An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
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| "Gaucher disease is an autosomal recessive sphingolipidosis associated with deficient glucocerebroside beta-glucosidase activity." | ( Bouillon, L; Choy, FY; Laurin, CA, 1987) |
| "Gaucher disease is a collection of related disorders of sphingolipid catabolism caused by the deficiency of a specific beta-glucosidase." | ( Barranger, JA; Kahn, AJ; Stowens, DW; Teitelbaum, SL, 1985) |
| "Gaucher disease is a group of lipid storage diseases in which the glycosphingolipid glucocerebroside accumulates in tissues because of deficiency of the enzyme glucocerebrosidase." | ( Gal, AE; Johnson, WG; Miranda, AF; Pentchev, PG, 1980) |
| "Gaucher disease is a sphingolipid storage disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase (GC) and the consequent deposition of glucocerebrosides into the cells of the macrophagic system." | ( Aggio, MC; Fernández, V; Marcilese, M, 1994) |
| "Gaucher disease is the most prevalent lysosomal storage disorder." | ( Agosti, E; Bembi, B; Boehm, P; Nassimbeni, G; Vidoni, L; Zanatta, M, 1994) |
| "Gaucher disease is the most frequent lysosomal storage disease and the most prevalent genetic disease among the Ashkenazi Jews (q approximately 0." | ( Grabowski, GA; Pastores, GM; Sibille, AR, 1993) |
| "Gaucher disease is a common glycolipid storage disease, caused by a deficiency of lysosomal beta-glucosidase (glucocerebrosidase)." | ( Beutler, E; Kuhl, W; Vaughan, LM, 1995) |
| "Gaucher disease is the most common lysosomal glycosphingolipid storage disease; decreased activity of glucosylceramide beta-glucosidase (GCase) results in the accumulation of glucocerebroside (GlcCer) in macrophage-derived cells." | ( Chaturvedi, P; Newburg, DS; Prence, EM, 1996) |
| "Gaucher disease is caused by insufficient activity of the enzyme glucocerebrosidase." | ( Brady, RO; Murray, GJ; Oldfield, EH; Sanchez, OA; Zirzow, GC, 1999) |
| "Gaucher disease is caused by an autosomal-recessive deficiency of glucocerebrosidase." | ( Häussinger, D; Mönnighoff, I; vom Dahl, S, 2000) |
| "Gaucher disease is a lysosomal storage disorder characterized by a deficiency of the enzyme acid beta-glucosidase." | ( Bindloss, CA; Dean, C; Fietz, MJ; Fong, BA; Hopwood, JJ; Meikle, PJ; Nelson, P; Ravenscroft, EM; Sharp, PC; Whitfield, PD, 2002) |
| "Gaucher disease is the first lysosomal storage disorder to be treated with macrophage-targeted enzyme replacement therapy." | ( Andersson, HC; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, P; Pastores, G; Rosenbloom, BE; Scott, CR; Wappner, RS; Weinreb, NJ; Zimran, A, 2002) |
| "Gaucher disease is a hereditary deficiency in glucocerebrosidase leading to glucosylceramide accumulation; however, Gaucher fibroblasts exhibited normal Golgi transport of lactosylceramide." | ( Butters, TD; Dwek, RA; Marks, DL; Pagano, RE; Platt, FM; Puri, V; Sillence, DJ, 2002) |
| "Gaucher disease is a lysosomal storage disorder caused by deficient lysosomal beta-glucosidase (beta-Glu) activity." | ( Balch, WE; Beutler, E; Cheng, WC; Kelly, JW; Sawkar, AR; Wong, CH, 2002) |
| "Type 1 Gaucher disease is considered the non-neuronopathic form of this autosomal recessively inherited lysosomal storage disease." | ( Aharon-Peretz, J; Baumann, N; MacKenzie, JJ; Rosenbaum, H; Sidransky, E; Simon, Z; Tayebi, N; Várkonyi, J; Walker, JM, 2003) |
| "Type 1 Gaucher disease is the commonest of these; the deficient enzyme in this condition is glucocerebrosidase." | ( Moyses, C, 2003) |
| "Gaucher disease is caused by an enzymatic defect with consequent accumulation of glucocerebroside." | ( Elstein, D; Zimran, A, 2003) |
| "Gaucher disease is a lysosomal storage disorder resulting from an inborn deficiency of glucocerebrosidase." | ( Hong, YB; Jung, SC; Kim, EY, 2004) |
| "Gaucher disease is an inherited metabolic disorder caused by defective activity of the lysosomal enzyme, glucocerebrosidase, resulting in accumulation of the lipids, glucosylceramide (GlcCer), and glucosylsphingosine (GlcSph)." | ( Futerman, AH; Lloyd-Evans, E; Pelled, D; Schiffmann, R; Sidransky, E; Trajkovic-Bodennec, S, 2005) |
| "Gaucher disease is an inherited metabolic disorder caused by mutations in the lysosomal enzyme acid-beta-glucosidase (GlcCerase)." | ( Boldin-Adamsky, S; Futerman, AH; Kelly, JW; Premkumar, L; Sawkar, AR; Silman, I; Sussman, JL; Toker, L, 2005) |
| "Gaucher disease is a lysosomal storage disorder caused by deficient glucocerebrosidase activity." | ( Adamski-Werner, SL; Beutler, E; Cheng, WC; Kelly, JW; Sawkar, AR; Wong, CH; Zimmer, KP, 2005) |
| "Treatment of Gaucher disease is a long-life treatment that the patient should not interrupt without a careful monitoring of the disease evolution." | ( Germain, DP; Mistry, P, 2006) |
| "Gaucher disease is the most common lysosomal storage disease." | ( Beutler, E, 2006) |
| "Gaucher disease is associated with increased red blood cell (RBC) aggregation, but the pathophysiological significance of this phenomenon and its correlation with disease manifestations are unclear." | ( Adar, T; Barshtein, G; Ben-Ami, R; Berliner, S; Elstein, D; Yedgar, S; Zimran, A, 2006) |
| "Gaucher disease is caused by a deficiency of glucocerebrosidase." | ( Hong, YB; Jung, SC; Kim, EY, 2006) |
| "Gaucher disease is an autosomal recessive lysosomal storage disorder caused by the deficient activity of glucocerebrosidase." | ( Asano, N; Chang, HH; Fan, JQ; Ichikawa, Y; Ishii, S, 2006) |
| "Gaucher disease is a lysosomal storage disorder caused by deficiency in lysosomal acid beta-glucosidase (GlcCerase), the enzyme responsible for the catabolism of glucosylceramide." | ( Chung, S; Do, H; Kornfeld, SA; Powe, A; Steet, RA; Wustman, B, 2006) |
| "Gaucher disease is a lysosomal glycolipid storage disorder characterized by defects in acid-beta-glucosidase (GlcCerase), the enzyme responsible for the catabolism of glucosylceramide." | ( Chung, S; Do, H; Kornfeld, S; Lee, WS; Pine, CW; Steet, R, 2007) |
| "Gaucher disease is caused by mutations in the gene encoding acid beta-glucosidase (GlcCerase), resulting in glucosylceramide (GlcCer) accumulation." | ( Aviezer, D; Brumshtein, B; Butters, TD; Futerman, AH; Greenblatt, HM; Shaaltiel, Y; Silman, I; Sussman, JL, 2007) |
| "Gaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the glucocerebrosidase gene." | ( Auld, D; Austin, CP; Goker-Alpan, O; Goldin, E; Inglese, J; Jadhav, A; LaMarca, ME; Padia, J; Sidransky, E; Simeonov, A; Urban, DJ; Zheng, W, 2007) |
| "Gaucher disease is a lysosomal storage disorder in which impaired breakdown of glucosylceramide leads to its accumulation in macrophages." | ( Ackermans, MT; Aerts, JM; Ghauharali, KJ; Groener, JE; Hollak, CE; Langeveld, M; Sauerwein, HP; Serlie, MJ, 2008) |
| "Gaucher disease is one of the most prevalent lysosomal disorders." | ( Ben Khelifa, S; Bonnet, V; Chkioua, L; Dandana, A; Ferchichi, S; Froissart, R; Jaidane, Z; Laradi, S; Maire, I; Miled, A; Monastiri, K, 2008) |
| "Gaucher disease is a multisystemic metabolic disorder arising from a deficiency of lysosomal glucocerebrosidase." | ( Mehta, A, 2008) |
| "Gaucher disease is rare in Japanese, approximately 100 cases having been reported; diagnosis at older age is also relatively rare and, as far as we know, the oldest age reported in Japanese was 57 years old." | ( Ida, H; Kato, A; Kawahara, S; Oshimi, K, 2008) |
| "Gaucher disease is the most prevalent inherited, lysosomal storage disease and is caused by deficient activity of the enzyme beta-glucocerebrosidase." | ( Gallowitsch, HJ; Hughes, DA; Kohlfürst, S; Kresnik, E; Lind, P; Mehta, AB; Mikosch, P, 2008) |
| "Gaucher disease is the first lysosomal disorder for which clinically effective enzyme replacement therapy has been introduced." | ( Aerts, JM; Belmatoug, N; Bembi, B; Cohen, Y; Collin-Histed, T; Cox, TM; Deegan, P; di Rocco, M; Giraldo, P; Hollak, CE; Hrebicek, M; Manuel, J; Mengel, E; Michelakakis, H; Parini, R; Pocovi, M; Reinke, J; Sa Miranda, MC; Tylki-Szymanska, A; van Dussen, L; vom Dahl, S; Zimran, A, 2010) |
| "Gaucher disease is a lysosomal storage disease caused by mutations in acid beta-glucosidase (GCase) leading to defective hydrolysis and accumulation of its substrates." | ( Grabowski, GA; Liou, B; Quinn, B; Ran, H; Sun, Y; Xu, YH, 2009) |
| "Gaucher disease is caused by defective acid beta-glucosidase (GCase) function." | ( Grabowski, GA; Hannun, YA; Kitatani, K; Liou, B; Ran, H; Skelton, MR; Sun, Y; Vorhees, CV; Williams, MT; Witte, DP; Xu, YH, 2010) |
| "Gaucher disease is caused by mutations in the gene that encodes the lysosomal enzyme acid beta-glucosidase (GCase)." | ( Benjamin, ER; Feng, J; Khanna, R; Lockhart, DJ; Lun, Y; Mahuran, DJ; Nafar, H; Palling, DJ; Pellegrino, L; Powe, AC; Ranes, BE; Rigat, BA; Schiffmann, R; Schilling, A; Soska, R; Valenzano, KJ; Wustman, BA, 2010) |
| "Fabry and Gaucher diseases are rare progressive inherited disorders of glycosphingolipid metabolism that affect multiple organ systems." | ( Bodamer, O; Bogner, W; Gruber, S; Krssak, M; Stadlbauer, A, 2011) |
| "Gaucher disease is caused by a deficiency of the lysosomal enzyme glucocerebrosidase (acid beta-glucosidase), with consequent cellular accumulation of glucosylceramide (GL-1)." | ( Cheng, SH; Chuang, WL; Copeland, DP; Grabowski, GA; Hutto, E; Marshall, J; McEachern, KA; Scheule, RK; Shayman, JA; Siegel, CS, 2010) |
| "Gaucher disease is an inherited defect of lysosomal functions caused by mutations in the GBA1 gene leading to accumulation of glucocerebroside, primarily in macrophages." | ( Cox, TM, 2010) |
| "Gaucher disease is caused by the defective activity of the lysosomal hydrolase, glucosylceramidase." | ( Futerman, AH; Krol, M; Offman, MN; Silman, I; Sussman, JL, 2010) |
| "Gaucher disease is a genetic disorder of sphingolipid metabolism resulting from dysfunction of the lysosomal membrane-associated glycoprotein glucocerebrosidase (GBA) and resulting in intracellular accumulation of glucosylceramide and other glycolipids." | ( Hughes, DA; Pastores, GM, 2010) |
| "Gaucher disease is a lysosomal storage disorder (LSD) caused by deficiency in the enzyme glucocerebrosidase (GC)." | ( Aungst, RA; Austin, CP; Goldin, E; Lea, WA; Leister, W; Marugan, JJ; Motabar, O; Sidransky, E; Simeonov, A; Southall, N; Stubblefield, BK; Westbroek, W; Zheng, W, 2011) |
| "Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: Type 1 (non-neuronopathic), Type 2 (acute neuronopathic), and Type 3 (subacute neuronopathic)." | ( Campbell, TN; Choy, FY, 2012) |
| "Gaucher disease is an autosomal recessively inherited storage disorder caused by deficiency of the lysosomal hydrolase, acid β-glucosidase." | ( Clarke, LA; Fuller, M; Hein, L; Hemmelgarn, H; Melrose, HL; Sanders, A, 2013) |
| "Gaucher disease is caused by the defective activity of the lysosomal enzyme, glucocerebrosidase (GCase; GBA1), resulting in intracellular accumulation of the glycosphingolipids, glucosylceramide and psychosine." | ( Bame, JR; Dobrenis, K; Duan, J; Farfel-Becker, T; Futerman, AH; Kelly, SL; Merrill, AH; Shinder, V; Vitner, EB, 2014) |
| "Gaucher disease is caused by mutations in the glucosidase, beta, acid gene that encodes glucocerebrosidase (GCase)." | ( Brady, RO; Lu, J; Swallows, CL; Xiao, H; Yang, C; Zhang, C; Zhuang, Z, 2014) |
| "Gaucher disease is the most common lysosomal storage disorder." | ( Chauhan, V; Kashyap, R; Kumar, RV; Mahesh, DM; Thakur, S, 2013) |
| "Gaucher disease is caused by mutations in the glucocerebrosidase gene, which encodes the lysosomal hydrolase glucosylceramidase." | ( Abramov, AY; Chau, KY; Cooper, JM; Foltynie, T; Gegg, M; Hughes, D; Magalhaes, J; McNeill, A; Mehta, A; Schapira, AH; Shen, C, 2014) |
| "Gaucher disease is caused by an inherited deficiency of glucocerebrosidase that manifests with storage of glycolipids in lysosomes, particularly in macrophages." | ( Aflaki, E; Dutra, A; Goldin, E; Lopez, G; Maniwang, E; Marugan, J; Moaven, N; Patnaik, S; Sidransky, E; Southall, N; Stubblefield, BK; Tayebi, N; Zheng, W, 2014) |
| "Gaucher disease is an autosomal recessive lysosomal disorder characterized by the accumulation of glucosylceramide as a result of a deficiency of the enzyme glucocerebrosidase." | ( Aerts, JM; Bujons, J; Casas, J; Delgado, A; Díaz, L; Grinberg, D; Gutiérrez-de Terán, H; Mavridou, I; Michelakakis, H; Sánchez-Ollé, G; Serra-Vinardell, J; Vilageliu, L, 2014) |
| "Gaucher disease is caused by genetic deficiency of acid β-glucosidase, the natural substrates of which (β-d-glucosylceramide and β-d-glucosylsphingosine) accumulate, principally in macrophages." | ( Aerts, JM; Archer, J; Cox, TM; Dekker, N; Karlsson, S; Pavlova, EV; Wang, S, 2015) |
| "Gaucher disease is associated with Parkinson's disease (PD) by mutations in glucocerebrosidase (GCase)." | ( Hashimoto, M; Li, P; Li, Y; Liang, H; Wei, J; Zhao, Z, 2015) |
| "Gaucher disease is caused by a deficiency of the enzyme β-glucocerebrosidase." | ( Serratrice, C; Serratrice, J; Swiader, L, 2015) |
| "Gaucher disease is an autosomal recessive disease, caused by a lack or functional deficiency of the lysosomal enzyme, glucocerebrosidase (GCase)." | ( Alvarez-Fischer, D; Andreas, H; Hirsch, EC; Höglinger, GU; Höllerhage, M; Lu, L; Noelker, C; Oertel, WH; Roscher, R; Sturn, A; Vulinovic, F, 2015) |
| "Gaucher disease is an autosomal recessive lysosomal storage disorder, caused by mutations in the GBA gene." | ( Grinberg, D; Vilageliu, L, 2017) |
| "Gaucher disease is one of the most common lipid-storage disorders, affecting approximately 1 in 75,000 births." | ( Di Francesco, E; Di Raimondo, F; Fiumara, A; Giuffrida, G; Lombardo, R; Parrinello, L, 2016) |
| "Gaucher disease is an inherited metabolic disease characterized by β-glucocerebrosidase deficiency and commonly treated with enzyme replacement therapy (ERT)." | ( Dinh, Q; Elstein, D; Gonzalez, DE; Lukina, EA; Qin, Y; Turkia, HB; Zimran, A, 2018) |
| "Gaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase." | ( Bezard, E; Daly, L; Migdalska-Richards, A; Schapira, AH, 2016) |
| "Gaucher disease is a hereditary lipid storage disorder that affects the enzyme beta glucocerebrosidase, causing accumulation of glucocerebroside in macrophages of the reticuloendothelial system." | ( Ayyala, RS; Perez Rossello, JM; Teot, LA, 2017) |
| "Type 1 Gaucher disease is a rare genetic disease characterized by enzymatic deficit leading to glucosylceramide overload in body tissues (lysosomal overload disease)." | ( Becquemont, L, 2017) |
| "Gaucher disease is a lysosomal storage disorder caused by a deficiency in glucocerebrosidase activity that leads to accumulation of glucosylceramide and glucosylsphingosine." | ( Adams, MK; Hein, LK; Hopwood, JJ; Karageorgos, L; Rozaklis, T, 2017) |
| "Gaucher disease is a lysosomal storage disease characterized by the malfunction of glucocerebrosidase resulting in the accumulation of glucosylceramide and other sphingolipids in certain cells." | ( Batta, G; Bozó, T; Kellermayer, M; Kovács, T; Mészár, Z; Nagy, P; Soltész, L; Szöllősi, J, 2018) |
| "Gaucher disease is a lipid storage disorder due to deficiency of beta glucocerebrosidase." | ( Aydogdu, I; Berber, I; Buran, T; Erdem, N, 2018) |
| "Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes." | ( Ankleshwaria, C; Bhavsar, R; Mistri, M; Nath, P; Pancholi, D; Phadke, S; Puri, R; Sheth, F; Sheth, J, 2018) |
| "Gaucher Disease is caused by mutations of the GBA gene which encodes the lysosomal enzyme acid beta-glucosidase (GCase)." | ( Aerts, JFMG; Bembi, B; Bornaes, C; Dardis, A; Fog, CK; Kirkegaard, T; Magnoni, R; Malini, E; Mehmedbasic, A; Peruzzo, P; Petersen, NHT; Solanko, LM; Zago, P, 2018) |
| "As Gaucher disease is also associated with Parkinsons disease and may also confer an increased risk of malignancy (particularly haematological forms and melanoma), any ocular abnormalities should be fully investigated to exclude these potential underlying conditions." | ( Ospina, LH; Roos, JCP; Salimi, A; Winter, AW, 2019) |
| "Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect." | ( Bavdekar, A; Bhatwadekar, S; Bhavsar, R; Dalal, A; Danda, S; Datar, C; Girisha, KM; Goyal, M; Kapoor, S; Kaur, A; Mistri, M; Muranjan, M; Nampoothiri, S; Pancholi, D; Panigrahi, I; Phadke, S; Puri, R; Ramadevi, R; Ranganath, P; Shah, R; Sheth, F; Sheth, J; Shukla, A, 2019) |
| "Gaucher disease is caused by inherited deficiency in glucocerebrosidase (GBA, a retaining β-glucosidase), and deficiency in GBA constitutes the largest known genetic risk factor for Parkinson's disease." | ( Aerts, JMFG; Artola, M; Boot, RG; Codée, JDC; Davies, GJ; Kuo, CL; Lelieveld, LT; Overkleeft, HS; Rowland, RJ; van der Marel, GA, 2019) |
| "Gaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the gene GBA1, which encodes the lysosomal protein glucocerebrosidase." | ( Eghbali, A; FitzGibbon, E; Hassan, S; Seehra, G; Sidransky, E, 2019) |
| "Gaucher disease is a lysosomal storage disease in which a genetic deficiency in β-glucocerebrosidase leads to the accumulation of glycosphingolipids in lysosomes." | ( Castro, H; Macedo, MF; Ribeiro, H; Rocha, MI, 2020) |
| "Gaucher disease is a genetic deficiency of lysosomal enzyme glucocerebrosidase, which results in the accumulation of glucocerebroside in the macrophages in the reticuloendothelial cells of the spleen, liver, and bone marrow." | ( Erdil, TY; Kesim, S; Ozguven, S; Turoglu, HT; Tutar, E, 2020) |
| "Gaucher disease is an inherited lysosomal storage disorder caused by an insufficiency of active β-glucocerebrosidase (GCase)." | ( Fujiyama, K; Kajiura, H; Misaki, R; Uthailak, N, 2022) |
| "Gaucher disease is an autosomal recessive inborn error of metabolism that causes disorders of blood, bone, and central nervous system as well as hepatosplenomegaly." | ( Fujiwara, A; Hasuo, Y; Hayase, C; Kashinoura, K; Kawarabayashi, Y; Ogawa, S; Sugiura, T; Taura, Y; Yo, T, 2022) |
| "Gaucher disease is a genetic disorder and the most common lysosomal disease caused by the deficiency of enzyme β-glucocerebrosidase (GCase)." | ( Cadena-Nava, RD; Chauhan, K; Juárez-Moreno, K; Olivares-Medina, CN; Rodríguez-Hernández, AG; Vazquez-Duhalt, R; Villagrana-Escareño, MV, 2022) |