-
1
-
-
82255179514
-
Atypical immunologic response in a patient with CRIM-negative Pompe disease
-
COI: 1:CAS:528:DC%2BC3MXhsFert7fI, PID: 21889385
-
Abbott M, Prater SN, Banugaria SG et al (2011) Atypical immunologic response in a patient with CRIM-negative Pompe disease. Mol Genet Metab 104:583–586
-
(2011)
Mol Genet Metab
, vol.104
, pp. 583-586
-
-
Abbott, M.1
Prater, S.N.2
Banugaria, S.G.3
-
2
-
-
84903908876
-
CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy
-
Al Khallaf HH, Propst J, Geffrard S et al (2013) CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy. JIMD Rep 9:133–137
-
(2013)
JIMD Rep
, vol.9
, pp. 133-137
-
-
Al Khallaf, H.H.1
Propst, J.2
Geffrard, S.3
-
3
-
-
84856212433
-
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience
-
COI: 1:CAS:528:DC%2BC38XhtFShsbg%3D
-
Bali DS, Goldstein JL, Banugaria S et al (2012) Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. Am J Med Genet C: Semin Med Genet 160:40–49
-
(2012)
Am J Med Genet C: Semin Med Genet
, vol.160
, pp. 40-49
-
-
Bali, D.S.1
Goldstein, J.L.2
Banugaria, S.3
-
4
-
-
80051799963
-
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease
-
COI: 1:CAS:528:DC%2BC3MXpvVCjurk%3D, PID: 21637107
-
Banugaria SG, Prater SN, Ng Y-K et al (2011) The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med 13:729–736
-
(2011)
Genet Med
, vol.13
, pp. 729-736
-
-
Banugaria, S.G.1
Prater, S.N.2
Ng, Y.-K.3
-
5
-
-
84873548573
-
Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease
-
COI: 1:CAS:528:DC%2BC3sXit1Gktro%3D, PID: 23060045
-
Banugaria SG, Prater SN, McGann JK et al (2013a) Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease. Genet Med 15:123–131
-
(2013)
Genet Med
, vol.15
, pp. 123-131
-
-
Banugaria, S.G.1
Prater, S.N.2
McGann, J.K.3
-
6
-
-
84879340927
-
Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile Pompe disease: a step towards improving the efficacy of ERT
-
COI: 1:CAS:528:DC%2BC3sXhtV2qurfL, PID: 23825616
-
Banugaria SG, Prater SN, Patel TT et al (2013b) Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile Pompe disease: a step towards improving the efficacy of ERT. PloS One 8:e67052
-
(2013)
PloS One
, vol.8
-
-
Banugaria, S.G.1
Prater, S.N.2
Patel, T.T.3
-
7
-
-
0032737067
-
Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models
-
COI: 1:CAS:528:DyaK1MXms1ygtL4%3D, PID: 10527678
-
Brooks DA (1999) Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models. Mol Genet Metab 68:268–275
-
(1999)
Mol Genet Metab
, vol.68
, pp. 268-275
-
-
Brooks, D.A.1
-
8
-
-
0142153023
-
Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder
-
COI: 1:CAS:528:DC%2BD3sXnvVKku7w%3D, PID: 14557058
-
Brooks DA, Kakavanos R, Hopwood JJ (2003) Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder. Trends Mol Med 9:450–453
-
(2003)
Trends Mol Med
, vol.9
, pp. 450-453
-
-
Brooks, D.A.1
Kakavanos, R.2
Hopwood, J.J.3
-
9
-
-
79952562144
-
Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience
-
COI: 1:CAS:528:DC%2BC3cXhsVygsLrE, PID: 20865334
-
Chakrapani A, Vellodi A, Robinson P et al (2010) Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience. J Inherit Metab Dis 33:747–750
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 747-750
-
-
Chakrapani, A.1
Vellodi, A.2
Robinson, P.3
-
10
-
-
78649323564
-
High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa
-
PID: 20826098
-
De Vries JM, van der Beek NAME, Kroos MA et al (2010) High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa. Mol Genet Metab 101:338–345
-
(2010)
Mol Genet Metab
, vol.101
, pp. 338-345
-
-
De Vries, J.M.1
van der Beek, N.A.M.E.2
Kroos, M.A.3
-
11
-
-
78649900589
-
Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I
-
Dierenfeld AD, McEntee MF, Vogler C a, et al (2010) Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. Sci Transl Med 2:60ra89.
-
(2010)
Sci Transl Med 2:60ra89
-
-
Dierenfeld, A.D.1
McEntee, M.F.2
C a, V.3
-
12
-
-
84872904896
-
How to describe the clinical spectrum in Pompe disease?
-
PID: 23300052
-
Güngör D, Reuser AJJ (2013) How to describe the clinical spectrum in Pompe disease? Am J Med Genet A 161A:399–400
-
(2013)
Am J Med Genet A
, vol.161A
, pp. 399-400
-
-
Güngör, D.1
Reuser, A.J.J.2
-
13
-
-
0031937991
-
Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry
-
COI: 1:CAS:528:DyaK1cXhvVehsrw%3D, PID: 9521422
-
Hermans MM, Kroos MA, Smeitink JA et al (1998) Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. Hum Mutat 11:209–215
-
(1998)
Hum Mutat
, vol.11
, pp. 209-215
-
-
Hermans, M.M.1
Kroos, M.A.2
Smeitink, J.A.3
-
14
-
-
0000995321
-
Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency
-
Scriver C, Beaudet A, Valle D, Sly W, (eds), McGraw-Hill, New-York:
-
Hirschhorn R, Reuser AJJ (2001) Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver C, Beaudet A, Valle D, Sly W (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New-York, pp 3389–3420
-
(2001)
The metabolic and molecular bases of inherited disease
, pp. 3389-3420
-
-
Hirschhorn, R.1
Reuser, A.J.J.2
-
15
-
-
16644388759
-
Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease
-
PID: 15466083
-
Hunley TE, Corzo D, Dudek M et al (2004) Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease. Pediatrics 114:e532–e535
-
(2004)
Pediatrics
, vol.114
, pp. 532-535
-
-
Hunley, T.E.1
Corzo, D.2
Dudek, M.3
-
16
-
-
33646830132
-
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
-
PID: 16737883
-
Kishnani PS, Hwu W-L, Mandel H et al (2006a) A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 148:671–676
-
(2006)
J Pediatr
, vol.148
, pp. 671-676
-
-
Kishnani, P.S.1
Hwu, W.-L.2
Mandel, H.3
-
17
-
-
33746151202
-
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease
-
COI: 1:CAS:528:DC%2BD28XntFSns7c%3D, PID: 16860134
-
Kishnani PS, Nicolino M, Voit T et al (2006b) Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr 149:89–97
-
(2006)
J Pediatr
, vol.149
, pp. 89-97
-
-
Kishnani, P.S.1
Nicolino, M.2
Voit, T.3
-
18
-
-
33846033132
-
Recombinant human acid α-glucosidase: major clinical benefits in infantile-onset Pompe disease
-
COI: 1:CAS:528:DC%2BD2sXosFSg, PID: 17151339
-
Kishnani PS, Corzo D, Nicolino M et al (2007) Recombinant human acid α-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 68:99–109
-
(2007)
Neurology
, vol.68
, pp. 99-109
-
-
Kishnani, P.S.1
Corzo, D.2
Nicolino, M.3
-
19
-
-
70350448214
-
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease
-
COI: 1:CAS:528:DC%2BD1MXpsFygtrw%3D, PID: 19542901
-
Kishnani PS, Corzo D, Leslie ND et al (2009) Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res 66:329–335
-
(2009)
Pediatr Res
, vol.66
, pp. 329-335
-
-
Kishnani, P.S.1
Corzo, D.2
Leslie, N.D.3
-
20
-
-
71649099089
-
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
-
COI: 1:CAS:528:DC%2BD1MXhsFGgtb7I, PID: 19775921
-
Kishnani PS, Goldenberg PC, DeArmey SL et al (2010) Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab 99:26–33
-
(2010)
Mol Genet Metab
, vol.99
, pp. 26-33
-
-
Kishnani, P.S.1
Goldenberg, P.C.2
DeArmey, S.L.3
-
21
-
-
15044345490
-
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial
-
COI: 1:STN:280:DC%2BD2M%2FhsVCiuw%3D%3D, PID: 15639117
-
Klinge L, Straub V, Neudorf U et al (2005a) 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 15:24–31
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 24-31
-
-
Klinge, L.1
Straub, V.2
Neudorf, U.3
-
22
-
-
18444368694
-
Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study
-
COI: 1:CAS:528:DC%2BD2MXjt1Cmtbo%3D, PID: 15776317
-
Klinge L, Straub V, Neudorf U, Voit T (2005b) Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study. Neuropediatrics 36:6–11
-
(2005)
Neuropediatrics
, vol.36
, pp. 6-11
-
-
Klinge, L.1
Straub, V.2
Neudorf, U.3
Voit, T.4
-
23
-
-
0030841171
-
A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II
-
COI: 1:CAS:528:DyaK2sXls1ygt7Y%3D, PID: 9266392
-
Kroos MA, Waitfield AE, Joosse M et al (1997) A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II. J Inherit Metab Dis 20:556–558
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 556-558
-
-
Kroos, M.A.1
Waitfield, A.E.2
Joosse, M.3
-
24
-
-
33846079722
-
Broad spectrum of Pompe disease in patients with the same c.-32-13T- > G haplotype
-
COI: 1:STN:280:DC%2BD2s%2FhsFSiug%3D%3D, PID: 17210890
-
Kroos MA, Pomponio RJ, Hagemans ML et al (2007) Broad spectrum of Pompe disease in patients with the same c.-32-13T- > G haplotype. Neurology 68:110–115
-
(2007)
Neurology
, vol.68
, pp. 110-115
-
-
Kroos, M.A.1
Pomponio, R.J.2
Hagemans, M.L.3
-
26
-
-
0037066427
-
The danger model: a renewed sense of self
-
COI: 1:CAS:528:DC%2BD38XjtVWiurk%3D, PID: 11951032
-
Matzinger P (2002) The danger model: a renewed sense of self. Science 296:301–305
-
(2002)
Science
, vol.296
, pp. 301-305
-
-
Matzinger, P.1
-
27
-
-
58149381758
-
Elimination of antibodies to recombinant enzyme in Pompe’s disease
-
COI: 1:CAS:528:DC%2BD1MXnt1entg%3D%3D, PID: 19129538
-
Mendelsohn NJ, Messinger YH, Rosenberg AS, Kishnani PS (2009) Elimination of antibodies to recombinant enzyme in Pompe’s disease. N Engl J Med 360:194–195
-
(2009)
N Engl J Med
, vol.360
, pp. 194-195
-
-
Mendelsohn, N.J.1
Messinger, Y.H.2
Rosenberg, A.S.3
Kishnani, P.S.4
-
28
-
-
84855542158
-
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease
-
COI: 1:CAS:528:DC%2BC38Xjt1aiu7o%3D, PID: 22237443
-
Messinger YH, Mendelsohn NJ, Rhead W et al (2012) Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med 14:135–142
-
(2012)
Genet Med
, vol.14
, pp. 135-142
-
-
Messinger, Y.H.1
Mendelsohn, N.J.2
Rhead, W.3
-
29
-
-
63449127241
-
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
-
COI: 1:CAS:528:DC%2BD1MXjt1Sruro%3D, PID: 19287243
-
Nicolino M, Byrne B, Wraith JE et al (2009) Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 11:210–219
-
(2009)
Genet Med
, vol.11
, pp. 210-219
-
-
Nicolino, M.1
Byrne, B.2
Wraith, J.E.3
-
30
-
-
84862566433
-
The impact of antibodies in late-onset Pompe disease: A case series and literature review
-
COI: 1:CAS:528:DC%2BC38XntlWlurw%3D, PID: 22613277
-
Patel TT, Banugaria SG, Case LE et al (2012) The impact of antibodies in late-onset Pompe disease: A case series and literature review. Mol Genet Metab 106:301–309
-
(2012)
Mol Genet Metab
, vol.106
, pp. 301-309
-
-
Patel, T.T.1
Banugaria, S.G.2
Case, L.E.3
-
32
-
-
34248644321
-
Left ventricular mass in 169 healthy children and young adults assessed by three-dimensional echocardiography
-
COI: 1:STN:280:DC%2BD2s3pt12jsA%3D%3D, PID: 17486397
-
Poutanen T, Jokinen E (2007) Left ventricular mass in 169 healthy children and young adults assessed by three-dimensional echocardiography. Pediatr Cardiol 28:201–207
-
(2007)
Pediatr Cardiol
, vol.28
, pp. 201-207
-
-
Poutanen, T.1
Jokinen, E.2
-
33
-
-
84866732707
-
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy
-
COI: 1:CAS:528:DC%2BC38XhtlSmt7nI, PID: 22290025
-
Regnery C, Kornblum C, Hanisch F et al (2012) 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis 35:837–845
-
(2012)
J Inherit Metab Dis
, vol.35
, pp. 837-845
-
-
Regnery, C.1
Kornblum, C.2
Hanisch, F.3
-
34
-
-
0034729963
-
Recombinant human alpha-glucosidase from rabbit milk in Pompe patients
-
PID: 10972374
-
Van den Hout H, Reuser AJJ, Vulto AG et al (2000) Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 356:397–398
-
(2000)
Lancet
, vol.356
, pp. 397-398
-
-
Van den Hout, H.1
Reuser, A.J.J.2
Vulto, A.G.3
-
35
-
-
0042131675
-
The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature
-
PID: 12897283
-
Van den Hout HMP, Hop W, van Diggelen OP et al (2003) The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics 112:332–340
-
(2003)
Pediatrics
, vol.112
, pp. 332-340
-
-
Van den Hout, H.M.P.1
Hop, W.2
van Diggelen, O.P.3
-
36
-
-
2942570942
-
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
-
PID: 15121988
-
Van den Hout JMP, Kamphoven JHJ, Winkel LP et al (2004) Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 113:e448–e457
-
(2004)
Pediatrics
, vol.113
, pp. 448-457
-
-
Van den Hout, J.M.P.1
Kamphoven, J.H.J.2
Winkel, L.P.3
-
38
-
-
77950963839
-
A randomized study of alglucosidase alfa in late-onset Pompe’s disease
-
PID: 20393176
-
Van der Ploeg AT, Clemens PR, Corzo D et al (2010) A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med 362:1396–1406
-
(2010)
N Engl J Med
, vol.362
, pp. 1396-1406
-
-
Van der Ploeg, A.T.1
Clemens, P.R.2
Corzo, D.3
-
39
-
-
85016686444
-
Antibody formation to enzyme therapy in classic infantile Pompe disease: Implications of patient age
-
Van Gelder CM, Kroos MA, Ozkan L, et al (2012) Antibody formation to enzyme therapy in classic infantile Pompe disease: Implications of patient age. J Inherit Metab Dis 35 Suppl 1:S12.
-
(2012)
J Inherit Metab Dis 35 Suppl
, vol.1
, pp. 12
-
-
Van Gelder, C.M.1
Kroos, M.A.2
Ozkan, L.3
-
40
-
-
49449090469
-
Neutralizing antibodies to therapeutic enzymes: considerations for testing, prevention and treatment
-
COI: 1:CAS:528:DC%2BD1cXps1WmtLg%3D, PID: 18688246
-
Wang J, Lozier J, Johnson G et al (2008) Neutralizing antibodies to therapeutic enzymes: considerations for testing, prevention and treatment. Nat Biotechnol 26:901–908
-
(2008)
Nat Biotechnol
, vol.26
, pp. 901-908
-
-
Wang, J.1
Lozier, J.2
Johnson, G.3
|