-
1
-
-
0000995321
-
Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase deficiency)
-
Scriver CR, Beaudet A, Sly WS, Valle D, Childs B, Kinzler KW, et al., editors, New York: McGraw Hill
-
Hirschhorn R, Reuser AJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase deficiency). In: Scriver CR, Beaudet A, Sly WS, Valle D, Childs B, Kinzler KW, et al., 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.J.2
-
2
-
-
2342537868
-
Pompe disease in infants and children
-
DOI 10.1016/j.jpeds.2004.01.053
-
Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr. 2004;144: S35-43. (Pubitemid 38591273)
-
(2004)
Journal of Pediatrics
, vol.144
, Issue.5 SUPPL.
-
-
Kishnani, P.S.1
Howell, R.R.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
-
5
-
-
0042131675
-
The natural course of infantile Pompe's disease: 20 Original cases compared with 133 cases from the literature
-
DOI 10.1542/peds.112.2.332
-
Van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BTT, et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003;112:332-40. (Pubitemid 36951395)
-
(2003)
Pediatrics
, vol.112
, Issue.2 I
, pp. 332-340
-
-
Van Den Hout, H.M.P.1
Hop, W.2
Van Diggelen, O.P.3
Smeitink, J.A.M.4
Smit, G.P.A.5
Poll-The, B.-T.T.6
Bakker, H.D.7
Loonen, M.C.B.8
De Klerk, J.B.C.9
Reuser, A.J.J.10
Van Der Ploeg, A.T.11
-
6
-
-
33846033132
-
Recombinant human acid α-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, Byrne B, Mandel H, Hwu WL, et al. Recombinant human acid α-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 Ploeg, A.19
Clancy, J.P.20
Parini, R.21
Morin, G.22
Beck, M.23
De La Gastine, 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..
-
7
-
-
2942570942
-
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
-
Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics. 2004;113:448-57.
-
(2004)
Pediatrics
, vol.113
, pp. 448-457
-
-
Van Den Hout, J.M.1
Kamphoven, J.H.2
Winkel, L.P.3
Arts, W.F.4
De Klerk, J.B.5
Loonen, M.C.6
-
8
-
-
79951722659
-
-
® package insert available at
-
® package insert available at http://www.myozyme.com/.
-
-
-
-
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, Majure JM, Case LE, Veerling DL, 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
Majure, J.M.4
Case, L.E.5
Veerling, D.L.6
-
10
-
-
33746151202
-
Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease
-
DOI 10.1016/j.jpeds.2006.02.035, PII S0022347606001405
-
Kishnani PS, Nicolino M, Voit T, Rogers RC, Tsai AC, Waterson J, et al. Chinese hamster ovary cell-derived recombinant human acid α-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
-
11
-
-
18444368694
-
Enzyme replacement therapy in classical infantile Pompe disease: Results of a ten-month follow-up study
-
DOI 10.1055/s-2005-837543
-
Klinge L, Straub V, Neudorf U, Voit T. Enzyme replacement therapy in classical infantile Pompe disease: results of a 10-month follow-up study. Neuropediatrics. 2005;36:6-11. (Pubitemid 41115324)
-
(2005)
Neuropediatrics
, vol.36
, Issue.1
, pp. 6-11
-
-
Klinge, L.1
Straub, V.2
Neudorf, U.3
Voit, T.4
-
12
-
-
15044345490
-
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: Results of a phase II clinical trial
-
DOI 10.1016/j.nmd.2004.10.009
-
Klinge L, Straub V, Neudorf U, Schaper J, Bosbach T, Görlinger K, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord. 2005;15:24-31. (Pubitemid 41556629)
-
(2005)
Neuromuscular Disorders
, vol.15
, Issue.1
, pp. 24-31
-
-
Klinge, L.1
Straub, V.2
Neudorf, U.3
Schaper, J.4
Bosbach, T.5
Gorlinger, K.6
Wallot, M.7
Richards, S.8
Voit, T.9
-
13
-
-
63449127241
-
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
-
Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, 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
Leslie, N.4
Mandel, H.5
Freyer, D.R.6
-
14
-
-
34250744225
-
Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from Chinese hamster ovary cells
-
DOI 10.1177/0883073807302598
-
Rossi M, Parenti G, Della Casa R, Romano A, Mansi G, Agovino T, et al. Long-term enzyme1 replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from Chinese hamster ovary cells. J Child Neurol. 2007;22:565-73. (Pubitemid 46951500)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.5
, pp. 565-573
-
-
Rossi, M.1
Parenti, G.2
Della Casa, R.3
Romano, A.4
Mansi, G.5
Agovino, T.6
Rosapepe, F.7
Vosa, C.8
Del Giudice, E.9
Andria, G.10
-
15
-
-
0034729963
-
Recombinant human α-glucosidase from rabbit milk in Pompe patients
-
Van den DH, Reuser AJ, Vulto AG, Loonen MC, Cromme-Dijkhuis A, Van der Ploeg AT. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet. 2000;356:397-8. (Pubitemid 30487498)
-
(2000)
Lancet
, vol.356
, Issue.9227
, pp. 397-398
-
-
Van Hout, H.D.1
Reuser, A.J.J.2
Vulto, A.G.3
Christa B Loonen, M.4
Cromme-Dijkhuis, A.5
Van Der Ploeg, A.T.6
-
16
-
-
0035009304
-
Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk
-
DOI 10.1023/A:1010383421286
-
Van den Hout JMP, Reuser AJJ, Klerk JBC, Arts WF, Smeitink JAM, Van der Ploeg AT. Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk. J Inherit Metab Dis. 2001;24:266-74. (Pubitemid 32479420)
-
(2001)
Journal of Inherited Metabolic Disease
, vol.24
, Issue.2
, pp. 266-274
-
-
Van Den Hout, J.M.P.1
Reuser, A.J.J.2
De Klerk, J.B.C.3
Arts, W.F.4
Smeitink, J.A.M.5
Van Der Ploeg, A.T.6
-
17
-
-
34147184428
-
Fractures in children with Pompe disease: A potential long-term complication
-
DOI 10.1007/s00247-007-0428-y
-
Case LE, Hanna R, Frush DP, Krishnamurthy V, DeArmey S, Mackey J, et al. Fractures in children with Pompe disease: a potential long-term complication. Pediatr Radiol. 2007;37:437-45. (Pubitemid 46567092)
-
(2007)
Pediatric Radiology
, vol.37
, Issue.5
, pp. 437-445
-
-
Case, L.E.1
Hanna, R.2
Frush, D.P.3
Krishnamurthy, V.4
DeArmey, S.5
Mackey, J.6
Boney, A.7
Morgan, C.8
Corzo, D.9
Bouchard, S.10
Weber, T.J.11
Chen, Y.-T.12
Kishnani, P.S.13
-
18
-
-
2342451983
-
Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse
-
DOI 10.1016/j.nbd.2003.12.018, PII S0969996103002675
-
Kamphoven JH, de Ruiter MM, Winkel LP, Van den Hout HM, Bijman J, De Zeeuw CI, et al. Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse. Neurobiol Dis. 2004;16:14-20. (Pubitemid 38569791)
-
(2004)
Neurobiology of Disease
, vol.16
, Issue.1
, pp. 14-20
-
-
Kamphoven, J.H.J.1
De Ruiter, M.M.2
Winkel, L.P.F.3
Van Den Hout, H.M.P.4
Bijman, J.5
De Zeeuw, C.I.6
Hoeve, H.L.7
Van Zanten, B.A.8
Van Der Ploeg, A.T.9
Reuser, A.J.J.10
-
19
-
-
2942548954
-
Anaesthetic management of infants with glycogen storage disease type II: A physiological approach
-
DOI 10.1111/j.1460-9592.2004.01242.x
-
Ing RJ, Cook DR, Bengur RA, Williams EA, Eck J, Dear Gde L, et al. Anaesthetic management of infants with glycogen storage disease type II: a physiological approach. Paediatr Anaesth. 2004;14:514-9. (Pubitemid 38758675)
-
(2004)
Paediatric Anaesthesia
, vol.14
, Issue.6
, pp. 514-519
-
-
Ing, R.J.1
Cook, D.R.2
Bengur, R.A.3
Williams, E.A.4
Eck, J.5
Dear, G.D.L.6
Ross, A.K.7
Kern, F.H.8
Kishnani, P.S.9
-
20
-
-
34347209936
-
Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: A case series
-
DOI 10.1111/j.1460-9592.2007.02215.x
-
Wang LY, Ross AK, Li JS, Dearmey SM, Mackey JF, Worden M, et al. Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series. Paediatr Anaesth. 2007;17:738-48. (Pubitemid 47000653)
-
(2007)
Paediatric Anaesthesia
, vol.17
, Issue.8
, pp. 738-748
-
-
Wang, L.Y.-J.1
Ross, A.K.2
Li, J.S.3
Dearmey, S.M.4
Mackey, J.F.5
Worden, M.6
Corzo, D.7
Morgan, C.8
Kishnani, P.S.9
-
21
-
-
65449120324
-
Language and speech function in children with infantile Pompe disease
-
Muller CS, Jones HN, O'Grady G, Suarez AH, Heller JH, Kishnani PS. Language and speech function in children with infantile Pompe disease. J Pediatr Neurol. 2009;7:147-56.
-
(2009)
J. Pediatr. Neurol.
, vol.7
, pp. 147-156
-
-
Muller, C.S.1
Jones, H.N.2
O'Grady, G.3
Suarez, A.H.4
Heller, J.H.5
Kishnani, P.S.6
-
22
-
-
33745589302
-
Pompe disease diagnosis and management guideline
-
DOI 10.1097/01.gim.0000218152.87434.f3, PII 0012581720060500000001
-
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8:267-88. (Pubitemid 44297314)
-
(2006)
Genetics in Medicine
, vol.8
, Issue.5
, pp. 267-288
-
-
Kishnani, P.S.1
Steiner, R.D.2
Bali, D.3
Berger, K.4
Byrne, B.J.5
Case, L.6
Crowley, J.F.7
Downs, S.8
Howell, R.R.9
Kravitz, R.M.10
Mackey, J.11
Marsden, D.12
Martins, A.M.13
Millington, D.S.14
Nicolino, M.15
O'Grady, G.16
Patterson, M.C.17
Rapoport, D.M.18
Slonim, A.19
Spencer, C.T.20
Tifft, C.J.21
Watson, M.S.22
more..
-
24
-
-
2142804783
-
-
Clinics in Developmental Medicine, No. 159. Mac Keith Press, London
-
Russell DJ, Rosenbaum PL, Avery L, Lane M (2002) Gross Motor Function Measure (GMFM-66 and GMFM-88) user's manual. Clinics in Developmental Medicine, No. 159. Mac Keith Press, London
-
(2002)
Gross Motor Function Measure (GMFM-66 and GMFM-88) User's Manual
-
-
Russell, D.J.1
Rosenbaum, P.L.2
Avery, L.3
Lane, M.4
-
25
-
-
29244432482
-
Recommendations for chamber quantification: A report from the American Society of Echocardiography's guidelines and standards committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology
-
DOI 10.1016/j.echo.2005.10.005, PII S0894731705009831
-
Lang RM, Bierig M, Devereaux RB. Recommendations for chamber quantification: a report from the American Society of Echocardiography's guidelines and standards committee and the chamber quantification writing group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr. 2005;18:1440-63. (Pubitemid 41821197)
-
(2005)
Journal of the American Society of Echocardiography
, vol.18
, Issue.12
, pp. 1440-1463
-
-
Lang, R.M.1
Bierig, M.2
Devereux, R.B.3
Flachskampf, F.A.4
Foster, E.5
Pellikka, P.A.6
Picard, M.H.7
Roman, M.J.8
Seward, J.9
Shanewise, J.S.10
Solomon, S.D.11
Spencer, K.T.12
St John Sutton, M.13
Stewart, W.J.14
-
26
-
-
44449163540
-
A novel method of expressing left ventricular mass relative to body size in children
-
DOI 10.1161/CIRCULATIONAHA.107.741157, PII 0000301720080527000010
-
Foster BJ, Mackie AS, Mitsnefes M, Ali H, Mamber S, Colan S. A novel method of expressing left ventricular mass relative to body size in children. Circulation. 2008;117:2769-775. (Pubitemid 351770457)
-
(2008)
Circulation
, vol.117
, Issue.21
, pp. 2769-2775
-
-
Foster, B.J.1
MacKie, A.S.2
Mitsnefes, M.3
Ali, H.4
Mamber, S.5
Colan, S.D.6
-
27
-
-
33845876907
-
Pediatric feeding and swallowing problems: An interdisciplinary team approach
-
DOI 10.3148/67.4.2006.185
-
Williams S, Witherspoon K, Kavsak P, Patterson C, McBlain J. Pediatric feeding and swallowing problems: an interdisciplinary team approach. Can J Diet Pract Res. 2006;67:185-90. (Pubitemid 46018119)
-
(2006)
Canadian Journal of Dietetic Practice and Research
, vol.67
, Issue.4
, pp. 185-190
-
-
Williams, S.1
Witherspoon, K.2
Kavsak, P.3
Patterson, C.4
McBlain, J.5
|