An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
| Excerpt | Reference |
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| "Fabry disease is an X-linked lysosomal storage disease caused by a mutation in the galactosidase alpha (GLA) gene." | ( Cho, HJ; Kim, HW; Kim, JW; Kim, TM; Kim, YK; Lee, JY; Nam, SA, 2021) |
| "Fabry disease is an X-linked multisystemic disorder caused by the impairment of lysosomal α-Galactosidase A, which leads to the progressive accumulation of glycosphingolipids and to defective lysosomal metabolism." | ( Arévalo-Gómez, A; Besada, P; Fernández-Martín, J; Gallardo-Gómez, M; Ortolano, S; Pantano, S; Patiño-Álvarez, L; Pérez-Márquez, T; Ruz-Zafra, A; Silva-López, C; Terán, C, 2021) |
| "Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene." | ( Herrmann, K; Jovanovic, A; Vardarli, I; Weidemann, F, 2022) |
| "Fabry disease is an inherited lysosomal disorder caused by mutations in the alpha-galactosidase A gene." | ( Chin-Kanasaki, M; Imamura-Uehara, Y; Kato, K; Kume, S; Kuwagata, S; Maegawa, H; Nakagawa, Y; Ohno, S; Takeda, N; Yamahara, K; Yasuda-Yamahara, M, 2022) |
| "Fabry disease is caused by a deficiency of lysosomal alpha galactosidase and has a very large genotypic and phenotypic spectrum." | ( Allocca, M; Andreotti, G; Bosso, A; Cubellis, MV; Hay Mele, B; Liguori, L; Lukas, J; Monti, MC; Monticelli, M; Morretta, E, 2022) |
| "Because (i) Fabry disease is a rare disorder that frequently causes kidney damage, and (ii) a new therapeutic is currently available, it is necessary to review wich biomarkers are useful for nephropathy follow-up among Fabry "amenable" patients receiving migalastat." | ( Conde, H; Gonzalez Schain, A; Jaurretche, S; Ruiz, F; Sgro, MV; Venera, G, 2022) |
| "Fabry disease is a rare genetic disease that is part of a group of conditions called lysosomal storage diseases." | ( Azevedo, O; Bento, D; Costa, H; Fernandes, RM; Jesus, I; Marques, N; Mota, T; Santo, ME; Silva, DC, 2023) |
| "Fabry disease is a progressive multisystemic disease, which affects the kidney and cardiovascular systems." | ( Clayton, PT; Doykov, ID; Hällqvist, J; Heywood, WE; Mills, K; Mills, P; Nikolaenko, V; Nowak, A; Śpiewak, J; Warnock, DG, 2020) |
| "Fabry disease is one of the causes of left ventricular hypertrophy (LVH) and can be treated with enzyme replacement therapy or pharmacological chaperone therapy." | ( Anan, I; Eto, Y; Hongo, K; Ida, H; Kawai, M; Kobayashi, H; Kobayashi, M; Morimoto, S; Nojiri, A; Ohashi, T; Sakuma, T; Shibata, T; Yoshimura, M, 2020) |
| "Fabry disease is a progressive X-linked lysosomal disorder." | ( Barth, JA; Castelli, JP; Hamazaki, T; Lagast, H; Narita, I; Ohashi, T; Sakai, N; Skuban, N, 2020) |
| "Fabry disease is a rare X-linked genetic disorder in which cardiac manifestations include LVH, contractile dysfunction, and fibrosis, visible on cardiac MRI (cMRI) as late gadolinium enhancement (LGE) of the myocardium." | ( Ingles, J; Lal, S; Moonen, A; Puranik, R; Semsarian, C; Yeates, L, 2020) |
| "Fabry disease is one of the most common lysosomal storage disorders caused by mutations in the gene encoding lysosomal α-galactosidase A (α-Gal A) and resultant accumulation of glycosphingolipids." | ( Bunschkowski, M; Cimmaruta, C; Cubellis, MV; Hermann, A; Hund, C; Iwanov, K; Liguori, L; Lukas, J; Pantoom, S; Petters, J; Rolfs, A, 2020) |
| "Fabry disease is an X-linked disease due to a deficiency of the lysosomal enzyme alpha-galactosidase A." | ( Politei, J, 2020) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene leading to a deficiency of the enzyme alpha-galactosidase A (α-Gal A)." | ( Kimonis, V; Tapia, D, 2021) |
| "Fabry disease is a rare, progressive, X-linked inherited storage disorder due to absent or deficient of lysosomal alfa galactosidase A activity." | ( Arslan, N; Çavuşoğlu, Y; Demir, M; Kahveci, G; Ökçün, EÖB; Onay, H; Özpelit, E; Tufekcioglu, O; Tülüce, SY; Yıldırım, GK, 2020) |
| "Fabry disease is a rare lysosomal storage disorder characterized by a deficiency of α-galactosidase A (GLA), a lysosomal hydrolase." | ( Abasolo, I; Cámara-Sánchez, P; Corchero, JL; Córdoba, A; Cristóbal-Lecina, E; Danino, D; Díaz-Riascos, ZV; García-Aranda, N; González-Mira, E; González-Rioja, R; Ionita, I; Lyngsø, J; Merlo-Mas, J; Nedergaard Pedersen, J; Passemard, S; Pedersen, JS; Portnaya, I; Pulido, D; Royo, M; Sala, S; Schwartz, S; Tomsen-Melero, J; Veciana, J; Ventosa, N, 2021) |
| "Fabry disease is a hereditary genetic defect resulting in reduced activity of the enzyme α-galactosidase-A and the accumulation of globotriaosylceramide (Gb3) in body fluids and cells." | ( Gatterer, C; Graf, S; Haider, P; Hohensinner, PJ; Kaun, C; Lenz, M; Maier, N; Podesser, BK; Salzmann, M; Speidl, WS; Sunder-Plassmann, G; Wojta, J, 2021) |
| "Fabry disease is a complex, panethnic lysosomal storage disorder." | ( Abaoui, M; Auray-Blais, C; Boutin, M; Lavoie, P, 2017) |
| "BACKGROUND Fabry disease is a rare and progressive X-linked inherited disorder of glycosphingolipid metabolism that is due to deficient or absent lysosomal a-galactosidase A activity." | ( Cokan Vujkovac, A; Keber, T; Mravljak, M; Ravber, K; Tretjak, M; Vujkovac, B, 2017) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α -galactosidase A which leads to progressive intracellular accumulation of globotriaosylceramide in tissues and organs including heart, kidney, vascular endothelium, the nervous system, the eyes and the skin." | ( Kramer, J; Weidemann, F, 2018) |
| "Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells." | ( Choi, IH; Choi, JH; Desnick, RJ; Go, H; Heo, SH; Jung, JY; Jung, SC; Kang, E; Kang, M; Kim, GH; Kim, JM; Kim, KY; Kim, YM; Lee, BH; Yoo, HW, 2017) |
| "Fabry disease is a glycosphingolipidosis caused by deficient activity of α-galactosidase A; it is one of a few diseases that are associated with priapism, an abnormal prolonged erection of the penis." | ( Arning, E; Bottiglieri, T; Chen, S; Cheng, SH; Day, TS; Jabbarzadeh-Tabrizi, S; Meng, XL; Schiffmann, R; Schneider, JW; Shen, JS; Wight-Carter, M; Ziegler, RJ, 2018) |
| "A main feature of Fabry disease is nephropathy, with polyuria an early manifestation; however, the mechanism that underlies polyuria and affected tubules is unknown." | ( Guili, C; Imai, N; Ishii, S; Ito, Y; Maruyama, H; Mikame, M; Nakagawa, T; Nameta, M; Narita, I; Nishikawa, Y; Taguchi, A; Ueno, M; Yamaguchi, Y, 2018) |
| "Fabry disease is a rare genetic lysosomal storage disease, inherited in an X-linked manner, characterized by lysosomal deposition of globotriaosylceramide due to deficient activity of the enzyme α-galactosidase A." | ( Alfano, G; Cappelli, G; Cerami, C; Fontana, F; Ganda, N; Mori, G, 2018) |
| "Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea." | ( Barisoni, L; Barth, JA; Bichet, DG; Castelli, JP; Colvin, RB; Feldt-Rasmussen, U; Giugliani, R; Holdbrook, F; Hughes, DA; Jennette, JC; Jovanovic, A; Mulberg, A; Nicholls, K; Schiffmann, R; Shankar, SP; Skuban, N, 2018) |
| "Fabry disease is caused by a deficiency of the lysosomal enzyme α-galactosidase, resulting in progressive accumulation of globotriaosylceramide (GL-3)." | ( Baron, R; Elliott, PM; Falissard, B; Germain, DP; Hilz, MJ; Monserrat, L; Spada, M; Tylki-Szymańska, A; Tøndel, C; Wanner, C, 2019) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene coding for α-galactosidase A (α-GalA)." | ( Garzotti, M; Groenen, PMA; Morand, O; Mühlemann, A; Probst, MR; Rickert, V; Üçeyler, N; Welford, RWD, 2018) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase enzyme deficiency." | ( Alberton, V; Amoreo, O; Antongiovanni, N; Arán, MN; Barán, M; Cabrera, G; Di Pietrantonio, S; Durand, C; Fainboim, A; Frabasil, J; Iotti, R; Liern, M; Perretta, F; Pizarro, FG; Politei, J; Ripeau, D; Rivas, DV; Schenone, AB; Toniolo, F; Trimarchi, H; Wallace, E, 2018) |
| "Fabry disease is a lysosomal storage disorder resulting from impaired alpha-galactosidase A (α-Gal A) enzyme activity due to mutations in the GLA gene." | ( Benzing, T; Blomberg, L; Braun, F; Frech, LE; Hoehne, M; Kurschat, CE; Rinschen, MM; Schermer, B; Slaats, GG, 2018) |
| "Fabry disease is an X-linked disease caused by mutations in α-galactosidase A (GLA); these mutations result in the accumulation of its substrates, mainly globotriaosylceramide (Gb3)." | ( Higo, T; Ito, M; Komuro, I; Kuramoto, Y; Lee, JK; Miyagawa, S; Naito, AT; Nakagawa, A; Okada, K; Sakai, T; Sakata, Y; Sawa, Y; Shibamoto, M; Tojo, H; Yamaguchi, T, 2018) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by mutations in GLA, which encodes the enzyme α-galactosidase A (α-Gal A)." | ( Aoki, S; Araki, M; Hosomi, N; Ishii, S; Kinoshita, N; Kitamura, T; Maruyama, H; Matsumoto, M; Matsushima, H; Nakamori, M; Nezu, T; Shimomura, R; Sueda, Y; Torii, T; Yagita, Y; Yamawaki, T, 2018) |
| "Fabry disease is characterized by deficient expression/activity of α-GalA with consequent lysosomal accumulation in various organs of its substrate Gb3." | ( Bertoldi, G; Calò, LA; Carraro, G; Davis, PA; Landini, L; Maiolino, G; Martinato, M; Pagnin, E; Ravarotto, V; Simioni, F, 2018) |
| "Fabry disease is an X-linked lysosomal storage disorder and shows globotriosylceramide (Gb3) accumulation in multiple organs, resulting from a deficiency of α-galactosidase." | ( Goto, H; Katsuta, H; Tsuboi, K; Yamamoto, H, 2018) |
| "Anderson-Fabry disease is a rare X-linked lysosomal storage disease caused by α-galactosidase A (α-GalA) gene variants and characterized by a large genotypic and phenotypic spectrum." | ( Ebato, M; Ikeda, N; Iso, Y; Maezawa, H; Mizukami, T; Nogi, A; Suzuki, H; Tsujiuchi, M, 2019) |
| "Fabry disease is an X-linked recessive lysosomal disorder caused by deficient enzymatic activity of α-galactosidase A (α-Gal A)." | ( Cui, G; Huang, J; Wang, DW; Zeng, H; Zhou, C; Zhou, Q, 2018) |
| "Fabry disease is a progressive disease characterized by an enzymatic deficiency of acid alpha-galactosidase and glycosphingolipids storage within the lysosomes." | ( Amaral, FGD; Cipolla-Neto, J; D'Almeida, V; Vallim, JRDS, 2019) |
| "Fabry disease is a rare lysosomal disorder characterized by deficient or absent α-galactosidase A activity resulting from mutations in the GLA gene." | ( McCafferty, EH; Scott, LJ, 2019) |
| "Fabry disease is an X-linked lysosomal storage disease caused by loss of alpha galactosidase A (α-Gal A) activity and is characterized by progressive accumulation of globotriaosylceramide and its analogs in all cells and tissues." | ( Benenato, KE; Besin, G; Burke, K; Finn, PF; Frassetto, A; Guey, LT; Levy, B; Lukacs, CM; Lynn, A; Martini, PGV; Milano, J; Milton, J; Presnyak, V; Sabnis, S; Salerno, T; Siddiqui, S; Theisen, M; Yin, L; Zhu, X; Zhuo, J, 2019) |
| "Fabry disease is a rare, X-linked, lifelong progressive lysosomal storage disorder." | ( An Haack, K; Bénichou, B; Bichet, DG; Clarke, LA; Dostalova, G; Fainboim, A; Fellgiebel, A; Forcelini, CM; Hopkin, RJ; Mauer, M; Najafian, B; Ramaswami, U; Scott, CR; Shankar, SP; Thurberg, BL; Tylki-Szymanska, A; Tøndel, C; Wijburg, FA, 2019) |
| "Fabry disease is a lysosomal storage disorder caused by mutations in the GLA gene that encodes for the lysosomal enzyme α-galactosidase A (α-Gal A)." | ( Gurevich, A; Meiyappan, M; Oommen, S; Qiu, Y; Zhou, Y, 2019) |
| "Fabry disease is characterized by deficient activity of α-galactosidase A, which results in accumulation of glycolipids, such as globotriaosylceremide, in various tissue." | ( Ohashi, T, 2019) |
| "- Fabry disease is a rare X-linked inherited lysosomal storage disease affecting multiple organ systems, presenting in the central nervous system (CNS) as white matter lesions with underlying cerebral vasculopathy and autoinflammatory changes of the choroid plexus and leptomeninges." | ( Bašić Kes, V; Jadrijević Tomas, A; Jurašić, MJ; Lisak, M; Zavoreo, I, 2018) |
| "Fabry disease is a rare inborn error of the enzyme α-galactosidase (Α-Gal) and results in lysosomal substrate accumulation in tissues with a wide range of clinical presentations." | ( Mignani, R, 2019) |
| "Fabry disease is a lysosomal storage disease belonging to the group of sphingolipidoses." | ( Azevedo, O; Dias, AF; Macedo, MF; Maia, ML; Pereira, CS; Sa-Miranda, C, 2013) |
| "Fabry disease is a progressive devastating disease caused by absent or deficient activity of lysosomal enzyme alpha-galactosidase A, with progressive accumulation of globotriaosylceramide (GL-3) within lysosomes in a different cell types." | ( Basic-Jukic, N; Basic-Kes, V; Coric, M; Kes, P, 2013) |
| "Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism." | ( El Dib, RP; Nascimento, P; Pastores, GM, 2013) |
| "Fabry disease is an X-linked lysosomal disorder (LD) due to deficiency of the enzyme α-galactosidase A (αGal), which leads to the accumulation of neutral glycosphingolipids, mainly globotriaosylceramide (Gb3)." | ( Ceci, R; De Francesco, PN; Fossati, CA; Mucci, JM; Rozenfeld, PA, 2013) |
| "Fabry disease is an X-linked inborn error of metabolism, which is caused by the deficiency of α-galactosidase A, leading to progressive accumulation of neutral glycosphingolipids and a-galactosyl breakdown products in most body fluids and several tissues, resulting in the clinical manifestations." | ( Costa, RS; Dantas, M; Júnior, WM; Lourenço, CM; Muñoz, V; Rolfs, A; Romão, EA; Silva, GE; Vieira Neto, OM, 2013) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A, which results in the progressive accumulation of glycosphingolipids." | ( Auray-Blais, C; Boutin, M; Manwaring, V, 2013) |
| "Fabry disease is a lysosomal storage disorder in which neutral glycosphingolipids, predominantly Gb3 (globotriaosylceramide), accumulate due to deficient α-Gal A (α-galactosidase A) activity." | ( Ishii, S; Kulkarni, AB; Maruyama, H; Matsuda, J; Nameta, M; Taguchi, A; Yamamoto, T; Yoshioka, H, 2013) |
| "Fabry disease is an X-linked inherited lysosomal storage disease that can be treated with the enzymes of agalsidase beta (Fabrazyme) and agalsidase alfa (Replagal)." | ( Chiang, CC; Hsu, TR; Huang, CK; Huang, YH; Lee, LH; Lee, PC; Li, CF; Li, ST; Liao, HC; Lin, HY; Lin, SP; Liu, HC; Niu, DM; Shen, CI, 2014) |
| "Fabry disease is a multisystemic, X-linked lysosomal storage disorder caused by a deficit in α-galactosidase A enzyme activity leading to glycosphingolipid accumulation, mainly globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3)." | ( Auray-Blais, C; Boutin, M, 2014) |
| "Anderson-Fabry disease is an X-linked disorder, and genetic testing is critical for the diagnosis of AFD in women." | ( Mullen, J; Oudit, GY; Putko, BN; Sergi, C; Shanks, M; Thompson, RB; Wen, K; Yogasundaram, H, 2015) |
| "Fabry disease is an X-linked lysosomal storage disorder affecting both males and females with tremendous genotypic/phenotypic variability." | ( Auray-Blais, C; Bichet, DG; Blais, CM; Bodamer, O; Boutin, M; Clarke, JT; Dyack, S; Echevarria, L; Germain, DP; Lavoie, P; Pintos-Morell, G; Ramaswami, U; Warnock, DG; West, ML, 2015) |
| "Fabry disease is an X-linked recessive disorder caused by the loss of function of the lysosomal enzyme α-Galactosidase-A." | ( Arvatz, G; Aviezer, D; Azulay, Y; Hainrichson, M; Kizhner, T; Ruderfer, I; Shaaltiel, Y; Shulman, A; Tekoah, Y, 2015) |
| "Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy." | ( Choi, L; Clayton, PT; Kopach, O; Meert, T; Mills, K; Minett, MS; Vernon, J; Wood, JN, 2015) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the gene encoding the α-galactosidase A (α-Gal A) lysosomal enzyme, which results in globotriaosylceramide (Gb3) storage in vascular endothelial cells and different cell types throughout the body." | ( Jeon, YJ; Jung, N; Jung, SC; Park, HY; Park, JW; Shin, YJ, 2015) |
| "Fabry disease is an X-linked glycosphingolipidosis caused by deficient synthesis of the enzyme α-galactosidase A, which results in accumulations of globotriaosylceramide (GL-3) in systemic tissues." | ( Aoyagi, J; Betsui, H; Ito, T; Kanai, T; Odaka, J; Saito, T; Yamagata, T, 2016) |
| "Fabry disease is a lysosomal storage disorder leading to the accumulation of glycosphingolipids in biological fluids and tissues." | ( Abaoui, M; Auray-Blais, C; Boutin, M; Lavoie, P, 2016) |
| "Fabry disease is a rare metabolic glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme α-galactosidase A--leading to cellular accumulation of globotriasylceramide in different organs, vessels, tissues, and nerves." | ( Bollinger, B; Feldt-Rasmussen, U; Granqvist, H; Højgaard, L; Korsholm, K; Law, I; Rasmussen, AK, 2015) |
| "Fabry disease is caused by deficient activity of α-galactosidase A (GLA) and characterized by systemic accumulation of glycosphingolipids, substrates of the enzyme." | ( Aoki, M; Sakuraba, H; Sueoka, H; Togawa, T; Tsukimura, T, 2015) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in the accumulation of glycosphingolipids in various organs." | ( Alharbi, FJ; Geberhiwot, T; Hughes, DA; Ward, DG, 2016) |
| "Fabry disease is caused by deficient activity of α-galactosidase A and subsequent intracellular accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3)." | ( Ashcraft, P; Cheng, SH; Day, TS; Frischmuth, T; Liu, ZP; McNeill, N; Meng, XL; Schiffmann, R; Shen, JS, 2016) |
| "Fabry disease is a lysosomal storage disorder due to abnormalities in the GLA gene (Xq22)." | ( Labilloy, A; Monte Neto, JT; Monte, SJ; Pereira, EM; Silva, AS, 2016) |
| "The severity of Fabry disease is dependent on the type of mutation in the α-galactosidase A (AgalA) encoding gene (GLA)." | ( Ertl, G; Hu, K; Liu, D; Nordbeck, P; Oder, D; Petritsch, B; Sommer, C; Üçeyler, N; Wanner, C, 2016) |
| "Fabry disease is an X-linked lysosomal disorder caused by decreased activity of α-galactosidase A (GLA)." | ( Ito, S; Kamei, K; Matsuoka, K; Ogura, M; Warnock, DG, 2016) |
| "Fabry disease is caused by mutations in the α-galactosidase A (GLA) gene, which is located in X-chromosome coding for the lysosomal enzyme of GLA." | ( Hayashi, T; Kiko, Y; Kimura, A; Kobayashi, A; Nakano, H; Nakazato, K; Oikawa, M; Saitoh, S; Sakamoto, N; Suzuki, H; Suzuki, S; Takeishi, Y; Yamaki, T; Yoshihisa, A, 2016) |
| "Fabry disease is caused by mutations in the GLA gene that lower α-galactosidase A activity to less than 25-30% of the mean normal level." | ( Aerts, JM; Clarke, LA; Fuller, M; Schiffmann, R, 2016) |
| "Fabry disease is a rare disorder that results in a deficiency or absence of α-galactosidase, leading to accumulation of globotriaosylceramide in the lysosomes of various cells." | ( Markham, A, 2016) |
| "Fabry disease is a genetic lysosomal storage disease caused by deficiency of α-galactosidase, the enzyme-degrading neutral glycosphingolipid that is transported to lysosome." | ( Lee, HJ; Park, HH; Park, JH; Park, TH; Rhee, WJ; Ryu, J; Sohn, Y, 2016) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by the absence or reduction of the enzyme α-galactosidase A activity." | ( Abaoui, M; Auray-Blais, C; Boutin, M; Lavoie, P, 2016) |
| "Fabry disease is an X-linked lysosomal storage disorder, caused by a deficit in α-galactosidase A enzyme activity, leading to the storage of sphingolipids such as globotriaosylsphingosine (lyso-Gb3 ), globotriaosylceramide (Gb3 ), and galabiosylceramide (Ga2 ) in organs, tissues and biological fluids." | ( Abaoui, M; Auray-Blais, C; Boutin, M; Lavoie, P, 2016) |
| "Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism." | ( Barreto, FC; Barretti, P; Bazan, R; Camargo, SE; Carvalho, RP; El Dib, R; Gomaa, H, 2016) |
| "Fabry disease is a glycosphingolipid storage disorder that is caused by a genetic deficiency of the enzyme alpha-galactosidase A (AGA, EC 3." | ( Brady, RO; Hanover, JA; Kaneski, CR; Schueler, UH, 2016) |
| "Fabry disease is a lysosomal storage disorder leading to glycosphingolipid accumulation in different organs, tissues and biological fluids." | ( Au, B; Auray-Blais, C; Boutin, M; Dworski, S; Medin, JA; Provençal, P, 2016) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene." | ( Barlow, C; Barth, J; Benjamin, ER; Bichet, DG; Bond, S; Bronfin, B; Castelli, J; Della Valle, MC; Desnick, RJ; Germain, DP; Giugliani, R; Hughes, D; Katz, E; Kirk, J; Lockhart, DJ; Pruthi, F; Schiffmann, R; Valenzano, KJ; Wilcox, WR; Williams, H; Wu, X; Yu, J, 2017) |
| "Fabry disease is characterized by early occurrence of increased uCD80 excretion that appears to be a consequence of glycolipid accumulation." | ( Andrews, J; Canzonieri, R; Costales-Collaguazo, C; Forrester, M; Iriarte, R; Lombi, M; Muryan, A; Ortiz, A; Paulero, M; Politei, J; Pomeranz, V; Rengel, T; Sanchez-Niño, MD; Schiel, A; Stern, A; Trimarchi, H; Zotta, E, 2016) |
| "Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency." | ( Biamino, E; Giachero, S; Kasper, D; Pagliardini, V; Porta, F; Spada, M, 2017) |
| "Fabry disease is caused by deficient activity of α-galactosidase A and subsequent accumulation of glycosphingolipids (mainly globotriaosylceramide, Gb3), leading to multisystem organ dysfunction." | ( Arning, E; Ashcraft, P; Bottiglieri, T; Chen, S; Cheng, SH; Day, TS; Forni, S; Goker-Alpan, O; McNeill, N; Meng, XL; Moore, DF; Schiffmann, R; Shen, JS; Wang, X; West, ML, 2017) |
| "Fabry disease is an X-linked glycosphingolipidosis caused by a deficiency of α-galactosidase A, a lysosomal enzyme." | ( Abe, JT; Cohen, AH; Wang, RY; Wilcox, WR, 2008) |
| "Fabry disease is a lysosomal storage disorder that is caused by mutations in the gene encoding a-galactosidase A on Xq22." | ( Uyama, E, 2008) |
| "Fabry disease is caused by the deficiency of lysosomal alpha-galactosidase A (alpha-gal A) and usually develops clinical manifestations during childhood/adolescence." | ( Fukunaga, Y; Hanawa, H; Hirai, Y; Ishizaki, M; Ogawa, K; Shimada, T; Takahashi, H, 2009) |
| "Fabry disease is an inborn error of glycosphingolipid metabolism caused by deficiency of alpha-galactosidase A (alpha-Gal A) activity." | ( Chang, HH; Fan, JQ; Higuchi, Y; Ishii, S; Mannen, K; Shimada, T; Taguchi, A; Yoshioka, H, 2009) |
| "Fabry disease is a complex, multisystemic and clinically heterogeneous disease with prominent urinary excretion of globotriaosylceramide (Gb(3)), the principal substrate of the deficient enzyme, alpha-galactosidase A." | ( Auray-Blais, C; Clarke, JT; Millington, DS; Schiffmann, R; Young, SP, 2009) |
| "Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a deficiency in the activity of the lysosomal enzyme, alpha-galactosidase A." | ( Beck, M; Pintos-Morell, G, 2009) |
| "Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha galactosidase A (AGAL, EC 3." | ( Browning, MF; Cullen, E; Keutzer, J; Olivova, P; Rose, M; Sims, KB; van der Veen, K; Zhang, XK, 2009) |
| "Fabry disease is an X-linked lysosomal storage disorder of glycosphingolipid catabolism due to the deficient activity of the enzyme alpha-galactosidase A." | ( Agriello, E; De Francesco, N; Fossati, C; Martinez, P; Rozenfeld, P, 2009) |
| "Fabry disease is an X-linked disorder that results from the deficiency of the lysosomal enzyme alpha-galactosidase A." | ( Borrajo, GJ; Ceci, R; De Francesco, NP; Fossati, CA; Rozenfeld, PA, 2009) |
| "Fabry disease is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the gene encoding the alpha-galactosidase A (GLA) enzyme." | ( Kim, GH; Kim, SS; Ko, JM; Lee, JJ; Park, JY; Yoo, HW, 2009) |
| "Anderson-Fabry disease is a multisystem X linked disorder of lipid metabolism frequently associated with cardiac symptoms, including left ventricular (LV) hypertrophy gradually impairing cardiac function." | ( Capuano, E; Cianciaruso, B; Cuocolo, A; Imbriaco, M; Liuzzi, R; Marmo, M; Messalli, G; Pisani, A; Salvatore, M; Spinelli, L; Visciano, B, 2009) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the gene encoding alpha-galactosidase A (alpha-Gal A), with consequent accumulation of its major glycosphingolipid substrate, globotriaosylceramide (GL-3)." | ( Agarwal, L; Benjamin, ER; Chang, HH; Desnick, RJ; Flanagan, JJ; Katz, E; Lockhart, DJ; Pine, C; Schilling, A; Valenzano, KJ; Wu, X; Wustman, B, 2009) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A, resulting in accumulation of the principal substrate, globotriaosylceramide (Gb(3)), in various physiological fluids and tissues in affected patients." | ( Auray-Blais, C; Barr, C; Clarke, JT; Drouin, R; Ntwari, A, 2009) |
| "Fabry disease is a X-linked lysosomal storage disorder." | ( Lidove, O; Papo, T, 2009) |
| "Fabry disease is a lysosomal storage disorder that results in an accumulation of globotriaosylceramide in vascular tissue secondary to a deficiency in alpha-galactosidase A." | ( Byun, J; Kollmeyer, J; Park, JL; Pennathur, S; Shayman, JA; Shu, L, 2009) |
| "Fabry disease is a lysosomal storage disease caused by a deficiency of alpha-galactosidase A, which results in aberrant glycosphingolipid metabolism and accumulation of globotriaosylceramide (Gb3)." | ( Choi, JO; Jung, SC; Lee, MH; Park, ES; Park, HY; Park, JW, 2009) |
| "A hallmark of Fabry disease is the concomitant development of left-ventricular hypertrophy and arterial intima-media thickening, the pathogenesis of which is thought to be related to the presence of a plasmatic circulating growth-promoting factor." | ( Barbey, F; Bekri, S; Brakch, N; Correvon, M; Dormond, O; Golshayan, D; Mazzolai, L; Steinmann, B, 2010) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency in alpha-galactosidase A (alpha-Gal A) activity and subsequent accumulation of the substrate globotriaosylceramide (GL-3), which contributes to disease pathology." | ( Benjamin, ER; Brignol, N; Desnick, RJ; Feng, J; Frascella, M; Khanna, R; Lockhart, DJ; Lun, Y; Pellegrino, L; Sitaraman, SA; Soska, R; Valenzano, KJ; Young, B, 2010) |
| "Fabry disease is a progressive and life-threatening glycolipid storage disorder affecting both males and females." | ( Hilz, MJ; Schaefer, RM; Tylki-Szymańska, A, 2009) |
| "Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme alpha-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues." | ( Rozenfeld, PA, 2009) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the GLA gene and deficiency in alpha-galactosidase A activity." | ( Hopkin, RJ; Patterson, L; Yin, H; Zarate, YA, 2010) |
| "Fabry disease is an X-chromosomally inherited lysosomal storage disorder leading to accumulation of glycosphingolipids, mainly globotriaosylceramide (ceramide-trihexoside, Gb3)." | ( Beck, M; Bruns, K; Grünhage, S; Krüger, R; Lackner, KJ; Reinke, J; Rossmann, H, 2010) |
| "Fabry disease is a progressive metabolic disorder with a clinical course characterized by different phases and a variety of disease manifestations." | ( Andrikos, E; Boletis, JN; Diamandopoulos, A; Galinas, A; Iatrou, C; Kalaitzidis, K; Katsinas, C; Pappas, M; Siamopoulos, KC; Xaidara, A, 2010) |
| "Fabry disease is an X-linked multisystem disorder due to alpha galactosidase A deficiency leading to glycosphingolipid accumulation with a predilection for the vascular endothelium and affecting the cardiovascular, renal, and neurologic systems." | ( Backenroth, R; Goren, M; Landau, EH; Raas-Rothschild, A, 2010) |
| "Fabry disease is an inherited lysosomal disorder caused by a deficiency of alpha-galactosidase A (α-gal A)." | ( Fan, X; Higuchi, K; Medin, JA; Takao, S; Takenaka, T; Tei, C; Yoshimitsu, M, 2011) |
| "Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body." | ( Ambrus, C; Bereczki, D; Bokrétás, G; Constantin, T; Csikós, M; Dajnoki, A; Erdos, M; Fekete, G; Fiedler, O; Garami, M; Kádár, K; Kárpáti, S; Katona, M; Kertész, A; Magyar, P; Mahdi, M; Maródi, L; Molnár, S; Müller, V; Nagy, V; Németh, K; Ponyi, A; Rákóczi, E; Rudas, G; Széchey, R; Tóth, B; Varga, E; Vastagh, I, 2010) |
| "Fabry disease is a lysosomal disorder caused by alpha-galactosidase A deficiency." | ( Bouwman, MG; Hollak, CE; Linthorst, GE; van den Bergh Weerman, MA; Wijburg, FA, 2010) |
| "Fabry disease is an X-linked genetic disorder caused by a deficiency of alpha-galactosidase A (GLA) activity." | ( Ishige, N; Kitagawa, T; Kodama, T; Ohashi, T; Sakuraba, H; Sugawara, K; Suzuki, K; Suzuki, T; Togawa, T; Tsukimura, T, 2010) |
| "Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism." | ( El Dib, RP; Pastores, GM, 2010) |
| "Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha-Galactosidase A, causing accumulation of globotriaosylceramide and elevated plasma globotriaosylsphingosine (lysoGb3)." | ( Aerts, JM; Bouwman, MG; Dekker, N; Groener, JE; Hollak, CE; Kuiper, S; Linthorst, GE; Poorthuis, BJ; Rombach, SM; Vd Bergh Weerman, MA; Wijburg, FA; Zwinderman, AH, 2010) |
| "Fabry disease is an X-linked lysosomal storage disease caused by a deficiency of alpha-galactosidase A, which leads to excessive accumulation of glycosphingolipids in most tissues in the body, with life-threatening clinical consequences in the kidney, heart, and cerebrovascular system." | ( Politei, JM, 2010) |
| "Fabry disease is an X-linked lysosomal storage disorder that leads to abnormal accumulation of glycosphingolipids due to a deficiency of alpha-galactosidase A (AGAL)." | ( Brogden, G; Das, A; Jia, J; Keiser, M; Maalouf, K; Naim, HY; Rizk, S, 2010) |
| "Fabry disease is an X-linked lysosomal glycosphingolipid storage disorder resulting from a deficient activity of α-galactosidase A that leads to proteinuric renal injury." | ( Carrasco, S; Egido, J; Mathieson, PW; Ortiz, A; Ruiz-Ortega, M; Saleem, MA; Sanchez-Niño, MD; Sanz, AB; Valdivielso, JM, 2011) |
| "Fabry disease is an X-linked inherited lysosomal storage disorder caused by an inborn deficiency of the enzyme α-galactosidase A." | ( Fukai, K; Hoshina, T; Takeda, T; Tanaka, A; Yamano, T, 2010) |
| "Fabry disease is a genetic disease caused by a deficiency of alpha-galactosidase A (GLA), which leads to systemic accumulation of glycolipids, predominantly globotriaosylceramide (Gb3)." | ( Fukushige, T; Kanekura, T; Kawashima, I; Kodama, T; Sakuraba, H; Suzuki, T; Togawa, T; Tsukimura, T, 2010) |
| "Fabry disease is characterized by accumulation of glycosphingolipids, such as globotriaosylceramide (Gb(3)), in many tissues and body fluids." | ( Auray-Blais, C; Bichet, DG; Casey, R; Clarke, JT; Gagnon, R; Hwu, WL; Keutzer, JM; Millington, DS; Ntwari, A; Oliveira, JP; Sirrs, S; Warnock, DG; West, ML; Young, SP; Zhang, XK, 2010) |
| "Fabry disease is treated by two-weekly infusions with α-galactosidase A, which is deficient in this X-linked globotriaosylceramide (Gb3) storage disorder." | ( Aerts, JM; Breunig, F; Dekker, N; Hollak, CE; Linthorst, GE; Poorthuis, BJ; Rombach, SM; van Breemen, MJ; Wanner, C; Zwinderman, AH, 2011) |
| "Fabry disease is caused by a deficiency of α-galactosidase A (α-Gal A), which results in the accumulation of globotriaosylceramide (GL3) and related glycosphingolipids in different organs." | ( Chiang, SC; Chien, YH; Hwu, WL; Keutzer, J; Lee, NC; Olivova, P; Zhang, XK, 2011) |
| "Fabry disease is a lysosomal storage disorder caused by an α-galactosidase A (α-Gal A) deficiency and resulting in the accumulation of glycosphingolipids, predominantly globotriaosylceramide (Gb3)." | ( Furukawa, K; Hamanaka, R; Ishii, S; Kulkarni, AB; Kunieda, T; Mannen, K; Matsuda, J; Noguchi, Y; Shiozuka, C; Taguchi, A; Uchio-Yamada, K; Yano, S; Yokoyama, S; Yoshioka, H, 2011) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency." | ( Ertl, G; Niemann, M; Wanner, C; Warnock, DG; Weidemann, F, 2011) |
| "Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency in the activity of the lysosomal hydrolase α-galactosidase A (α-gal)." | ( Ashe, KM; Bangari, D; Cheng, SH; Chuang, WL; Copeland, DP; Desnick, RJ; Marshall, J; McEachern, K; Pacheco, J; Scheule, RK; Shayman, JA, 2010) |
| "Fabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-GaL A) deficiency." | ( Cho, ST; Choi, KB; Chun, NW; Hyun, YY; Jeoung, BC; Kim, GH; Kim, HJ; Kim, JY; Kim, KW; Kim, SJ; Kim, SN; Kim, YA; Kwon, YJ; Lee, EJ; Lee, HA; Lee, JE; Lee, JY; Lee, YC; Lee, YK; Lim, HK; Noh, JW; Oh, KS; Pyo, HJ; Son, SH; Wee, KS; Yoo, HW; Yoon, HR; Yu, BH; Yu, SH, 2010) |
| "Fabry disease is very rare disease in patients with end-stage renal disease." | ( Cho, ST; Choi, KB; Chun, NW; Hyun, YY; Jeoung, BC; Kim, GH; Kim, HJ; Kim, JY; Kim, KW; Kim, SJ; Kim, SN; Kim, YA; Kwon, YJ; Lee, EJ; Lee, HA; Lee, JE; Lee, JY; Lee, YC; Lee, YK; Lim, HK; Noh, JW; Oh, KS; Pyo, HJ; Son, SH; Wee, KS; Yoo, HW; Yoon, HR; Yu, BH; Yu, SH, 2010) |
| "Fabry disease is a treatable X-linked lysosomal storage disorder caused by alterations in the structural gene (GLA) of α-galactosidase A (AGAL), manifesting with cardiovascular and/or kidney disease and decreased life span." | ( Breunig, F; Erwa, W; Fauler, G; Kotanko, P; Paschke, E; Plecko, B; Schlagenhauf, A; Sunder-Plassmann, G; Urban, W; Vujkovac, B; Winkler, H, 2011) |
| "Fabry disease is an X-linked lysosomal storage disorder (LSD) due to deficiency of the enzyme α-galactosidase A (GLA)." | ( Neumann, PM; Rozenfeld, P, 2011) |
| "Fabry disease is a lysosomal storage disorder due to deficient alpha-galactosidase A activity, characterised by glycosphingolipids deposition in tissues." | ( Beaussier, H; Benistan, K; Bensalah, M; Boutouyrie, P; Bozec, E; Briet, M; Collin, C; Froissart, M; Germain, DP; Laurent, S; Mousseaux, E; Tran, TC, 2012) |
| "Fabry disease is caused by mutations in the gene (GLA) that encodes α-galactosidase A (α-Gal A)." | ( Benjamin, ER; Boudes, P; Castelli, JP; Della Valle, MC; Flanagan, JJ; Katz, E; Lockhart, DJ; Mascioli, K; Schiffmann, R; Valenzano, KJ; Wu, X, 2011) |
| "Fabry disease is an X-linked lysosomal storage disorder (LSD) due to deficiency of the enzyme α-galactosidase A, resulting in intracellular deposition of globotriaosylceramide (Gb3)." | ( Ceci, R; De Francesco, PN; Fossati, CA; Mucci, JM; Rozenfeld, PA, 2011) |
| "Anderson-Fabry disease is a multisystemic disorder of lipid metabolism secondary to X-chromosome alterations and is frequently associated with cardiac manifestations such as left ventricular (LV) hypertrophy, gradually leading to an alteration in cardiac performance." | ( Avitabile, G; Cademartiri, F; Dellegrottaglie, S; Imbriaco, M; Iodice, D; Messalli, G; Pisani, A; Russo, R; Salvatore, M; Spinelli, L, 2012) |
| "Fabry disease is a rare disorder caused by a large variety of mutations in the gene encoding lysosomal alpha-galactosidase." | ( Andreotti, G; Cammisa, M; Citro, V; Correra, A; Cubellis, MV; De Crescenzo, A; Orlando, P, 2011) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A gene (GLA), and the disease is a relatively prevalent cause of left ventricular hypertrophy mimicking idiopathic hypertrophic cardiomyopathy." | ( Hasebe, N; Ishihara, T; Kawabe, J; Kikuchi, K; Kobayashi, M; Maruyama, H; Nakagawa, N; Ota, H; Sakamoto, N; Sasaki, Y; Seino, U; Takahashi, F; Takenaka, T; Takeuchi, T; Tanabe, Y; Yamauchi, A, 2011) |
| "Fabry disease is an X-linked disorder caused by a deficiency of α-galactosidase A." | ( Deegan, PB, 2012) |
| "Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A, resulting in the accumulation of globotriaosylceramide." | ( Politei, JM; Thurberg, BL, 2012) |
| "Fabry disease is an X-linked inborn error of glycosphingolipid catabolism due to deficient activity of α-galactosidase A that leads to accumulation of the enzyme substrates, mainly globotriaosylceramide (Gb3), in body fluids and lysosomes of many cell types." | ( Barschak, AG; Biancini, GB; Deon, M; Giugliani, R; Jardim, LB; Manfredini, V; Netto, CB; Ribas, GS; Rodrigues, DB; Vanzin, CS; Vargas, CR, 2012) |
| "Fabry disease is an X-linked lysosomal storage disorder (LSD) caused by mutations in the gene (GLA) that encodes the lysosomal hydrolase α-galactosidase A (α-Gal A), and is characterized by pathological accumulation of the substrate, globotriaosylceramide (GL-3)." | ( Benjamin, ER; Brignol, N; Dungan, L; Feng, J; Flanagan, JJ; Frascella, M; Guillen, D; Khanna, R; Lockhart, DJ; Lun, Y; Pellegrino, LJ; Ranes, BE; Schilling, A; Soska, R; Valenzano, KJ; Young, B, 2012) |
| "Fabry disease is an inherited lysosomal storage disorder caused by deficient α-galactosidase A activity." | ( Ishii, S, 2012) |
| "Fabry disease is a lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in glycosphingolipid accumulation in organs and tissues, including plasma and urine." | ( Auray-Blais, C; Boutin, M; Clarke, JT; Dupont, FO; Gagnon, R; Lavoie, P, 2012) |
| "Fabry disease is a lysosomal storage disease caused by deficient activity of the α-Galactosidase A (α-Gal A) enzyme, which leads to abnormal accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosome." | ( Macedo, MF; Pereira, CS; Quinta, R; Sa Miranda, MC, 2012) |
| "Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A) activity that results in progressive globotriaosylceramide (Gb(3)) deposition." | ( Au, BC; Fan, X; Medin, JA; Mizue, N; Pacienza, N; Takenaka, T; Wang, JC; Yoshimitsu, M, 2012) |
| "Fabry disease is a rare, X-linked, inherited lysosomal storage disorder that can be treated with the enzymes agalsidase alfa (Replagal) and agalsidase beta (Fabrazyme)." | ( Tsuboi, K; Yamamoto, H, 2012) |
| "Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, (predominately globotriaosylceramide; GL-3) in lysosomes, as well as other cellular compartments and the extracellular space." | ( Agrapart, V; Escoubet, B; Feng, W; Griol-Charhbili, V; Jaimes, E; Jaisser, F; Nguyen Dinh Cat, A; Schoeb, T; Warnock, DG, 2012) |
| "Fabry disease is a lysosomal storage disorder caused by loss of α-galactosidase function." | ( Broersen, K; Couceiro, J; De Baets, G; Gallardo, R; Reumers, J; Rousseau, F; Rudyak, S; Schymkowitz, J; Siekierska, A; Van Durme, J, 2012) |
| "Fabry disease is an X-linked hereditary lysosomal storage disorder attributed to a deficiency of α-galactosidase A leading to increased plasma levels of globotriaosylsphingosine (lysoGb3)." | ( Aerts, JM; de Groot, E; Groener, JE; Hollak, CE; Linthorst, GE; Poorthuis, BJ; Rombach, SM; van den Bogaard, B; van den Born, BJ, 2012) |
| "Fabry disease is a rare, X-linked, inherited lysosomal storage disorder that can be treated with the enzymes agalsidasealfa (Replagal) and agalsidase beta (Fabrazyme)." | ( Tsuboi, K; Yamamoto, H, 2012) |
| "Fabry disease is a rare, multiorgan disease." | ( Ballegaard, M; Borgwardt, L; Feldt-Rasmussen, U; Meldgaard Lund, A; Rasmussen, AK, 2013) |
| "Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency of the hydrolytic enzyme alpha galactosidase A, with consequent accumulation of globotrioasoyl ceramide in cells and tissues of the body, resulting in a multi-system pathology including end organ failure." | ( Imbriaco, M; Parenti, G; Pisani, A; Porto, C; Roux, GD; Sabbatini, M; Visciano, B, 2012) |
| "Fabry disease is a lysosomal storage disorder (LSD) caused by deficiency of α-galactosidase A (α-gal A), resulting in deposition of globotriaosylceramide (Gb3; also known as ceramide trihexoside) in the vascular endothelium of many organs." | ( Choi, EN; Jeon, YJ; Jung, SC; Lee, MH, 2012) |
| "Fabry disease is a complex, multisystemic and clinically heterogeneous disease, with elevated excretion of globotriaosylceramide (Gb(3)) and globotriaosylsphingosine (lyso-Gb(3)) accumulating in biological fluids caused by deficiency of the enzyme, lysosomal α-galactosidase A." | ( Auray-Blais, C; Boutin, M; Gagnon, R; Lavoie, P, 2012) |
| "Fabry disease is an X-linked hereditary lysosomal storage disorder with deficiency of the enzyme α-galactosidase A and lysosomal deposits of the glycosphingolipid globotriaosylceramid-3 (Gb-3)." | ( Sommer, C; Üçeyler, N, 2012) |
| "Fabry disease is an X-linked, multisystemic lysosomal storage disorder due to alpha-galactosidase A deficiency." | ( Auray-Blais, C; Boutin, M; Dupont, FO; Gagnon, R, 2013) |
| "Fabry disease is an X-linked lysosomal disorder resulting from mutations in the α-galactosidase A (GLA) gene." | ( Eto, Y; Fukuda, T; Ida, H; Inomata, T; Kitagawa, T; Kobayashi, M; Kusano, E; Nagaoka, T; Ohashi, T; Yanagisawa, T, 2012) |
| "Fabry disease is an X-chromosomal recessive deficiency of the lysosomal hydrolase alpha-galactosidase A (alpha-Gal)." | ( Asan, E; Bauersachs, J; Caprio, M; Dietrich, B; Ertl, G; Fiedler, J; Fleissner, F; Jazbutyte, V; Karpinski, N; Lorenzen, JM; Thum, T; Wanner, C; Weidemann, F, 2013) |
| "Fabry disease is a lysosomal storage disorder caused by the absence or reduction of α-galactosidase A enzyme activity." | ( Auray-Blais, C; Boutin, M; Lavoie, P, 2013) |
| "Fabry disease is a systemic disease caused by genetic deficiency of a lysosomal enzyme, alpha-galactosidase A (alpha-gal A), and is thought to be an important target for enzyme replacement therapy." | ( Fukuda, Y; Hashimoto, Y; Hirai, Y; Kase, R; Kobayashi, T; Migita, M; Sakuraba, H; Seino, Y; Shimada, T; Takahashi, H, 2002) |
| "Anderson Fabry disease is a life threatening, X-linked inborn metabolic defect of the lysosomal enzyme áalpha-galactosidase A." | ( Beck, M; Dietz, R; Kampmann, C; Osterziel, KJ; Perrot, A; Wiethoff, CM, 2002) |
| "Fabry disease is an inherited lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A." | ( Beck, M; Dietz, R; Kampmann, C; Osterziel, KJ; Perrot, A, 2002) |
| "Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha-galactosidase A (GLA) activity that results in the widespread accumulation of neutral glycosphingolipids." | ( Abe, A; Bodary, PF; Eitzman, DT; Khairallah, CG; Shaffer-Hartman, J; Shayman, JA; Shen, Y; Wild, SR, 2003) |
| "Fabry disease is an X-linked inborn error of glycosphingolipid metabolism due to the deficient activity of alpha-galactosidase A, a lysosomal enzyme." | ( Demuth, K; Germain, DP, 2002) |
| "Fabry disease is an X-linked recessive inborn metabolic disorder characterized by systemic and vascular accumulation of globotriaosylceramide (Gb(3)) caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A)." | ( Brady, RO; Gelderman, MP; Limaye, A; Murray, GJ; Park, J; Qasba, P; Quirk, JM, 2003) |
| "Fabry disease is a lysosomal storage disease arising from deficiency of the enzyme alpha-galactosidase A." | ( Andrews, L; Baker-Malcolm, J; Barngrover, D; Copertino, L; Edmunds, T; Geagan, L; Jin, X; Lee, K; McPherson, JM; Qiu, H; Seiger, K; Zhang, K, 2003) |
| "Fabry disease is an X-linked inherited inborn error of glycosphingolipid catabolism." | ( Arias, I; Hauser, AC; Kotanko, P; Kramar, R; Lorenz, M; Paschke, E; Püspök-Schwarz, M; Sunder-Plassmann, G; Voigtländer, T; Zodl, H, 2003) |
| "Fabry disease is an X-linked disorder caused by a deficiency of lysosomal alpha-galactosidase A resulting in accumulation of alpha-D-galatosyl conjugated glycosphingolipids." | ( Brady, RO; Dambrosia, JM; Floeter, MK; Gupta, S; Khurana, RK; Moore, DF; Schiffmann, R; Sharabi, Y, 2003) |
| "Fabry disease is an X-linked disorder associated with early onset stroke." | ( Altarescu, G; Barker, WC; Herscovitch, P; Moore, DF; Patronas, NJ; Schiffmann, R, 2003) |
| "Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency of alpha-galactosidase A." | ( Baehner, F; Beck, M; Kampmann, C; Miebach, E; Whybra, C; Wiethoff, CM, 2003) |
| "Fabry disease is a recessive, X-linked disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, leading to an accumulation of the glycosphingolipid globotriaosylceramide (GL-3) in most tissues of the body." | ( Cheng, SH; Desnick, RJ; Przybylska, M; Scheule, RK; Tousignant, JD; Wu, IH; Yew, NS; Zhao, H; Ziegler, RJ, 2004) |
| "Fabry disease is a hereditary metabolic disease, with an X-linked transmission, that is due to the deficit of alpha-galactosidase A, a lysosomal enzyme." | ( Germain, DP, 2003) |
| "Anderson-Fabry disease is an X-linked recessive lysosomal storage disease resulting from deficient alpha-galactosidase A activity." | ( Hauser, AC; Lorenz, M; Sunder-Plassmann, G, 2004) |
| "Fabry disease is a rare lysosomal storage disorder resulting from deficient activity of alpha-galactosidase A and subsequent pathological accumulation of glycosphingolipids throughout the body." | ( Fouilhoux, A; Guffon, N, 2004) |
| "Fabry disease is an X-linked disorder of glycosphingolipid metabolism resulting from a deficiency of the lysosomal enzyme alpha-galactosidase A." | ( Cooper, D; Mills, K; Morris, M; Morris, P; Vellodi, A; Winchester, B; Young, E, 2004) |
| "Fabry disease is an X-linked lysosomal storage disorder caused by the deficiency of alpha-galactosidase A that results in the accumulation of neutral sphingolipids." | ( Bembi, B; Cariati, R; Ciana, G; Dominissini, S; Guerci, V; Nevyjel, M; Pittis, MG, 2004) |
| "Fabry disease is an X-linked inherited disorder that is caused by excessive lysosomal globotriaosylceramide (CTH) storage due to a deficiency in alpha-galactosidase A (alpha-Gal A)." | ( Aerts, JM; Donker-Koopman, WE; Hollak, CE; Linthorst, GE; Strijland, A, 2004) |
| "Fabry disease is an inborn error of glycosphingolipid metabolism caused by the deficiency of lysosomal alpha-galactosidase A (alpha-Gal A)." | ( Fan, JQ; Ishii, S; Kulkarni, AB; Mannen, K; Yoshioka, H, 2004) |
| "Fabry disease is a lysosomal storage disorder caused by a deficiency of alpha-galactosidase A activity in lysosomes resulting in an accumulation of glycosphingolipid globotriosylceramide (Gb3)." | ( Roth, J; Yam, GH; Zuber, C, 2005) |
| "Fabry disease is an X-linked disorder of glycosphingolipid metabolism resulting from a deficiency of the lysosomal enzyme alpha-galactosidase A." | ( Lee, P; Mills, K; Morris, P; Vellodi, A; Waldek, S; Winchester, B; Young, E, 2005) |
| "Fabry disease is an underdiagnosed, treatable, X-linked, multisystem disorder." | ( Brady, RO; Dambrosia, JM; Gal, A; Garman, SC; Gupta, S; Moore, DF; Murray, GJ; Quirk, JM; Ries, M; Robinson, C; Rosing, DR; Sachdev, V; Schaefer, E; Schiffmann, R, 2005) |