NIH/office of rare diseases conference on cystinosis: Past, present, and future
-
15747161 10.1007/s00467-004-1777-5
-
Kleta R, Kaskel F, Dohil R, Goodyer P, Guay-Woodford LM, Harms E, Ingelfinger JR, Koch VH, Langman CB, Leonard MB, Mannon RB, Sarwal M, Schneider JA, Skovby F, Sonies BC, Thoene JG, Trauner DA, Gahl WA (2005) First NIH/office of rare diseases conference on cystinosis: past, present, and future. Pediatr Nephrol 20(4):452-454
-
(2005)
Pediatr Nephrol
, vol.20
, Issue.4
, pp. 452-454
-
-
Kleta, R.1
Kaskel, F.2
Dohil, R.3
Goodyer, P.4
Guay-Woodford, L.M.5
Harms, E.6
Ingelfinger, J.R.7
Koch, V.H.8
Langman, C.B.9
Leonard, M.B.10
Mannon, R.B.11
Sarwal, M.12
Schneider, J.A.13
Skovby, F.14
Sonies, B.C.15
Thoene, J.G.16
Trauner, D.A.17
Gahl, W.A.18
-
63
-
-
8544282463
-
Pharmacological treatment of nephropathic cystinosis with cysteamine
-
15500372 10.1517/14656566.5.11.2255 1:CAS:528:DC%2BD2cXoslemur0%3D
-
Kleta R, Gahl WA (2004) Pharmacological treatment of nephropathic cystinosis with cysteamine. Expert Opin Pharmacother 5:2255-2262
-
(2004)
Expert Opin Pharmacother
, vol.5
, pp. 2255-2262
-
-
Kleta, R.1
Gahl, W.A.2
-
64
-
-
0029054290
-
Biochemical follow-up in late-treated nephropathic cystinosis
-
7564231 10.1007/BF00711751 1:STN:280:DyaK28%2Flslenuw%3D%3D
-
Vilaseca MA, Camacho JA, Briones P, Farré C, Mas A (1995) Biochemical follow-up in late-treated nephropathic cystinosis. J Inherit Metab Dis 18:147-150
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 147-150
-
-
Vilaseca, M.A.1
Camacho, J.A.2
Briones, P.3
Farré, C.4
Mas, A.5
-
65
-
-
0027514879
-
Classic nephropathic cystinosis as an adult disease
-
8411603 10.1001/jama.1993.03510180070036 1:STN:280:DyaK2c%2FhslWgtg%3D%3D
-
Theodoropoulos DS, Krasnewich D, Kaiser-Kupfer MI, Gahl WA (1993) Classic nephropathic cystinosis as an adult disease. JAMA 270:2200-2204
-
(1993)
JAMA
, vol.270
, pp. 2200-2204
-
-
Theodoropoulos, D.S.1
Krasnewich, D.2
Kaiser-Kupfer, M.I.3
Gahl, W.A.4
-
66
-
-
0025289040
-
Predicted reciprocal serum creatinine at age 10 years as a measure of renal function in children with nephropathic cystinosis treated with oral cysteamine
-
2397178 10.1007/BF00858823 1:STN:280:DyaK3czntlKmsA%3D%3D
-
Gahl WA, Schneider JA, Schulman JD, Thoene JG, Reed GF (1990) Predicted reciprocal serum creatinine at age 10 years as a measure of renal function in children with nephropathic cystinosis treated with oral cysteamine. Pediatr Nephrol 4:129-135
-
(1990)
Pediatr Nephrol
, vol.4
, pp. 129-135
-
-
Gahl, W.A.1
Schneider, J.A.2
Schulman, J.D.3
Thoene, J.G.4
Reed, G.F.5
-
67
-
-
0032712587
-
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: Predicted effect on the model of cystinosin
-
10556299 10.1093/hmg/8.13.2507 1:CAS:528:DyaK1MXnvFKrurg%3D
-
Attard M, Jean G, Forestier L, Cherqui S, van't Hoff W, Broyer M, Antignac C, Town M (1999) Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. Hum Mol Genet 8:2507-2514
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2507-2514
-
-
Attard, M.1
Jean, G.2
Forestier, L.3
Cherqui, S.4
Van'T Hoff, W.5
Broyer, M.6
Antignac, C.7
Town, M.8
-
68
-
-
70350509583
-
Successful treatment of the murine model of cystinosis using bone marrow cell transplantation
-
19506297 10.1182/blood-2009-03-213934 1:CAS:528:DC%2BD1MXht1Wktr3E
-
Syres K, Harrison F, Tadlock M, Jester JV, Simpson J, Roy S, Salomon DR, Cherqui S (2009) Successful treatment of the murine model of cystinosis using bone marrow cell transplantation. Blood 114(12):2542-2552
-
(2009)
Blood
, vol.114
, Issue.12
, pp. 2542-2552
-
-
Syres, K.1
Harrison, F.2
Tadlock, M.3
Jester, J.V.4
Simpson, J.5
Roy, S.6
Salomon, D.R.7
Cherqui, S.8
-
69
-
-
33947272957
-
Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever
-
17136701 1:CAS:528:DC%2BD2sXlsVymurk%3D
-
Haase M, Morgera S, Bamberg C, Halle H, Martini S, Dragun D, Neumayer H-H, Budde K (2006) Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever. J Nephrol 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
-
70
-
-
0031725216
-
Developmental toxicity of cysteamine in the rat: Effects on embryo-fetal development
-
9802189 10.1002/(SICI)1096-9926(199809/10)58:3/4<96: AID-TERA5>3.0.CO;2-7 1:CAS:528:DyaK1cXntVCmsbs%3D
-
Beckman DA, Mullin JJ, Assadi FK (1998) Developmental toxicity of cysteamine in the rat: effects on embryo-fetal development. Teratology 58:96-102
-
(1998)
Teratology
, vol.58
, pp. 96-102
-
-
Beckman, D.A.1
Mullin, J.J.2
Assadi, F.K.3
-
71
-
-
0031229871
-
Consultation with the Specialist: Nephropathic cystinosis
-
9286148 10.1542/pir.18-9-302 1:STN:280:DyaK2svjt1ahtQ%3D%3D
-
Gahl WA (1997) Consultation with the Specialist: nephropathic cystinosis. Pediatr Rev 18:302-304
-
(1997)
Pediatr Rev
, vol.18
, pp. 302-304
-
-
Gahl, W.A.1
-
72
-
-
84870464052
-
The history of cystinosis: Lessons for clinical management
-
doi: 10.4061/2011/929456
-
Goodyer P (2011) The history of cystinosis: lessons for clinical management Int. J Nephrol. doi: 10.4061/2011/929456
-
(2011)
Int. J Nephrol.
-
-
Goodyer, P.1
-
73
-
-
84855161044
-
Servais ACysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults
-
21900880 10.1038/ki.2011.277 1:CAS:528:DC%2BC38XhtVKmug%3D%3D
-
Brodin-Sartorius A, Tête MJ, Niaudet P, Antignac C, Guest G, Ottolenghi C, Charbit M, Moyse D, Legendre C, Lesavre P, Cochat P (2012) Servais ACysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int 81(2):179-189
-
(2012)
Kidney Int
, vol.81
, Issue.2
, pp. 179-189
-
-
Brodin-Sartorius, A.1
Tête, M.J.2
Niaudet, P.3
Antignac, C.4
Guest, G.5
Ottolenghi, C.6
Charbit, M.7
Moyse, D.8
Legendre, C.9
Lesavre, P.10
Cochat, P.11
|