| Excerpt | Reference |
|---|
| "Acid maltase deficiency is described in non-identical adult twins." | ( de Barsy, T; den Tandt, WR; Martin, JJ, 1976) |
| "Glycogenosis type II is an inherited lysosomal storage disease with acid alpha-glucosidase deficiency as the primary defect." | ( Kroos, M; Oude Elferink, RP; Reuser, AJ; Tager, JM, 1985) |
| "Infantile Pompe disease is a fatal genetic muscle disorder caused by a deficiency of acid alpha-glucosidase, a glycogen-degrading lysosomal enzyme." | ( Brady, RO; Chen, YT; Van Hove, JL; Wu, JY; Yang, HW, 1996) |
| "Pompe disease is a fatal genetic muscle disorder caused by a deficiency of acid alpha-glucosidase (GAA), a glycogen degrading lysosomal enzyme." | ( Chen, YT; Ichihara, N; Kikuchi, T; Mizutani, M; Pennybacker, M; Van Hove, JL; Yang, HW, 1998) |
| "Pompe disease is a lethal cardioskeletal myopathy in infants and results from genetic deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA)." | ( Bayes, HS; Byrne, BJ; Fraites, TJ; Hirschhorn, R; Huie, ML; Kessler, PD; Pauly, DF; Plotz, PH; Raben, N; Toma, C, 2001) |
| "Pompe's disease is an autosomal recessive and often fatal condition, caused by mutations in the acid alpha-glucosidase gene, leading to lysosomal glycogen storage in heart and skeletal muscle." | ( Duncker, DJ; Kamphoven, JH; Reuser, AJ; Stubenitsky, R; Van Der Ploeg, AT; Verdouw, PD, 2001) |
| "Pompe disease is a lysosomal storage disease caused by the absence of acid alpha-1,4 glucosidase (GAA)." | ( Byrne, BJ; Cloutier, DA; Fraites, TJ; Kessler, PD; Pauly, DF; Plotz, PH; Powers, SK; Raben, N; Schleissing, MR; Shanely, RA; Walter, GA; Zolotukhin, I, 2002) |
| "Glycogen storage disease II is characterized by a deficiency of the lysosomal enzyme acid alpha-glucosidase." | ( Blanco, M; Casentini, C; Chamoles, NA; Gaggioli, D; Niizawa, G, 2004) |
| "Pompe disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase, responsible for the degradation of lysosomal glycogen." | ( Johnson, J; Lynch, CM; Thurberg, BL; Vaccaro, C, 2005) |
| "Pompe disease is an autosomal recessive muscle-wasting disorder caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase." | ( Bosbach, T; Görlinger, K; Klinge, L; Neudorf, U; Richards, S; Schaper, J; Straub, V; Voit, T; Wallot, M, 2005) |
| "Glycogen storage disease II is an inherited progressive muscular disease in which the lack of functional acid 1-4 alpha-glucosidase results in the accumulation of lysosomal glycogen." | ( Drost, MR; Hesselink, RP; Oomens, CW; van der Vusse, GJ, 2005) |
| "Pompe disease is an autosomal recessive disorder of glycogen metabolism resulting from a deficiency of acid alpha-glucosidase." | ( Hopwood, JJ; Meikle, PJ; Umapathysivam, K, 2005) |
| "Infantile Pompe disease is caused by deficiency of lysosomal acid alpha-glucosidase." | ( Ansong, AK; Carboni, MP; Chen, YT; Cook, AL; Kanter, RJ; Kishnani, PS; Kravitz, RM; Li, JS; Rice, H, 2006) |
| "Infantile Pompe's disease is a glycogen storage disorder." | ( Hagel, KJ; Hahn, A; Katz, N; Neubauer, BA; Schmidt, D, 2006) |
| "Pompe disease is caused by a lack of functional lysosomal acid alpha-glucosidase (GAA) and can ultimately lead to fatal hypertrophic cardiomyopathy and respiratory insufficiency." | ( Byrne, BJ; Cloutier, DA; Cresawn, KO; Deruisseau, LR; Fuller, DD; Germain, S; Lewis, MA; Mah, C; Pacak, CA, 2007) |
| "Pompe disease (glycogenosis type II) is a rare lysosomal disorder caused by a mutational deficiency of acid alpha-glucosidase (GAA)." | ( Griffiths, D; Johnson, J; Ryan, S; Shihabuddin, LS; Taksir, TV; Thurberg, BL, 2007) |
| "Although Pompe disease is often included in the differential diagnosis of LV hypertrophy the true frequency of cardiac involvement in adults with Pompe disease is not known." | ( Geleijnse, ML; Nemes, A; Soliman, OI; ten Cate, FJ; Van Dalen, BM; van der Beek, NA; van der Ploeg, AT; van Doorn, PA; Vletter, WB, 2008) |
| "Pompe disease (glycogen storage disease II) is caused by mutations in the acid alpha-glucosidase gene." | ( Cheng, SH; Dodge, JC; Fidler, J; Passini, MA; Raben, N; Shihabuddin, LS; Sidman, RL; Taksir, T; Thurberg, BL; Zhao, M, 2008) |
| "Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid alpha-glucosidase (GAA) enzyme." | ( Kiuru-Enari, SM; Korpela, MP; Lamminen, AE; Löfberg, MI; Paetau, A; Timonen, MH, 2009) |
| "Pompe disease is a lysosomal storage disorder (LSD) caused by mutations in the gene that encodes acid alpha-glucosidase (GAA)." | ( Andria, G; Benjamin, E; Cubellis, MV; Do, HV; Donaudy, F; Flanagan, JJ; Fontana, F; Lockhart, DJ; Mascioli, K; Parenti, G; Porto, C; Rossi, B; Tang, K; Tuzzi, MR; Valenzano, KJ; Wu, X, 2009) |
| "Pompe disease is a muscular dystrophy that results in respiratory insufficiency." | ( Byrne, BJ; Campbell-Thompson, M; Cloutier, DA; Conlon, TJ; Cresawn, KO; DeRuisseau, LR; Falk, DJ; Fraites, TJ; Fuller, DD; Germain, SA; Kelley, JS; Lewis, MA; Mah, CS, 2010) |
| "Pompe disease is caused by the deficiency of acid α-glucosidase (GAA), which degrades glycogen into glucose." | ( Fidziańska, A; Tylki-Szymańska, A; Ługowska, A, 2011) |
| "Pompe disease is an autosomal recessive metabolic myopathy caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation." | ( Byrne, BJ; Cleaver, BD; Clement, N; Cloutier, DA; Collins, SW; Conlon, TJ; Elder, ME; Elmallah, MK; Falk, DJ; Fuller, DD; Herzog, RW; Islam, S; Lawson, LA; Mah, CS; Martin, A; Nayak, S; Pacak, CA; Porvasnik, SL; Smith, BK, 2011) |
| "Pompe disease, or glycogen storage disease type 2, is a rare inheritable metabolic disease caused by a deficiency of the lysosomal enzyme acid α-glucosidase." | ( de Gijt, JP; Oosterhuis, JW; van Capelle, CI; van der Ploeg, AT; van der Wal, KG, 2011) |
| "Pompe's disease is an autosomal recessive disease caused by deficiency of acid-alpha-glucosidase." | ( Almássy, Z; Bereznai, B; György, I; Herczegfalvi, A; Illés, Z; Molnár, MJ; Pál, E; Szakszon, K; Trauninger, A; Várdi Visy, K, 2011) |
| "Pompe disease is caused by autosomal recessive mutations in the acid alpha-glucosidase (GAA) gene, which encodes GAA." | ( Chen, CH; Chen, HF; Chen, PH; Chiang, SC; Chien, CL; Chien, YH; Chuang, CY; Ho, HN; Huang, HP; Hwu, WL; Kuo, HC; Li, LT; Stone, L, 2011) |
| "Pompe disease is a form of muscular dystrophy due to lysosomal storage of glycogen caused by deficiency of acid α-glucosidase (GAA)." | ( Byrne, BJ; Falk, DJ; Fuller, DD; Qiu, K; Reier, PJ, 2012) |
| "Pompe disease is an autosomal recessive neuromuscular disorder marked by progressive muscle weakness due to lysosomal buildup of glycogen." | ( Beckemeyer, AA; Kishnani, PS; Mendelsohn, NJ, 2012) |
| "Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that is caused by acid α-glucosidase (GAA) deficiency and is due to pathogenic sequence variations in the corresponding GAA gene." | ( Hoogeveen-Westerveld, M; Kroos, M; Reuser, AJ; van der Ploeg, A, 2012) |
| "Pompe disease is a very rare disorder of glycogen metabolism." | ( Heesen, M; Lehberger, J; Roth, R; Weingärtner, K, 2012) |
| "Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme, acid alpha-glucosidase (GAA)." | ( Higuchi, I; Kawano, Y; Maegaki, Y; Maruyama, S; Nanba, E; Narita, A; Ohno, K; Toyoshima, M; Yonee, C; Young, SP, 2012) |
| "Pompe disease is caused by a deficiency in acid α-glucosidase (GAA) and results in progressive, debilitating, and often life-threatening symptoms." | ( Chiang, SC; Chien, YH; Hsu, LW; Hwu, WL; Lee, NC, 2012) |
| "Pompe disease is an inherited lysosomal storage disease that results from a deficiency in the enzyme acid α-glucosidase (GAA), and is characterized by progressive accumulation of lysosomal glycogen primarily in heart and skeletal muscles." | ( Feng, J; Flanagan, JJ; Frascella, M; Guillen, D; Khanna, R; Lockhart, DJ; Lun, Y; Pellegrino, LJ; Soska, R; Valenzano, KJ, 2012) |
| "Pompe disease is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA)." | ( Ferrer, M; Goldin, E; Gustafson, AM; Hu, X; Lea, WA; Liu, K; Marugan, JJ; Matalonga, L; Motabar, O; Ribes, A; Sidransky, E; Simeonov, A; Southall, N; Tamargo, RJ; Velayati, A; Westbroek, W; Xiao, J; Zheng, W, 2012) |
| "Pompe disease is caused by absence of the lysosomal enzyme acid alpha-glucosidase." | ( Hansen, RS; Lacour, A; Laforet, P; Lukacs, Z; Madsen, KL; Preisler, N; Vissing, J; Ørngreen, MC, 2012) |
| "Most adults with Pompe disease are compound heterozygotes in which one acid α-glucosidase (GAA) allele harbors the c." | ( de Vries, JM; Hoogeveen-Westerveld, M; Kroos, MA; Reuser, AJ; van der Ploeg, AT; van Doorn, PA; Wens, SC; Wijgerde, MG, 2012) |
| "Pompe disease is a disorder originating from an acid alpha-glycosidase (AAG) enzyme deficiency." | ( Bobillo Lobato, J; Durán Parejo, P; Jiménez Jiménez, LM; Tejero Díez, P, 2013) |
| "Infantile Pompe disease is a rare, autosomal recessive disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen." | ( Austin, S; DeArmey, S; Kansagra, S; Kishnani, PS; Kravitz, RM, 2013) |
| "Pompe disease is an autosomal recessive disorder caused by mutations in the acid-α glucosidase (GAA) gene." | ( Byrne, BJ; Elmallah, MK; Falk, DJ; Federico, RA; Fuller, DD; Nayak, S; Poirier, A; Sandhu, MS, 2014) |
| "Pompe disease is a storage disorder characterized by deficient or absent activity of the enzyme acid alpha-glucosidase." | ( Ivkosic, IE; Kovacevic, T; Kuzmanic-Samija, R; Markic, J; Mestrovic, J; Metlicic, V; Polic, B; Stricevic, L, 2014) |
| "Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in the gene encoding the acid α-glucosidase (GAA), located on chromosome 17q25." | ( Manganelli, F; Ruggiero, L, 2013) |
| "Glycogenosis II (GSD II) is an autosomal recessive lysosomal storage disorder resulting from acid alpha-glucosidase deficiency, subsequent accumulation of glycogen in tissues, impairment of autophagic processes and progressive cardiac, motor and respiratory failure." | ( Cotelli, MS; Filosto, M; Padovani, A; Rinaldi, F; Rota, S; Scarpelli, M; Todeschini, A; Vielmi, V, 2013) |
| "Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in acid α-glucosidase (GAA) activity due to mutations in the GAA gene." | ( Brignol, N; Dhulipala, R; Do, HV; Feng, J; Frascella, M; Garcia, A; Khanna, R; Lockhart, DJ; Lun, Y; Pellegrino, LJ; Powe, AC; Soska, R; Toth, MJ; Valenzano, KJ; Wustman, BA; Xu, S, 2014) |
| "Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA)." | ( Angelini, C; Bembi, B; Carlucci, A; Comelli, M; Danesino, C; Dardis, A; De Filippi, P; Di Muzio, A; Filosto, M; Giannini, F; Marrosu, G; Moggio, M; Mongini, T; Morandi, L; Ravaglia, S; Rigoldi, M; Saeidi, K; Scotti, C; Servidei, S; Siciliano, G; Tonin, P; Toscano, A, 2014) |
| "Pompe disease is due to a deficiency in acid-α-glucosidase (GAA) and results in debilitating skeletal muscle wasting, characterized by the accumulation of glycogen and autophagic vesicles." | ( Backer, JM; Johnson, DE; Pessin, JE; Shemesh, A; Wang, Y; Yang, GS; Yang, Y; Zong, H, 2014) |
| "Pompe disease is an autosomal recessive disorder linked to GAA gene that leads to a multi-system intralysosomal accumulation of glycogen." | ( D'Almeida, V; de Almeida, SS; de Faria, DO; Kyosen, SO; Martins, AM; Motta, FL; Munoz Rojas, MV; Pesquero, JB; Pessoa, JG; Rodrigues E Silva, M; Teixeira, VD; Turaça, LT, 2015) |
| "Late-onset Pompe disease is characterized by progressive skeletal myopathy followed by respiratory muscle weakness, typically leading to loss of ambulation and respiratory failure." | ( Barohn, RJ; Baudin, PY; Bjartmar, C; Boentert, M; Carlier, PG; Carlier, RY; Dimachkie, MM; Goker-Alpan, O; Guglieri, M; Kissel, JT; Mozaffar, T; Pena, LD; Pestronk, A; Schoser, B; Shafi, R; Simmons, Z; Straub, V; Thurberg, BL; van der Ploeg, A; Wenninger, S; Wens, S; Young, P, 2016) |
| "Pompe disease is caused by a deficiency in the lysosomal enzyme α-glucosidase, and this leads to glycogen accumulation in the autolysosomes of patient cells." | ( Brooks, DA; Fuller, M; Hopwood, JJ; Meikle, PJ; Turner, CT, 2016) |
| "Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal α-1,4-glucosidase leading to accumulation of glycogen in target tissues with progressive organ failure." | ( Boentert, M; Dräger, B; Florian, A; Yilmaz, A; Young, P, 2016) |
| "Pompe disease is characterized by accumulation of both lysosomal and cytoplasmic glycogen primarily in skeletal and cardiac muscles." | ( Armstrong, D; Austin, S; Borneman, S; Kishnani, PS; Sun, B; Sun, T; Yang, C; Yi, H, 2017) |
| "Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen." | ( Bellvé, K; Byrne, BJ; ElMallah, MK; Fuller, DD; Keeler, AM; Liu, D; Salemi, J; Xiong, L; ZhuGe, R; Zieger, M, 2017) |
| "Pompe disease is a lysosomal storage disorder caused by acid-α-glucosidase (GAA) deficiency, leading to glycogen storage." | ( Babarit, C; Caillaud, C; Ciron, C; Colle, MA; Costiou, P; Deniaud, J; Dequéant, B; Dubreil, L; Fusellier, M; Hordeaux, J; Huchet, C; Jamme, F; Lagalice, L; Ledevin, M; Mallem, Y; Pailloux, J; Pascal, Q; Robveille, C, 2017) |
| "Pompe disease is an extra-rare metabolic storage disease with deficiency of acid-alpha-glucosidase (GAA) enzyme activity, which leads to the pathologic accumulation of glycogen in target tissues (skeletal muscles, heart, brain)." | ( Bogdanski, P; Musialik, K; Skrypnik, D; Skrypnik, K; Szulinska, M; Walczak-Galezewska, M, 2017) |
| "Pompe disease is caused by an inborn defect of lysosomal acid α-glucosidase (GAA) and is characterized by lysosomal glycogen accumulation primarily in the skeletal muscle and heart." | ( Awaya, T; Era, T; Heike, T; Jonouchi, T; Kimura, R; Kimura, S; Sakurai, H; Yoshida, T, 2017) |
| "Pompe disease is a rare disorder due to deficiency of the acid α-glucosidase (GAA) treated by enzyme replacement therapy." | ( Basile, I; Caillaud, C; Charbonné, HV; Da Silva, A; Daurat, M; El Cheikh, K; Garcia, M; Gary-Bobo, M; Godefroy, A; Harmois, A; Maynadier, M; Morère, A; Pau, B; Perez, M, 2018) |
| "Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA)." | ( Boomaars, B; Cardone, M; de Jong, B; In 't Groen, SLM; Parenti, G; Pijnappel, WWMP; Schaaf, GJ; Tarallo, A; van der Ploeg, AT; van Gestel, TJM, 2018) |
| "Pompe disease is a rare inherited disorder of lysosomal glycogen metabolism due to acid α-glucosidase (GAA) deficiency." | ( Do, HV; Feng, J; Frascella, M; Garcia, A; Gotschall, R; Khanna, R; Lun, Y; Martina, JA; Nair, A; Ponery, AS; Puertollano, R; Raben, N; Ralston, E; Schilling, A; Soska, R; Tuske, S; Valenzano, KJ; Valle, MCD; Xu, S, 2019) |
| "Pompe disease is a neuromuscular disorder caused by disease-associated variants in the gene encoding for the lysosomal enzyme acid α-glucosidase (GAA), which converts lysosomal glycogen to glucose." | ( Abad, C; Boyer, O; Cagin, U; Charles, S; Colella, P; Collaud, F; Daniele, N; Gjata, B; Gomez, MJ; Guerchet, N; Krijnse-Locker, J; Mingozzi, F; Moya-Nilges, M; Puzzo, F; Ronzitti, G; Sellier, P; Sola, MS; Van Wittenberghe, L, 2020) |
| "Pompe disease is a lysosomal and neuromuscular disorder caused by deficiency of acid alpha-glucosidase (GAA), and causes classic infantile, childhood onset, or adulthood onset phenotypes." | ( Bergsma, AJ; Broeders, M; de Faria, DOS; Hoogeveen-Westerveld, M; Niño, MY; Pijnappel, WWMP; van den Hout, HJM; van der Beek, NAME; van der Ploeg, AT; Verheijen, FW; Wijgerde, M, 2021) |
| "Pompe disease is a lysosomal storage disease caused by mutations within the GAA gene, which encodes acid α-glucosidase (GAA)-an enzyme necessary for lysosomal glycogen degradation." | ( Bailey, AM; Dhindsa, JS; ElMallah, MK; McCall, AL; Pucci, LA; Strickland, LM, 2021) |
| "Pompe disease is a metabolic myopathy due to acid alpha-glucosidase deficiency." | ( Coletta, M; Damiano, C; De Matteis, MA; Fecarotta, S; Iacono, R; Imbimbo, P; Indrieri, A; Medina, DL; Minopoli, N; Monti, DM; Moracci, M; Nusco, E; Parenti, G; Polishchuk, E; Polishchuk, R; Porto, C; Strollo, S; Tarallo, A; Zappa, F, 2021) |
| "Pompe disease is a rare disorder characterised by progressive loss of muscle and respiratory function due to acid α-glucosidase deficiency." | ( Bratkovic, D; Byrne, BJ; Castelli, J; Díaz-Manera, J; Goldman, M; Jiang, H; Kishnani, PS; Kuchipudi, S; Laforêt, P; Mozaffar, T; Roberts, M; Schoser, B; Sitaraman, S; Toscano, A; van der Ploeg, AT, 2021) |
| "Pompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of acid α-glucosidase (GAA), resulting in skeletal muscle weakness and cardiomyopathy that progresses despite currently available therapy in some patients." | ( Brooks, E; Chang, A; Gheorghiu, D; Han, SO; Koeberl, D; Li, S; Mapatano, SH, 2022) |
| "Pompe disease is an autosomal recessive disorder caused by a deficiency of acid-α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen." | ( Bao-Dai, J; Biswas, DD; El Haddad, L; ElMallah, MK; Huston, ML; Kishnani, PS; Lai, E; Roger, AL; Scarrow, E; Sethi, R; Strickland, LM, 2022) |
| "Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha-glucosidase (GAA), resulting in lysosomal glycogen accumulation." | ( Brusse, E; Canibano-Fraile, R; Demmers, JAA; Dos Santos, CA; Harlaar, L; Hoogeveen-Westerveld, M; Lijnzaad, P; Pijnappel, WWMP; Schaaf, GJ; Snijders, T; van der Beek, NAME; van der Ploeg, AT; van Doorn, PA; Verdijk, RM, 2023) |
| "Pompe disease is an autosomal recessive glycogen storage disease caused by mutations in the gene that encodes acid alpha-glucosidase (GAA)-an enzyme responsible for hydrolyzing lysosomal glycogen." | ( Biswas, DD; El Haddad, L; ElMallah, MK; Lai, E; Murthy, PKL; Roger, AL; Soufny, R; Tata, PR, 2023) |
| "Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in multiple tissues." | ( Ali, EZ; Chan, MY; Chew, HB; Jalil, JA; Khalid, MKNM; Leong, HY; Ngu, LH; Sivabalakrishnan, JB; Wahab, SAA; Yakob, Y, 2023) |
| "Pompe disease is a rare, inherited, devastating condition that causes progressive weakness, cardiomyopathy and neuromotor disease due to the accumulation of glycogen in striated and smooth muscle, as well as neurons." | ( Byrne, BJ; Corti, M; Fuller, DD; Gentry, MS; Leon-Astudillo, C; Sun, RC; Trivedi, PD, 2023) |
| Excerpt | Reference |
|---|
| "Attempts at treatment of glycogenosis type II and other lysosomal storage disorders by enzyme replacement have been reported." | ( Bolhuis, PA; Busch, HM; Galjaard, H; Loonen, MC; Reuser, AJ; Van der Ploeg, AT, 1988) |
| "A patient with acid maltase deficiency was treated with a high protein diet for 7 months." | ( Macleod, AF; Scobie, IN; Sonksen, PH; Spencer, GT; Trend, PS; Umpleby, AM; Wiles, CM, 1987) |
| "For example, for the therapy of Pompe disease, a severe metabolic myopathy and cardiomyopathy caused by deficiency of acid alpha-glucosidase (GAA), skeletal muscle seems an obvious choice as a depot organ for local therapy and for the delivery of the recombinant enzyme into the systemic circulation." | ( Byrne, B; Hopwood, JJ; Lee, A; Lu, N; Meikle, PJ; Nagaraju, K; Plotz, PH; Raben, N; Rivera, Y; Umapathysivam, K; Yan, B, 2001) |
| "A knockout mouse model for Pompe disease, induced by the disruption of exon 6 within the acid alpha-glucosidase gene, mimics the human disease and has been used to evaluate the efficacy of treatment modalities for clearing glycogen." | ( Johnson, J; Lynch, CM; Thurberg, BL; Vaccaro, C, 2005) |
| "In fibroblast cells, from adult-onset GSD II patients, D-glucose increased the residual level of alpha-glucosidase activity, suggesting that a structural analogue of d-glucose may be used for enzyme enhancement therapy." | ( Brooks, DA; Hopwood, JJ; Kakavanos, R; Lang, D; Meikle, PJ, 2006) |
| "Enzyme replacement therapy for Pompe disease was recently approved in Europe, the U." | ( Andrews, L; Canfield, W; Do, H; Gotschall, R; Jin, X; Lee, KL; Mattaliano, RJ; McPherson, JM; McVie-Wylie, AJ; O'Callaghan, M; Qiu, H; Raben, N; Rogers, C; Thurberg, BL, 2008) |
| "Lysosomal storage disorders such as Pompe disease can be more effectively treated, if immune tolerance to enzyme or gene replacement therapy can be achieved." | ( Bird, A; Kemper, A; Koeberl, DD; Li, S; Sun, B; Thurberg, BL; Yi, H, 2010) |
| "Mice with Pompe disease were treated with weekly rhGAA injections (20 mg/kg) and a selective β2-agonist, either albuterol (30 mg/l in drinking water) or low-dose clenbuterol (6 mg/l in drinking water)." | ( Bali, D; Dai, J; Kishnani, PS; Koeberl, DD; Li, S; Thurberg, BL, 2012) |
| "Infantile Pompe disease resulting from a deficiency of lysosomal acid α-glucosidase (GAA) requires enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA)." | ( Bali, D; Case, LE; Champion, M; Dimmock, D; Hershkovitz, E; Jones, SA; Kishnani, PS; Mendelsohn, NJ; Messinger, YH; Olson, R; Rhead, W; Rosenberg, AS; Wells, C; White, A; Young, SP, 2012) |
| "We present a 7-month-old male with Pompe's disease with respiratory failure requiring extracorporeal membrane oxygenation that received enzyme replacement therapy." | ( Pipkin, W; Riojas, C, 2014) |
| "In a new transgenic mouse model of Pompe disease that expresses human P545L on a Gaa knockout background (Tg/KO) and is characterized by reduced GAA activity and elevated glycogen levels in disease-relevant tissues, daily oral administration of AT2220 for 4 weeks resulted in significant and dose-dependent increases in mature lysosomal GAA isoforms and GAA activity in heart and skeletal muscles." | ( Brignol, N; Dhulipala, R; Do, HV; Feng, J; Frascella, M; Garcia, A; Khanna, R; Lockhart, DJ; Lun, Y; Pellegrino, LJ; Powe, AC; Soska, R; Toth, MJ; Valenzano, KJ; Wustman, BA; Xu, S, 2014) |
| "Efficacy of gene therapy for Pompe disease depend upon the induction of immune tolerance to the therapeutic enzyme." | ( Brooks, ED; Koeberl, DD; Sun, B, 2015) |
| "Mice with Pompe disease were treated with propranolol (a β-blocker) or clenbuterol in combination with ERT, or with ERT alone." | ( Han, SO; Kishnani, PS; Koeberl, DD; Li, S; Pope, R; Steet, R, 2016) |
| "The standard of care for Pompe disease (glycogen storage disease type II), a deficiency of lysosomal acid alpha glucosidase, is enzyme replacement therapy (ERT)." | ( Lim, JA; Puertollano, R; Raben, N; Sun, B, 2018) |
| "Gene therapy for Pompe disease with adeno-associated virus (AAV) vectors has advanced into early phase clinical trials; however, the paucity of cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle, where it is needed to take up acid α-glucosidase (GAA), has impeded the efficacy of Pompe disease gene therapy." | ( Everitt, JI; Han, SO; Koeberl, DD; Li, S, 2019) |
| "The natural course of early-onset Pompe disease (EOPD) is severe and rapidly fatal if left untreated." | ( Andreoli, L; Bellotti, AS; Bresolin, N; Comi, GP; Corti, S; Ronchi, D, 2020) |
| "The only FDA approved treatment for Pompe disease-an enzyme replacement therapy (ERT)-increases survival of patients, but has unmasked previously unrecognized clinical manifestations of Pompe disease." | ( Bailey, AM; Dhindsa, JS; ElMallah, MK; McCall, AL; Pucci, LA; Strickland, LM, 2021) |
| "Gene therapy in Pompe disease constitutes an attractive approach due to the multisystem aspects of the disease and need to address the central nervous system manifestations." | ( Byrne, BJ; Corti, M; Fuller, DD; Gentry, MS; Leon-Astudillo, C; Sun, RC; Trivedi, PD, 2023) |
| "The life expectancy of Pompe disease patients has increased due to improved neonatal screening and enzyme replacement therapy." | ( Chen, MH; Chien, YH; Tsai, MM; Tung, YC, 2023) |
| "Five out of nine patients (55%) with Pompe disease on enzyme replacement therapy had precocious puberty." | ( Chen, MH; Chien, YH; Tsai, MM; Tung, YC, 2023) |