A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
| Excerpt | Reference |
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| "Nephropathic cystinosis is an autosomal recessively inherited metabolic disorder resulting in the intracellular accumulation of the amino acid cystine." | ( Oshima, RG; Pellett, OL; Robb, JA; Schneider, JA, 1977) |
| "Cystinosis is an autosomal recessively inherited disease that is caused by the accumulation of cystine in lysosome due to lack of the cystine transport system in lysosome." | ( Kamoshita, S; Watanabe, H, 1992) |
| "Nephropathic cystinosis is a lysosomal storage disorder characterized by renal failure, multisystem organ damage, and poor growth." | ( Bernardini, I; Charnas, L; Dalakas, MC; Gahl, WA; Ishak, KG; Markello, TC, 1992) |
| "Cystinosis is severe because it inevitably leads to renal failure." | ( Ayadi, A; Besbes, A; Hammami, M; Pousse, H; Sfar, MT; Slimane, MN, 1992) |
| "Nephropathic cystinosis is an inherited disorder characterized by a high intralysosomal accumulation of cystine due to a defect in lysosomal cystine transport." | ( Lemons, RM; Paelicke, KM; Pisoni, RL; Thoene, JG, 1992) |
| "Cystinosis is an autosomal recessive inborn error of metabolism in which nonprotein cystine accumulates within lysosomes." | ( Katz, B; Melles, RB; Schneider, JA; Swenson, MR, 1990) |
| "Cystinosis is an autosomal recessive disorder characterized by a high intracellular cystine concentration." | ( Baum, M; Salmon, RF, 1990) |
| "Cystinosis is a rare autosomal recessive metabolic disorder that results in the widespread accumulation of cystine crystals in ocular tissues as well as in bone marrow, liver, spleen, lymph nodes, and kidneys." | ( Minckler, DS; Rao, NA; Wan, WL, 1986) |
| "Cystinosis is a lysosomal storage disease due to impaired transport of cystine out of lysosomes." | ( Gahl, WA; Kaiser-Kupfer, MI; Kuwabara, T; O'Regan, S; Schneider, JA; Thoene, JG, 1988) |
| "Infantile cystinosis is an autosomal recessive lysosomal disorder of aminoacid metabolism leading to a storage of cystine crystals in the cells of many tissues, but mainly in the kidney and the eye." | ( Broyer, M; Dhermy, P; Dufier, JL; Gagnadoux, MF; Gubler, MC, 1987) |
| "This paper about cystinosis is focused primarily on nosology and genetic heterogeneity, the recurrent themes of these conferences." | ( Schulman, JD, 1974) |
| "Cystinosis is a rare, autosomally and recessively inherited disorder of amino-acid metabolism with ocular involvement." | ( Dörner, K; Hake, H; Thiel, HJ; Voigt, GJ; von Denffer, H, 1980) |
| "Nephropathic cystinosis is a lysosomal storage disorder leading to renal failure by age 10 years." | ( Bernardini, I; Brushart, TA; Charnas, LR; Cwik, VA; Dalakas, M; Fraker, D; Gahl, WA; Gilliatt, RW; Ishak, K; Luciano, CA, 1994) |
| "Cystinosis is a recessively inherited disorder of amino acid metabolism resulting in the abnormal intracellular accumulation of cystine." | ( Tobias, JD, 1993) |
| "Cystinosis is a lysosomal storage disease which is the most-common inherited cause of the Fanconi syndrome." | ( Baum, M, 1998) |
| "Cystinosis is a rare inborn error of cystine transport, leading to accumulation of cystine in the lysosomes." | ( Blom, H; de Graaf-Hess, A; Trijbels, F, 1999) |
| "Nephropathic cystinosis is a metabolic disease related to lysosomal cystine accumulation in almost all tissues of the body." | ( Broyer, M, 2000) |
| "Cystinosis is a lysosomal transport disorder characterized by an accumulation of intra-lysosomal cystine." | ( Antignac, C; Cherqui, S; Kalatzis, V; Trugnan, G, 2001) |
| "Cystinosis is an inherited lysosomal storage disease characterized by defective transport of cystine out of lysosomes." | ( Antignac, C; Cherqui, S; Gasnier, B; Kalatzis, V, 2001) |
| "Cystinosis is an inborn error of lysosomal cystine transporter, resulting in cystine accumulation in lysosomes of all cells." | ( Blom, HJ; de Graaf-Hess, A; Levtchenko, EN; Monnens, LA, 2002) |
| "Cystinosis is a rare autosomal recessive disease, caused by intracellular cystine accumulation due to a defect in the lysosomal cystine carrier." | ( Geelen, JM; Levtchenko, EN; Monnens, LA, 2002) |
| "Cystinosis is an autosomal recessive disorder characterized by an accumulation of intralysosomal cystine." | ( Abitbol, M; Antignac, C; Broyer, M; Cherqui, S; Gogat, K; Gubler, MC; Hamard, G; Kalatzis, V; Pequignot, MO; Sevin, C; Sich, M, 2002) |
| "Nephropathic cystinosis is an autosomal recessive disease resulting from intracellular accumulation of cystine leading to multiple organ failure." | ( Dixit, MP; Greifer, I, 2002) |
| "Nephropathic cystinosis is a lethal disorder of lysosomal cystine storage due to defective lysosomal cystine transport." | ( Helip-Wooley, A; Park, M; Thoene, J, 2002) |
| "Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder in which intracellular cystine accumulates due to impaired transport out of lysosomes." | ( Gahl, WA, 2003) |
| "Cystinosis is an autosomal recessive disorder caused by an impaired transport of cystine out of lysosomes." | ( Blom, H; de Graaf-Hess, AC; Levtchenko, EN; Monnens, LA; van den Heuvel, LP; Wilmer, M, 2004) |
| "Cystinosis is an inherited disorder characterized by defective lysosomal efflux of cystine." | ( Antignac, C; Cherqui, S; Gasnier, B; Kalatzis, V; Nevo, N, 2004) |
| "Cystinosis is a disorder associated with excessive lysosomal cystine accumulation secondary to defective cystine efflux." | ( de Souza Wyse, AT; Rosa, TG; Wajner, M; Wannmacher, CM, 2004) |
| "Cystinosis is an autosomal recessive disorder characterized by an accumulation of intralysosomal cystine." | ( Bravo Soto, JA; Cabrera Morales, CM; Cantón, J; Martínez Llamas, MS; Pedrinaci, S, 2004) |
| "Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in CTNS." | ( Bendavid, C; Gahl, WA; Haddad, BR; Kleta, R; Long, R; Muenke, M; Ouspenskaia, M, 2004) |
| "Cystinosis is an autosomal recessive disease that results in a defective integral membrane protein responsible for the transport of cystine out of lysosomes." | ( Ray, TL; Tobias, JD, 2004) |
| "Cystinosis is an inherited disorder due to mutations in the CTNS gene which encodes cystinosin, a lysosomal transmembrane protein involved in cystine export to the cytosol." | ( Antignac, C; Cherqui, S; Chol, M; Nevo, N; Rustin, P, 2004) |
| "Nephropathic cystinosis is a lethal inborn error of metabolism that destroys kidney function by age 10 years." | ( Thoene, JG, 2005) |
| "Cystinosis is a disorder associated with lysosomal cystine accumulation caused by defective cystine efflux." | ( de Souza Wyse, AT; Dutra-Filho, CS; Fleck, RM; Giacomazzi, J; Parissoto, D; Rodrigues Junior, V; Wajner, M; Wannmacher, CM, 2005) |
| "Nephropathic cystinosis is a rare, autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene that codes for a cystine transporter in the lysosomal membrane." | ( Almajid, P; Bernardini, I; Gahl, WA; Kleta, R; Sonies, BC, 2005) |
| "Cystinosis is an autosomal recessive disorder, caused by mutations of the lysosomal cystine carrier cystinosin, encoded by the CTNS gene (17p13)." | ( Blom, H; de Graaf-Hess, A; Levtchenko, E; Monnens, L; van den Heuvel, L; Wilmer, M, 2005) |
| "Cystinosis is a rare autosomal recessive storage disorder, characterized by the abnormal accumulation of cystine in cellular lysosomes." | ( Herrine, SK; Navarro, VJ; Rossi, S, 2005) |
| "Cystinosis is an autosomal recessive disorder, caused by mutations in the lysosomal cystine carrier cystinosin, encoded by the CTNS gene." | ( Blom, HJ; de Graaf-Hess, AC; Levtchenko, EN; Monnens, LA; van Dael, CM; van den Heuvel, LP; Wilmer, MJ, 2006) |
| "Cystinosis is an autosomal recessive lysosomal storage disorder caused by a defect in the lysosomal cystine carrier cystinosin." | ( Blom, HJ; de Graaf-Hess, A; Janssen, AJ; Koenderink, JB; Levtchenko, EN; Monnens, LA; van den Heuvel, LP; Visch, HJ; Willems, PH; Wilmer, MJ, 2006) |
| "Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the intracellular accumulation of cystine." | ( Balog, J; Caruso, RC; Gahl, WA; Iwata, F; Kaiser-Kupfer, MI; Reed, G; Rubin, BI; Tsilou, ET, 2006) |
| "Nephropathic cystinosis is a lethal genetic disease caused by a lysosomal transport disorder leading to intralysosomal cystine accumulation in all tissues." | ( Athaydes, GA; De Souza Wyse, AT; Dornelles, PK; Dutra-Filho, CS; Feksa, LR; Rech, VC; Rodrigues-Junior, V; Wajner, M; Wannmacher, CM, 2006) |
| "Cystinosis is a rare genetic disease characterized by defective lysosomal cystine transport and increased lysosomal cystine." | ( Junius, S; Kerisit, KG; Park, MA; Pejovic, V; Thoene, JG, 2006) |
| "Cystinosis is an autosomal recessive disorder associated with lysosomal cystine accumulation caused by defective cystine efflux." | ( Duval Wannmacher, CM; Pereira Oliveira, PR; Rech, VC; Rodrigues-Junior, V, 2007) |
| "Cystinosis is a rare autosomal recessive disorder characterized by an accumulation of intralysosomal cystine due to a defect in cystine transport across the lysosomal membrane." | ( Aupetit, J; Chabli, A; Chadefaux-Vekemans, B; Raehm, M; Ricquier, D, 2007) |
| "Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation of cystine." | ( Besouw, M; Blom, H; de Graaf-Hess, A; Levtchenko, E; Tangerman, A, 2007) |
| "Cystinosis is a systemic genetic disease caused by a lysosomal transport deficiency accumulating cystine in most tissues." | ( Arevalo do Amaral, MF; Dutra-Filho, CS; Duval Wannmacher, CM; Feksa, LR; Koch, GW; Rech, VC; Terezinha de Souza Wyse, A; Wajner, M, 2007) |
| "Cystinosis is a lysosomal storage disorder characterized by abnormal accumulation of cystine, which forms crystals at high concentrations." | ( Antignac, C; Arndt, C; Cazevieille, C; Hamel, C; Hippert, C; Kalatzis, V; Kremer, EJ; Malecaze, F; Maurice, T; Müller, A; Payet, O; Serratrice, N, 2007) |
| "Nephropathic cystinosis is a lysosomal storage disorder, which, if untreated, results in renal failure by age 10 years." | ( Bendel-Stenzel, MR; Dohil, R; Kim, Y; Steinke, J, 2008) |
| "Cystinosis is a rare autosomal recessive disorder due to impaired transport of cystine out of cellular lysosomes." | ( Gahl, W; Nesterova, G, 2008) |
| "Cystinosis is an autosomal recessive disease characterized by the intralysosomal accumulation of cystine, as a result of a defect in cystine transport across the lysosomal membrane." | ( Antignac, C; Chadefaux-Vekemans, B; Goujon, JM; Grünfeld, JP; Morinière, V; Noël, LH; Servais, A, 2008) |
| "Nephropathic cystinosis is a rare autosomal recessive disease characterised by raised lysosomal levels of cystine in the cells of most organs." | ( Cairns, D; Kay, G; Knott, RM; McCaughan, B, 2008) |
| "Cystinosis is a systemic genetic disease caused by a lysosomal transport deficiency accumulating cystine in the lysosomes of all tissues." | ( Athaydes, GA; Dornelles, PK; Feksa, LR; Fleck, RM; Rech, VC; Rodrigues-Junior, V; Wannmacher, CM, 2008) |
| "Cystinosis is a metabolic disease characterized by accumulation of cystine in different organs and tissues, leading to potentially life-threatening organ dysfunction." | ( Cassiman, D; Claes, K; Cornelis, T; Gillard, P; Lombaerts, R; Nevens, F; Nijs, E; Roskams, T, 2008) |
| "Cystinosis is a multisystemic genetic storage disorder characterized by a mutation in the transporter system of cystine." | ( DeVilliers, P; Gutta, R; Szymela, VF, 2008) |
| "Cystinosis is an autosomal recessive disease leading to intralysosomal cystine accumulation." | ( Besouw, MT; Janssen, MC; Kremer, JA; Levtchenko, EN, 2010) |
| "Cystinosis is an autosomal recessive lysosomal storage disease that results in renal failure." | ( Berger, JR; Dillon, DA; Goldstein, SJ; Nelson, P; Young, BA, 2009) |
| "Nephropathic cystinosis is rare genetic disease characterized by defective lysosomal cystine transport and increased lysosomal cystine." | ( Bazaraa, H; El-Baroudy, R; Rizk, A; Soliman, NA; Younan, A, 2009) |
| "Cystinosis is a systemic genetic disease caused by a lysosomal transport deficiency accumulating cystine in the lysosomes of almost all tissues." | ( Feksa, LR; Figueiredo, VC; Wannmacher, CM, 2009) |
| "Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by excessive accumulation of cystine within the lysosome." | ( Danda, S; Huang, T; Simon, M; Tang, S; Zoleikhaeian, M, 2009) |
| "Cystinosis is caused by mutations in CTNS that encodes cystinosin, the lysosomal cystine transporter." | ( Antignac, C; Bailleux, A; Chol, M; Devuyst, O; Gubler, MC; Kalatzis, V; Morisset, L; Nevo, N, 2010) |
| "Nephropathic cystinosis is a rare autosomal recessive disease characterised by raised lysosomal levels of cystine in the cells of all organs." | ( Buchan, B; Cairns, D; Heneghan, A; Kay, G; Matthews, KH, 2010) |
| "Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage." | ( Levtchenko, EN; Schoeber, JP; van den Heuvel, LP; Wilmer, MJ, 2011) |
| "Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in CTNS." | ( Blom, HJ; Gahl, WA; Jakobs, C; Jansen, EE; Kömhoff, M; Levtchenko, EN; Struys, EA; Vilboux, T; Wamelink, MM, 2011) |
| "Fabry disease and cystinosis are both lysosomal diseases." | ( Grünfeld, JP; Servais, A, 2010) |
| "Nephropathic cystinosis is an autosomal recessive disorder caused by mutations in the CTNS gene [1], which encodes for a transporter (cystinosin) responsible for cystine efflux from lysosomes." | ( Cutuli, F; Springate, JE; Taub, ML, 2011) |
| "Nephropathic cystinosis is a rare autosomal recessive disease characterised by raised intracellular levels of the amino acid, cystine." | ( Cairns, D; Hector, EE; Kay, G; Knott, RM; Omran, Z, 2011) |
| "Cystinosis is a rare autosomal recessive disease caused by mutations of the CTNS gene in which cystine accumulates throughout the body as a result of a defective efflux of cystine from lysosomes." | ( El-Kares, R; Goodyer, P; Mathieu, F; Midgley, JP, 2011) |
| "Cystinosis is a rare, autosomal recessive disease with cystine deposits in different tissues." | ( Lund, AM; Oczachowska-Kulik, AE; Pedersen, EB; Skovby, F, 2011) |
| "Nephropathic cystinosis is a multisystem autosomal recessive disease caused by cystine accumulation, which is usually treated by oral cysteamine." | ( Antignac, C; Brodin-Sartorius, A; Charbit, M; Cochat, P; Guest, G; Legendre, C; Lesavre, P; Moyse, D; Niaudet, P; Ottolenghi, C; Servais, A; Tête, MJ, 2012) |
| "Nephropathic cystinosis is an autosomal recessive disorder resulting in an impaired transport of cystine trough the lysosomal membrane causing an accumulation of free cystine in lysosomes." | ( Bouazza, N; Chadefaux-Vekemans, B; Deschenes, G; Niaudet, P; Ottolenghi, C; Ricquier, D; Tréluyer, JM; Urien, S, 2011) |
| "Cystinosis is an autosomal recessive disorder characterized by intralysosomal cystine accumulation." | ( Besouw, MTP; Francois, I; Levtchenko, EN; Van Dyck, M; Van Hoyweghen, E, 2012) |
| "Nephropathic cystinosis is a rare autosomal recessive disease characterised by raised lysosomal levels of cystine in the cells of all the organs." | ( Buchan, B; Cairns, D; Kay, G; Matthews, KH, 2012) |
| "Cystinosis is a rare disease caused by homozygous mutations of the CTNS gene, encoding a cystine efflux channel in the lysosomal membrane." | ( Bellomo, F; Besouw, M; Chu, L; El-Kares, R; Eliopoulos, N; Emma, F; Goodyer, P; Iglesias, DM; Levtchenko, E; Taranta, A; Toelen, J; van den Heuvel, L; Young, YK; Zhao, J, 2012) |
| "Cystinosis is an autosomal recessive genetic disorder due to mutations in CTNS gene, which causes a defect of cystinosin, impairing the transport of free cystine out of lysosomes and causing irreversible damage to various organs, particularly the kidney." | ( Arias, A; García-Villoria, J; Hernández-Pérez, JM; Ribes, A, 2013) |
| "Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders (LSDs)." | ( Cherqui, S; Harrison, F; Kohn, DB; Rocca, CJ; Salomon, DR; Yeagy, BA, 2013) |
| "Cystinosis is a lysosomal storage disorder caused by the accumulation of the amino acid cystine due to genetic defects in the CTNS gene, which encodes cystinosin, the lysosomal cystine transporter." | ( Catz, SD; Cherqui, S; Johnson, JL; Monfregola, J; Napolitano, G; Rocca, CJ, 2013) |
| "Nephropathic cystinosis is an autosomal recessive systemic severe disease characterized by intralysosomal cystine storage." | ( Aparecido Volpini, R; Cunha Sanches, TR; de Bragança, AC; Lopes Neri, LA; Macaferri da Fonseca, FA; Moreira Filho, CA; Pache de Faria Guimaraes, L; Seguro, AC; Shimizu, MH; Sumita, NM; Vaisbich, MH, 2014) |
| "Cystinosis is a rare autosomal recessive disorder that is characterized by defective cystine transport from lysosomes to cytoplasm and cystine crystal accumulation damaging many organs and tissues especially kidneys but extrarenal systems such as endocrine system." | ( Besbas, N; Bilginer, Y; Gultekingil Keser, A; Topaloglu, R, 2014) |
| "Nephropathic cystinosis is a rare lysosomal storage disorder caused by mutations in the CTNS gene ncoding the lysosomal cystine transporter cystinosin." | ( De Leo, MG; De Matteis, MA; Ivanova, E; Levtchenko, E, 2014) |
| "Nephropathic cystinosis is an inherited autosomal recessive lysosomal storage disorder characterized by the pathological accumulation and crystallization of cystine inside different cell types." | ( Abdelaziz, H; Abdelrahman, SM; Arcolino, FO; Bossuyt, X; Cornelissen, EA; Elmonem, MA; Gaide Chevronnay, HP; Hassan, FA; Janssen, MC; Joosten, LA; Lefeber, DJ; Levtchenko, E; Makar, SH; Nabhan, MM; Soliman, NA; van den Heuvel, L, 2014) |
| "Nephropathic cystinosis is a lysosomal storage disorder characterized by renal tubular Fanconi syndrome in infancy and glomerular damage leading to renal failure at ∼10 years of age." | ( Bernardini, I; Gahl, WA; Nesterova, G; Williams, C, 2015) |
| "Cystinosis is a rare, autosomal recessive inherited lysosomal storage disease." | ( Besouw, MT; Casteels, I; Dyck, MV; Levtchenko, EN; Pinxten, AM; Veys, KR, 2016) |
| "Cystinosis is an inherited disorder resulting from a mutation in the CTNS gene, causing progressive proximal tubular cell flattening, the so-called swan-neck lesion (SNL), and eventual renal failure." | ( Antignac, C; Chevalier, RL; Forbes, MS; Galarreta, CI; Gubler, MC; Murphy, MP; Nevo, N; Thornhill, BA, 2015) |
| "Cystinosis is an autosomal recessive disorder with an estimated incidence of 1/100,000-200,000 live births." | ( Beinart, N; Graham, CD; Hackett, RA; Ostermann, M; Weinman, J, 2015) |
| "Cystinosis is a multisystemic autosomal recessive disorder characterized by an intra-lysosomal accumulation of cystine." | ( Bertholet-Thomas, A; Choukroun, G; Decramer, S; Goizet, C; Llanas, B; Novo, R; Servais, A, 2015) |
| "Cystinosis is a rare autosomal recessive disease caused by mutations of the CTNS gene, which encodes for a lysosomal cystine/H(+) symporter." | ( Bellomo, F; Bernardo, ME; Biagini, S; Cirillo, V; Conforti, A; Emma, F; Locatelli, F; Pitisci, A; Starc, N; Taranta, A, 2015) |
| "Cystinosis is a rare, inherited autosomal recessive disease caused by the accumulation of free cystine in lysosomes." | ( Besouw, MT; Cassiman, D; Claes, KJ; Levtchenko, EN; Van Dyck, M, 2015) |
| "Cystinosis is a rare metabolic genetic disorder caused by a mutation in the cystinosin lysosomal cystine transporter gene." | ( Lyou, Y; Nangia, CS; Zhao, X, 2015) |
| "Nephropathic cystinosis is a rare disorder causing the accumulation of intracellular cystine crystals in tissues." | ( Berryhill, A; Bhamre, S; Chaudhuri, A; Concepcion, W; Grimm, PC, 2016) |
| "Cystinosis is a rare lysosomal systemic disease that mainly affects the kidney and the eye." | ( Ariceta, G; Camacho, JA; Fernández-Obispo, M; Fernández-Polo, A; Gamez, J; García-Villoria, J; Güell, A; Lara Monteczuma, E; Leyes, P; Martín-Begué, N; Morell, GP; Oppenheimer, F; Perelló, M; Santandreu, AV; Torra, R, 2015) |
| "Cystinosis is caused by mutations in the lysosomal cystine transporter cystinosin and initially affects kidney proximal tubules causing renal Fanconi syndrome, followed by a gradual development of end-stage renal disease and extrarenal complications." | ( Bultynck, G; De Smedt, H; Elmonem, MA; Ivanova, EA; Levtchenko, EN; Mekahli, D; Missiaen, L; Pastore, A; van den Heuvel, LP, 2016) |
| "Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disease characterized by accumulation of cystine into lysosomes secondary to mutations in the cystine lysosomal transporter, cystinosin." | ( Ballabio, A; Bellomo, F; Catz, SD; Emma, F; Medina, DL; Montefusco, S; Napolitano, G; Pastore, A; Piemonte, F; Polishchuk, E; Polishchuk, R; Rega, LR; Taranta, A; Tozzi, G; Zhang, J, 2016) |
| "Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children." | ( Elmonem, MA; Levtchenko, E; Soliman, NA; van den Heuvel, LP; van Dyck, M; Veys, KR, 2016) |
| "Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years." | ( Barshop, BA; Deschênes, G; Emma, F; Goodyer, P; Langman, CB; Levtchenko, EN; Lipkin, G; Midgley, JP; Ottolenghi, C; Servais, A; Soliman, NA; Thoene, JG, 2016) |
| "Nephropathic cystinosis is a rare lysosomal storage disease which is characterized by the accumulation of free cystine in lysosomes and subsequent intracellular crystal formation of cystine throughout the body." | ( Ahlenstiel-Grunow, T; Drube, J; Froede, K; Kanzelmeyer, NK; Kreuzer, M; Lerch, C; Pape, L, 2017) |
| "Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder caused by loss-of-function mutations in the CTNS gene coding for the lysosomal cystine transporter, cystinosin." | ( Bongaerts, I; Bultynck, G; Elmonem, MA; Ivanova, EA; Levtchenko, EN; Luyten, T; Missiaen, L; van den Heuvel, LP, 2016) |
| "Corneal cystinosis is a rare metabolic disease that causes the accumulation of cystine crystals in the cornea resulting in corneal opacity and loss of vision." | ( Acharya, G; Isenhart, LC; Jester, JV; Lee, B; Li, F; Liu, X; Marcano, DC; Pflugfelder, SC; Shin, CS; Simpson, J, 2016) |
| "Nephropathic cystinosis is a lysosomal storage disease that is caused by mutations in the CTNS gene encoding a cystine/proton symporter cystinosin and an isoform cystinosin-LKG which is generated by an alternative splicing of exon 12." | ( Bellomo, F; De Leo, E; De Matteis, MA; Emma, F; Pastore, A; Petrini, S; Polishchuk, E; Polishchuk, R; Rega, LR; Taranta, A, 2017) |
| "Cystinosis is a rare autosomal recessive disorder characterized by lysosomal cystine accumulation due to loss of function of the lysosomal cystine transporter (CTNS)." | ( Buntinx, L; Cornelissen, E; de Hoon, J; Janssen, M; Levtchenko, E; Morlion, B; Vangeel, L; Voets, T; Vriens, J, 2016) |
| "Nephropathic cystinosis is a rare autosomal recessive disease characterised by raised lysosomal levels of cystine in the cells of all organs." | ( Cairns, D; Kay, G; Knott, R; Matthews, KH; McKenzie, B, 2016) |
| "Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders." | ( Cherqui, S; Courtoy, PJ, 2017) |
| "Cystinosis is a genetic disorder caused by malfunction of cystinosin and is characterized by accumulation of cystine." | ( Hartman, TM; Ivanova, EA; Levtchenko, EN; Pastore, A; Paul, P; Price, NPJ; Ramazani, Y; Van Den Heuvel, L; Van Schepdael, A, 2017) |
| "Animal models of cystinosis are limited, with only a Ctns knockout mouse reported, showing cystine accumulation and late signs of tubular dysfunction but lacking the glomerular phenotype." | ( Arcolino, FO; Baelde, HJ; de Witte, PA; Elmonem, MA; Khalil, R; Khodaparast, L; Levtchenko, E; Lowe, M; Morgan, J; Ny, A; Pastore, A; Tylzanowski, P; van den Heuvel, LP, 2017) |
| "Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues." | ( Alisheri, A; Cabrera-Serrano, M; Junckerstorff, RC; Laing, NG; Lamont, PJ; Pestronk, A; Weihl, CC, 2017) |
| "Cystinosis is a rare autosomal recessive disorder in which cystine crystals accumulate within the lysosomes of various organs, including the cornea." | ( Blanco-Mendez, J; Díaz-Tomé, V; Fernández-Ferreiro, A; García-Mazás, C; Gil-Martínez, M; González-Barcia, M; Herranz, M; Lamas, MJ; Luaces-Rodríguez, A; Otero-Espinar, FJ; Rodríguez-Ares, MT; Silva-Rodríguez, J, 2017) |
| "Cystinosis is a rare metabolic genetic disorder caused by a mutation in cystinosin lysosomal cystine transporter (CTNS)." | ( Delibaş, A; Kayacan, UR; Sürmeli Döven, S; Ünal, S, 2017) |
| "Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes." | ( Higashi, S; Ito, S; Matsunoshita, N; Nozu, K; Otani, M; Tokuhiro, E, 2017) |
| "Ocular cystinosis is a rare disease characterised by the deposit of cystine crystals on the corneal surface, which hinder patients' eyesight." | ( Blanco-Méndez, J; Díaz-Tomé, V; Fernández-Ferreiro, A; Gil-Martínez, M; González-Barcia, M; Lamas, MJ; Luaces-Rodríguez, A; Otero-Espinar, FJ; Rodríguez Ares, MT; Touriño Peralba, R, 2017) |
| "Cystinosis is an orphan disease caused by a genetic mutation that leads to deposition of cystine crystals in many organs including cornea." | ( Bhattacharya, A; Chauhan, A; Dixon, P; Fentzke, RC; Hazra, S; Konar, A, 2018) |
| "Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality." | ( Ariceta, G; Giordano, V; Santos, F, 2019) |
| "Cystinosis is a rare, metabolic, autosomal recessive, genetic lysosomal storage disorder characterized by an accumulation of cystine in various organs and tissues." | ( Armas, D; Brannagan, M; Checani, GC; Confer, NF; Holt, RJ; Obaidi, M; Xie, Y, 2018) |
| "Cystinosis is a rare lysosomal storage disease with first manifestation in early childhood presenting as renal Fanconi syndrome." | ( Brand, E; Canaan-Kuehl, S; Kaufeld, J; Kurschat, C; Oh, J; Pape, L; Weber, LT, 2018) |
| "Cystinosis is a genetic disease that leads to the accumulation of intracellular cystine crystals in all organs including cornea due to the loss of cystine efflux transporters in the lysosome of the cells." | ( Chauhan, A; Christopher, K; Dixon, P, 2018) |
| "Cystinosis is an ultrarare disorder caused by mutations of the cystinosin (CTNS) gene, encoding a cystine-selective efflux channel in the lysosomes of all cells of the body." | ( Brasell, EJ; Chu, L; El Kares, R; Goodyer, P; Iglesias, DM; Loesch, R; Seo, JH, 2019) |
| "Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene." | ( Janssen, MCH; Knuijt, S; Levtchenko, EN; van Rijssel, AE; Veys, K, 2019) |
| "Cystinosis is a rare genetic disorder characterized by the abnormal accumulation of cystine in the lysosomes of various tissues and organs leading to their dysfunction." | ( Durlik, M; Gałązka, Z; Gozdowska, J; Grenda, R; Kuczborska, K; Lewandowska, D; Nazarewski, S, 2019) |
| "Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes." | ( Ariceta, G; Awan, A; Bacchetta, J; Bechtold, S; Bergmann, C; Cassidy, N; Deschenes, G; Elenberg, E; Gahl, WA; Greil, O; Haffner, D; Harms, E; Herzig, N; Hohenfellner, K; Hoppe, B; Koeppl, C; Levtchenko, E; Lewis, MA; Nesterova, G; Rauch, F; Santos, F; Schlingmann, KP; Servais, A; Soliman, NA; Steidle, G; Sweeney, C; Topaloglu, R; Treikauskas, U; Tsygin, A; V Vigier, R; Veys, K; Zustin, J, 2019) |
| "Nephropathic cystinosis is the most common genetic cause of a renal Fanconi syndrome and results from dysfunction of the lysosomal cystine-transporter protein cystinosin." | ( Langman, CB, 2019) |
| "Nephropathic cystinosis is a lysosomal storage disorder." | ( Corre, C; David, W; Doyle, M; Duong, R; Eichler, F; Grant, N; Hammond, C; Sadjadi, R; Sullivan, S; Thomas, SE, 2020) |
| "Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body." | ( Filatova, A; Levtchenko, E; Papizh, S; Prikhodina, L; Serzhanova, V; Skoblov, M; Tabakov, V; van den Heuvel, L, 2019) |
| "Cystinosis is a rare disorder caused by recessive mutations of the CTNS gene." | ( Akpa, MM; Alroy, I; Brasell, EJ; Chu, LL; Corsini, R; Eshkar-Oren, I; Gilfix, BM; Goodyer, P; Huertas, P; Yamanaka, Y, 2019) |
| "Cystinosis is an autosomal recessive disorder characterized by the accumulation of cystine in lysosomes, causing irreversible damage to organs, especially the kidneys." | ( Canbay, E; Çoker, M; Sezer, ED; Sözmen, EY; Uçar, SK, 2020) |
| "While nephropathic cystinosis is classically thought of as a childhood disease, with improved treatments, patients are more commonly living into adulthood." | ( Kasimer, RN; Langman, CB, 2021) |
| "Cystinosis is an autosomal recessive lysosomal storage disorder caused by CTNS gene mutations." | ( Topaloglu, R, 2021) |
| "Cystinosis is a rare, autosomal recessive disorder causing defective transport of cystine out of lysosomes." | ( Baudouin, C; Giordano, V; Labbé, A; Liang, H; Plisson, C, 2021) |
| "Cystinosis is a multisystemic disease resulting from cystine accumulation primarily in kidney and many other tissues." | ( Akhan, O; Çiftci, T; Demir, H; Demir, N; Gülhan, B; Gültekingil, A; Ozaltin, F; Temucin, ÇM; Topaloglu, R; Yuce, A, 2020) |
| "Cystinosis is a rare, metabolic, recessive genetic disease in which the intralysosomal accumulation of cystine leads to system wide organ and tissue damage." | ( Fedorchak, MV; Jimenez, J; Nischal, KK; Resnick, JL; Washington, MA, 2021) |
| "Nephropathic cystinosis is a severe monogenic kidney disorder caused by mutations in CTNS, encoding the lysosomal transporter cystinosin, resulting in lysosomal cystine accumulation." | ( Altelaar, M; Ammerlaan, CM; Berkers, CR; Berlingerio, SP; Clevers, H; Essa, K; Jamalpoor, A; Janssen, MJ; Klumperman, J; Levtchenko, E; Lilien, MR; Masereeuw, R; Pou Casellas, C; Rega, LR; Rookmaaker, MB; van der Welle, RE; van Gelder, CA; Verhaar, MC; Veys, KR; Voskuil, K; Yousef Yengej, FA; Zaal, EA, 2021) |
| "Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding the lysosomal cystine transporter cystinosin, causing accumulation of cystine in multiple organs." | ( Antignac, C; Ariceta, G; Bertholet-Thomas, A; Bettini, C; Bockenhauer, D; Collin, S; Cornelissen, E; Deschênes, G; Devuyst, O; Emma, F; Greco, M; Haffner, D; Hoff, WV; Hohenfellner, K; Hulton, S; Janssen, M; Levtchenko, E; Niaudet, P; Novo, R; Oh, J; Ozaltin, F; Pape, L; Ravà, L; Servais, A; Topaloglu, R; Veys, K, 2021) |
| "Cystinosis is an inherited metabolic disorder caused by autosomal recessive mutations in the CTNS gene leading to lysosomal cystine accumulation." | ( Albersen, M; Besouw, M; Camps, C; Cyr, D; D'Hauwers, K; de Wever, L; Goffredo, BM; Goossens, E; Hamer, R; Janssen, MCH; Kadam, P; Levtchenko, E; Monnens, L; Reda, A; Rega, LR; Spiessens, C; Taranta, A; van den Heuvel, L; Veys, K; Wetzels, A, 2021) |
| "Nephropathic cystinosis is a rare and severe metabolic disease leading to an accumulation of cystine in lysosomes which especially harms kidney function." | ( Grebe, J; Grüneberg, M; Harms, E; Klank, S; Marquardt, T; Ottolenghi, C; Reunert, J; van Stein, C, 2021) |
| "PRÉCIS: Cystinosis is a lysosomal storage disease leading to an accumulation of cystine crystals in several organs." | ( Hohenfellner, K; Keidel, L; Luft, N; Priglinger, C; Priglinger, S; Schworm, B, 2023) |
| "Cystinosis is a rare lysosomal storage disease leading to an accumulation of cystine crystals in several organs." | ( Hohenfellner, K; Keidel, L; Luft, N; Priglinger, C; Priglinger, S; Schworm, B, 2023) |
| "Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by kidney and extra-renal complications due to the accumulation of cystine crystals in various tissues and organs." | ( Abouelwoun, II; Atia, FM; Elkhateeb, N; Elmonem, MA; Helmy, R; Selim, R; Soliman, NA, 2022) |
| "Cystinosis is a rare inheritable lysosomal storage disorder characterized by cystine accumulation throughout the body, chronic kidney disease necessitating renal replacement therapy mostly during adolescence, and multiple extra-renal complications." | ( Besouw, M; Reda, A; Veys, K, 2021) |
| "Cystinosis is a lethal autosomal recessive disease that has been known clinically for over 100 years." | ( Ames, EG; Thoene, JG, 2022) |
| "Cystinosis is a rare disease, caused by a mutation in the gene cystinosin and characterised by the accumulation of cystine crystals." | ( Graceffa, V, 2022) |
| "Cystinosis is a rare lysosomal storage disease that is tightly linked with the name of the American physician and scientist Dr." | ( Levtchenko, E; Schneider, J, 2022) |
| "Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body." | ( Gholami Yarahmadi, S; Morovvati, S; Sarlaki, F, 2022) |
| "Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities." | ( Amri, Y; Azzouz, WB; Boudabous, H; Chabchoub, I; Chkioua, L; Ferchichi, S; Ghorbel, M; Laradi, S; Mabrouk, S; Massoud, T; Mili, W; Saheli, C; Tebib, N; Turkia, HB, 2022) |
| "Cystinosis is a rare lysosomal storage disease affecting amino acid metabolism, characterized by the accumulation and crystallization of cystine in various tissues, primarily in the eye and kidney." | ( Csorba, A; Kelen, K; Maka, E; Nagy, ZZ; Reusz, G; Szabó, A, 2022) |
| "Nephropathic cystinosis is a lysosomal storage disorder with known myopathic features, including dysphagia." | ( David, WS; Eichler, F; Grant, N; Hammond, C; Sadjadi, R; Sullivan, S, 2022) |
| "Cystinosis is a rare autosomal recessive lysosomal storage disease, associated with high morbidity and mortality." | ( Cairns, D; Hector, E; Michael Wall, G, 2022) |
| "Nephropathic cystinosis is a rare lysosomal storage disease whose basic defect, impaired transport of cystine out of lysosomes, results in intracellular cystine storage." | ( Gahl, WA; Haffner, D; Hohenfellner, K; Nießl, C; Oh, J; Okorn, C; Palm, K; Schlingmann, KP; Wygoda, S, 2022) |
| "Cystinosis is an autosomal recessive lysosomal storage disorder with intracellular cystine accumulation caused by mutations in the CTNS gene." | ( Balachandran, P; Daruish, M; Kiely, C; Kwan, Z; Stefanato, CM, 2022) |
| "Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation." | ( Al-Sabban, E; Alsaad, KO; Berlingerio, SP; Bondue, T; Kouraich, A; Levtchenko, E; Marie, S; van den Heuvel, L; Veys, K, 2023) |
| "Nephropathic cystinosis is a rare autosomal recessive disease caused by mutations in the CTNS gene." | ( Keidel, LF; Kruse, F; Luft, N; Priglinger, C; Priglinger, S, 2023) |
| "Cystinosis is a very rare autosomal recessive lysosomal storage disorder with an incidence of 1 : 150,000 - 1 : 200,000, and is caused by mutations in the CTNS gene encoding the lysosomal membrane protein cystinosin, which transports cystine out of the lysosome into the cytoplasm." | ( Haffner, D; Hohenfellner, K; Zerell, K, 2023) |
| "Cystinosis is a rare lysosomal storage disease with a prevalence of 1 : 100 000 - 1 : 200 000 cases." | ( Hohenfellner, K; Keidel, LF; Kruse, F; Luft, N; Priglinger, C; Priglinger, S; Schworm, B, 2023) |
| "Nephropathic cystinosis is a rare lysosomal storage disorder in which accumulation of cystine and formation of crystals particularly impair kidney function and gradually lead to multi-organ dysfunction." | ( Aase, SA; Bjerre, A; Brackman, D; Forsberg, B; Gudmundsdottir, H; Radtke, M; Siva, C; Woldseth, B, 2023) |
| "Cystinosis is an autosomal recessive lysosomal storage disease (LSDs) caused by mutations in the gene encoding cystinosin (CTNS) that leads to cystine crystal accumulation in the lysosome that compromises cellular functions resulting in tissue damage and organ failure, especially in kidneys and eyes." | ( Amlal, H; Cheng, YC; Dong, F; Fry, M; Hu, YC; Kao, WW; Venkatakrishnan, J; Yuan, Y; Zhang, J, 2023) |
| "Cystinosis is a lysosomal storage disease that is characterized by the accumulation of dipeptide cystine within the lumen." | ( Hahn, SH; Li, M; Thoene, J; Venkatarangan, V; Yang, X; Zhang, W, 2023) |
| "Cystinosis is an autosomally inherited rare genetic disorder in which cystine accumulates in the lysosome." | ( Bachhawat, AK; Deshpande, AA; Kanakaraj, A; Ravichandran, R; Vashist, N, 2023) |