-
1
-
-
0000995321
-
Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency
-
Scriver C, Beaudet A, Sly W, Valle D, editors. New York: McGraw-Hill
-
Hirschhorn R, Reuser A. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 3389-420.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3389-3420
-
-
Hirschhorn, R.1
Reuser, A.2
-
3
-
-
33646830132
-
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
-
Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006;148:671-6.
-
(2006)
J Pediatr
, vol.148
, pp. 671-676
-
-
Kishnani, P.S.1
Hwu, W.L.2
Mandel, H.3
Nicolino, M.4
Yong, F.5
Corzo, D.6
-
4
-
-
0032848015
-
Frequency of glycogen storage disease type II in The Netherlands: Implications for diagnosis and genetic counselling
-
DOI 10.1038/sj.ejhg.5200367
-
Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. 1999;7:713-6. (Pubitemid 29424063)
-
(1999)
European Journal of Human Genetics
, vol.7
, Issue.6
, pp. 713-716
-
-
Ausems, M.G.E.M.1
Verbiest, J.2
Hermans, M.M.P.3
Kroos, M.A.4
Beemer, F.A.5
Wokke, J.H.J.6
Sandkuijl, L.A.7
Reuser, A.J.J.8
Van Der, P.A.T.9
-
5
-
-
0031695078
-
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease [4]
-
DOI 10.1002/(SICI)1096-8628(19980827)79:1<69::AID-
-
Martiniuk F, Chen A, Mack A, et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet. 1998;79:69-72. (Pubitemid 28402423)
-
(1998)
American Journal of Medical Genetics
, vol.79
, Issue.1
, pp. 69-72
-
-
Martiniuk, F.1
Chen, A.2
Mack, A.3
Arvanitopoulos, E.4
Chen, Y.5
Rom, W.N.6
Codd, W.J.7
Hanna, B.8
Alcabes, P.9
Raben, N.10
Plotz, P.11
-
6
-
-
84880626481
-
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry
-
Scott CR, Elliott S, Buroker N, et al. Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. J Pediatr. 2013; 163(2):498-503.
-
(2013)
J Pediatr
, vol.163
, Issue.2
, pp. 498-503
-
-
Scott, C.R.1
Elliott, S.2
Buroker, N.3
-
7
-
-
63449127241
-
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
-
Nicolino M, Byrne B, Wraith JE, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009;11:210-9.
-
(2009)
Genet Med
, vol.11
, pp. 210-219
-
-
Nicolino, M.1
Byrne, B.2
Wraith, J.E.3
-
8
-
-
33846033132
-
Recombinant human acid alpha-glucosidase: Major clinical benefits in infantile-onset Pompe disease
-
DOI 10.1212/01.wnl.0000251268.41188.04, PII 0000611420070109000007
-
Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99-109. (Pubitemid 46071892)
-
(2007)
Neurology
, vol.68
, Issue.2
, pp. 99-109
-
-
Kishnani, P.S.1
Corzo, D.2
Nicolino, M.3
Byrne, B.4
Mandel, H.5
Hwu, W.L.6
Leslie, N.7
Levine, J.8
Spencer, C.9
McDonald, M.10
Li, J.11
Dumontier, J.12
Halberthal, M.13
Chien, Y.H.14
Hopkin, R.15
Vijayaraghavan, S.16
Gruskin, D.17
Bartholomew, D.18
Van Der, P.A.19
Clancy, J.P.20
Parini, R.21
Morin, G.22
Beck, M.23
De La, G.G.S.24
Jokic, M.25
Thurberg, B.26
Richards, S.27
Bali, D.28
Davison, M.29
Worden, M.A.30
Chen, Y.T.31
Wraith, J.E.32
more..
-
9
-
-
0035746540
-
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
-
Amalfitano A, Bengur AR, Morse RP, et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med. 2001;3:132-8.
-
(2001)
Genet Med
, vol.3
, pp. 132-138
-
-
Amalfitano, A.1
Bengur, A.R.2
Morse, R.P.3
-
10
-
-
77950963839
-
A randomized study of alglucosidase alfa in late-onset Pompe's disease
-
van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010;362:1396-406.
-
(2010)
N Engl J Med
, vol.362
, pp. 1396-1406
-
-
Van Der Ploeg, A.T.1
Clemens, P.R.2
Corzo, D.3
-
11
-
-
33746151202
-
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease
-
DOI 10.1016/j.jpeds.2006.02.035, PII S0022347606001405
-
Kishnani PS, Nicolino M, Voit T, et al. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006;149:89-97. (Pubitemid 44081924)
-
(2006)
Journal of Pediatrics
, vol.149
, Issue.1
, pp. 89-97
-
-
Kishnani, P.S.1
Nicolino, M.2
Voit, T.3
Rogers, R.C.4
Tsai, A.C.-H.5
Waterson, J.6
Herman, G.E.7
Amalfitano, A.8
Thurberg, B.L.9
Richards, S.10
Davison, M.11
Corzo, D.12
Chen, Y.T.13
-
12
-
-
71649099089
-
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
-
Kishnani PS, Goldenberg PC, DeArmey SL, et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010;99:26-33.
-
(2010)
Mol Genet Metab
, vol.99
, pp. 26-33
-
-
Kishnani, P.S.1
Goldenberg, P.C.2
DeArmey, S.L.3
-
13
-
-
80051799963
-
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
-
Banugaria SG, Prater SN, Ng YK, et al. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med. 2011;13:729-36.
-
(2011)
Genet Med
, vol.13
, pp. 729-736
-
-
Banugaria, S.G.1
Prater, S.N.2
Ng, Y.K.3
-
14
-
-
70349733015
-
Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa
-
Lipinski SE, Lipinski MJ, Burnette A, Platts-Mills TA, Wilson WG. Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa. Mol Genet Metab. 2009;98:319-21.
-
(2009)
Mol Genet Metab
, vol.98
, pp. 319-321
-
-
Lipinski, S.E.1
Lipinski, M.J.2
Burnette, A.3
Platts-Mills, T.A.4
Wilson, W.G.5
-
15
-
-
84881145296
-
Immune modulation therapy in a CRIM-positive and IgG antibody-positive infant with Pompe disease treated with alglucosidase alfa: A case report
-
Markic J, Polic B, Kuzmanic-Samija R, et al. Immune modulation therapy in a CRIM-positive and IgG antibody-positive infant with Pompe disease treated with alglucosidase alfa: a case report. JIMD Rep. 2012;2:11-5.
-
(2012)
JIMD Rep
, vol.2
, pp. 11-15
-
-
Markic, J.1
Polic, B.2
Kuzmanic-Samija, R.3
-
17
-
-
84862566433
-
The impact of antibodies in late-onset Pompe disease: A case series and literature review
-
Patel TT, Banugaria SG, Case LE, Wenninger S, Schoser B, Kishnani PS. The impact of antibodies in late-onset Pompe disease: a case series and literature review. Mol Genet Metab. 2012;106:301-9.
-
(2012)
Mol Genet Metab
, vol.106
, pp. 301-309
-
-
Patel, T.T.1
Banugaria, S.G.2
Case, L.E.3
Wenninger, S.4
Schoser, B.5
Kishnani, P.S.6
-
18
-
-
78649323564
-
High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa
-
de Vries JM, van der Beek NA, Kroos MA, et al. High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa. Mol Genet Metab. 2010;101:338-45.
-
(2010)
Mol Genet Metab
, vol.101
, pp. 338-345
-
-
De Vries, J.M.1
Van Der Beek, N.A.2
Kroos, M.A.3
-
19
-
-
84876476681
-
Enzyme replacement therapy in late-onset Pompe disease: A systematic literature review
-
Toscano A, Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol. 2013;260:951-9.
-
(2013)
J Neurol
, vol.260
, pp. 951-959
-
-
Toscano, A.1
Schoser, B.2
-
20
-
-
40449085408
-
Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model
-
DOI 10.1111/j.1365-2249.2008.03602.x
-
Joseph A, Munroe K, Housman M, Garman R, Richards S. Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model. Clin Exp Immunol. 2008;152:138-46. (Pubitemid 351347554)
-
(2008)
Clinical and Experimental Immunology
, vol.152
, Issue.1
, pp. 138-146
-
-
Joseph, A.1
Munroe, K.2
Housman, M.3
Garman, R.4
Richards, S.5
-
21
-
-
84874193620
-
The use of non-depleting anti-CD4 monoclonal antibody for immune tolerance induction in Pompe disease
-
Banugaria S, Patel T, Prater S, et al. The use of non-depleting anti-CD4 monoclonal antibody for immune tolerance induction in Pompe disease. Mol Genet Metab. 2012;105:290.
-
(2012)
Mol Genet Metab
, vol.105
, pp. 290
-
-
Banugaria, S.1
Patel, T.2
Prater, S.3
-
22
-
-
84897020359
-
Approach to management of cross-reactive immunologic material (CRIM)-negative infantile pompe patients treated with ERT: Role of immune modulation in changing the natural history
-
Banugaria S, Prater S, Patel T, et al. Approach to management of cross-reactive immunologic material (CRIM)-negative infantile pompe patients treated with ERT: role of immune modulation in changing the natural history. Mol Genet Metab. 2013;108:23.
-
(2013)
Mol Genet Metab
, vol.108
, pp. 23
-
-
Banugaria, S.1
Prater, S.2
Patel, T.3
-
23
-
-
16644388759
-
Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease
-
Hunley TE, Corzo D, Dudek M, et al. Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease. Pediatrics. 2004;114:532-5.
-
(2004)
Pediatrics
, vol.114
, pp. 532-535
-
-
Hunley, T.E.1
Corzo, D.2
Dudek, M.3
-
24
-
-
84862827574
-
Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: Need for agents to target antibody-secreting plasma cells
-
Banugaria SG, Patel TT, Mackey J, et al. Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells. Mol Genet Metab. 2012;105:677-80.
-
(2012)
Mol Genet Metab
, vol.105
, pp. 677-680
-
-
Banugaria, S.G.1
Patel, T.T.2
Mackey, J.3
-
25
-
-
84873548573
-
Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: Lessons learned from Pompe disease
-
Banugaria SG, Prater SN, McGann JK, et al. Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease. Genet Med. 2013;15:123-31.
-
(2013)
Genet Med
, vol.15
, pp. 123-131
-
-
Banugaria, S.G.1
Prater, S.N.2
McGann, J.K.3
-
26
-
-
84856223173
-
Infantile Pompe disease on ERT: Update on clinical presentation, musculoskeletal management, and exercise considerations
-
Case LE, Beckemeyer AA, Kishnani PS. Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations. Am J Med Genet C Semin Med Genet. 2012;160:69-79.
-
(2012)
Am J Med Genet C Semin Med Genet
, vol.160
, pp. 69-79
-
-
Case, L.E.1
Beckemeyer, A.A.2
Kishnani, P.S.3
|