| Excerpt | Reference |
|---|
| "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) |
| "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) |
| "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) |
| "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) |
| "Infantile nephropathic cystinosis is an autosomal recessive disorder characterized biochemically by an abnormally high intracellular content of free cystine in different organs and tissues due to a transport defect of cystine through the lysosomal membrane." | ( Antignac, C; Broyer, M; Fuchshuber, A; Gribouval, O; Jean, G; Niaudet, P; Schneider, JA; Town, MM; van't Hoff, W, 1996) |
| "Infantile nephropathic cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in various organs, including the kidney, cornea, thyroid, and brain." | ( Ballantyne, AO; Scarvie, KM; Trauner, DA, 1996) |
| "Nephropathic cystinosis is a metabolic disease related to lysosomal cystine accumulation in almost all tissues of the body." | ( Broyer, M, 2000) |
| "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) |
| "Nephropathic cystinosis is a lethal inborn error of metabolism that destroys kidney function by age 10 years." | ( Thoene, JG, 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) |
| "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) |
| "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) |
| "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) |
| "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) |
| "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) |
| "The genetic disease, nephropathic cystinosis is characterized by lysosomal accumulation of the amino acid cystine." | ( Cairns, D; Di Salvo, A; Kay, G; Knott, RM; Omran, Z, 2011) |
| "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) |
| "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) |
| "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) |
| "Patients with nephropathic cystinosis are required to take 6-hourly immediate-release cysteamine (Cystagon®) to reduce disease progression." | ( Cabrera, BL; Dohil, R, 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) |
| "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) |
| "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) |
| "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) |
| "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) |
| "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) |
| "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) |
| "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) |
| "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) |
| "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) |
| "The diagnosis of nephropathic cystinosis is generally based on measuring leukocyte cystine level, demonstration of corneal cystine crystals by the slit lamp examination and confirmed by genetic analysis of the CTNS gene." | ( Filatova, A; Levtchenko, E; Papizh, S; Prikhodina, L; Serzhanova, V; Skoblov, M; Tabakov, V; van den Heuvel, L, 2019) |
| "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) |
| "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) |
| "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) |
| "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) |
| "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) |
| "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) |
| "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) |
| "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) |
| Excerpt | Reference |
|---|
| "A patient with nephropathic cystinosis and end-stage renal disease was treated with cysteamine, both intravenously and orally." | ( Crawhall, JC; Olson, DL; Oshima, RG; Schneider, JA; Thoene, JG, 1976) |
| "A two-year-old boy with nephropathic cystinosis was successfully treated with cysteamine eye drops." | ( Gräf, M; Grote, A; Wagner, F, 1992) |
| "Three patients with nephropathic cystinosis and chronic renal disease, treated since early childhood with orally administered cysteamine, had an accelerated rate of rise of serum creatinine values after receiving recombinant human growth hormone." | ( Andersson, HC; Gahl, WA; Markello, T; Schneider, JA, 1992) |
| "A 2-year-old girl with nephropathic cystinosis was successfully treated with topical cysteamine 0." | ( Jones, NP; Noble, JL; Postlethwaite, RJ, 1991) |
| "We treated 93 children with nephropathic cystinosis with oral cysteamine (mean dose, 51." | ( Corden, BJ; Denman, DW; Gahl, WA; Jonas, AJ; Reed, GF; Rizzo, WB; Schlesselman, JJ; Schneider, JA; Schulman, JD; Thoene, JG, 1987) |
| "Three children with nephropathic cystinosis received cysteamine therapy, mostly in the form of phosphocysteamine, for more than six years." | ( Baten, E; Bruyneel, P; Hoogmartens, J; Proesmans, W, 1987) |
| "Three children with nephropathic cystinosis were treated with indomethacin 3 mg/kg a day for periods ranging from 9 to 18 months." | ( Al-Dahhan, J; Chantler, C; Haycock, GB; Mak, RH, 1982) |
| "A patient with nephropathic cystinosis developed gingival hyperplasia secondary to cyclosporine-A therapy for his renal allograft." | ( Cambria, RJ; Gordon, RE; Heller, AN; Heller, DS; Schwimmer, A, 1994) |
| "A 4-y-old boy with nephropathic cystinosis and gastrointestinal dysmotility of unknown etiology was treated with i." | ( Bernardini, I; Gahl, WA; Hyman, PE; Ingelfinger, J; Mohan, P; Tangerman, A, 1995) |
| "Early diagnosis and treatment of nephropathic cystinosis can change the course of this disease." | ( Gahl, WA, 2003) |
| "In this study, a 2-year-old girl with nephropathic cystinosis and severe gastrointestinal dysmotility was treated with intravenous (i." | ( Bendel-Stenzel, MR; Dohil, R; Kim, Y; Steinke, J, 2008) |
| "The full burden of nephropathic cystinosis in adulthood and the effects of long-term oral cysteamine therapy on its nonrenal complications have not been elucidated." | ( Balog, JZ; Gahl, WA; Kleta, R, 2007) |
| "Untreated nephropathic cystinosis causes extensive morbidity and death in adulthood." | ( Balog, JZ; Gahl, WA; Kleta, R, 2007) |
| "Long-term infantile nephropathic cystinosis can be associated with a form of sclerosing cholangitis, which can respond to therapy with ursodeoxycholic acid." | ( Cassiman, D; Claes, K; Cornelis, T; Gillard, P; Lombaerts, R; Nevens, F; Nijs, E; Roskams, T, 2008) |
| "The only specific treatment for nephropathic cystinosis is cysteamine bitartrate." | ( Bouazza, N; Chadefaux-Vekemans, B; Deschenes, G; Niaudet, P; Ottolenghi, C; Ricquier, D; Tréluyer, JM; Urien, S, 2011) |
| "Patients with infantile nephropathic cystinosis, the most common and most severe clinical form of cystinosis, commonly present with renal Fanconi syndrome by 6-12 months of age, and without specific treatment, almost all will develop end-stage renal disease (ESRD) by 10-12 years of age." | ( Ariceta, G; Giordano, V; Santos, F, 2019) |
| "The most common type is the infantile nephropathic cystinosis which without treatment leads to renal failure and before the introduction of cysteamine was the cause of death before puberty." | ( Durlik, M; Gałązka, Z; Gozdowska, J; Grenda, R; Kuczborska, K; Lewandowska, D; Nazarewski, S, 2019) |
| "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) |