-
1
-
-
33646830132
-
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
-
Kishnani PS, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006;148(5):671–676.
-
(2006)
J Pediatr
, vol.148
, Issue.5
, pp. 671-676
-
-
Kishnani, PS1
-
2
-
-
0042131675
-
The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature
-
van den Hout HM, et al. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003;112(2):332–340.
-
(2003)
Pediatrics
, vol.112
, Issue.2
, pp. 332-340
-
-
van den Hout, HM1
-
3
-
-
33846033132
-
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease
-
Kishnani PS, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68(2):99–109.
-
(2007)
Neurology
, vol.68
, Issue.2
, pp. 99-109
-
-
Kishnani, PS1
-
4
-
-
70350448214
-
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease
-
Kishnani PS, et al. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009;66(3):329–335.
-
(2009)
Pediatr Res
, vol.66
, Issue.3
, pp. 329-335
-
-
Kishnani, PS1
-
5
-
-
63449127241
-
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
-
Nicolino M, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009; 11(3):210–219.
-
(2009)
Genet Med
, vol.11
, Issue.3
, pp. 210-219
-
-
Nicolino, M1
-
6
-
-
71649099089
-
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
-
Kishnani PS, et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010;99(1):26–33.
-
(2010)
Mol Genet Metab
, vol.99
, Issue.1
, pp. 26-33
-
-
Kishnani, PS1
-
7
-
-
84946607678
-
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy
-
Berrier KL, et al. CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy. Genet Med. 2015;17(11):912–918.
-
(2015)
Genet Med
, vol.17
, Issue.11
, pp. 912-918
-
-
Berrier, KL1
-
8
-
-
80051799963
-
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease
-
Banugaria SG, 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(8):729–736.
-
(2011)
Genet Med
, vol.13
, Issue.8
, pp. 729-736
-
-
Banugaria, SG1
-
9
-
-
84864357489
-
Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature
-
Hobson-Webb LD, et al. Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature. Mol Genet Metab. 2012;106(4):462–469.
-
(2012)
Mol Genet Metab
, vol.106
, Issue.4
, pp. 462-469
-
-
Hobson-Webb, LD1
-
10
-
-
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
-
Banugaria SG, et al. 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. 2013;8(6):e67052.
-
(2013)
PLoS One
, vol.8
, Issue.6
, pp. e67052
-
-
Banugaria, SG1
-
11
-
-
84866695334
-
Immune modulation in Pompe disease treated with enzyme replacement therapy
-
Banugaria SG, Patel TT, Kishnani PS. Immune modulation in Pompe disease treated with enzyme replacement therapy. Expert Rev Clin Immunol. 2012;8(6):497–499.
-
(2012)
Expert Rev Clin Immunol
, vol.8
, Issue.6
, pp. 497-499
-
-
Banugaria, SG1
Patel, TT2
Kishnani, PS.3
-
12
-
-
84855542158
-
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease
-
Messinger YH, et al. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med. 2012;14(1):135–142.
-
(2012)
Genet Med
, vol.14
, Issue.1
, pp. 135-142
-
-
Messinger, YH1
-
13
-
-
84882887346
-
B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease
-
e1
-
Elder ME, et al. B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2013;163(3):847–854.e1.
-
(2013)
J Pediatr
, vol.163
, Issue.3
, pp. 847-854
-
-
Elder, ME1
-
14
-
-
16644388759
-
Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease
-
Hunley TE, et al. Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease. Pediatrics. 2004; 114(4):e532–535.
-
(2004)
Pediatrics
, vol.114
, Issue.4
, pp. e532-e535
-
-
Hunley, TE1
-
15
-
-
84903518026
-
Immune tolerance induced using plasma exchange and rituximab in an infantile Pompe disease patient
-
Deodato F, et al. Immune tolerance induced using plasma exchange and rituximab in an infantile Pompe disease patient. J Child Neurol. 2014;–29(6):850–854.
-
(2014)
J Child Neurol
, vol.29
, Issue.6
, pp. 850-854
-
-
Deodato, F1
-
16
-
-
84873548573
-
Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease
-
Banugaria SG, 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(2):123–131.
-
(2013)
Genet Med
, vol.15
, Issue.2
, pp. 123-131
-
-
Banugaria, SG1
-
17
-
-
85136213307
-
-
Genzyme Corporation: Cambridge (MA)
-
Myozyme, [Package Insert]. 2006, Genzyme Corporation: Cambridge (MA).
-
(2006)
-
-
-
18
-
-
0025733974
-
Left ventricular myocardial mass determined by cross-sectional echocardiography in normal newborns, infants, and children
-
Vogel M, Staller W, Buhlmeyer K. Left ventricular myocardial mass determined by cross-sectional echocardiography in normal newborns, infants, and children. Pediatr Cardiol. 1991;12(3):143–149.
-
(1991)
Pediatr Cardiol
, vol.12
, Issue.3
, pp. 143-149
-
-
Vogel, M1
Staller, W2
Buhlmeyer, K.3
-
19
-
-
68749119738
-
Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker
-
Young SP, et al. Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker. Genet Med. 2009;11(7):536–541.
-
(2009)
Genet Med
, vol.11
, Issue.7
, pp. 536-541
-
-
Young, SP1
-
20
-
-
58149381758
-
Elimination of antibodies to recombinant enzyme in Pompe’s disease
-
Mendelsohn NJ, et al. Elimination of antibodies to recombinant enzyme in Pompe’s disease. N Engl J Med. 2009;360(2):194–195.
-
(2009)
N Engl J Med
, vol.360
, Issue.2
, pp. 194-195
-
-
Mendelsohn, NJ1
-
21
-
-
20444433230
-
Bortezomib or high-dose dexamethasone for relapsed multiple myeloma
-
Richardson PG, et al. Bortezomib or high-dose dexamethasone for relapsed multiple myeloma. N Engl J Med. 2005;352(24):2487–2498.
-
(2005)
N Engl J Med
, vol.352
, Issue.24
, pp. 2487-2498
-
-
Richardson, PG1
-
22
-
-
84923225602
-
Successful reduction of high-sustained anti-idursulfase antibody titers by immune modulation therapy in a patient with severe mucopolysaccharidosis type II
-
Kim KH, Messinger YH, Burton BK. Successful reduction of high-sustained anti-idursulfase antibody titers by immune modulation therapy in a patient with severe mucopolysaccharidosis type II. Mol Genet Metab Rep. 2015;2:20–24.
-
(2015)
Mol Genet Metab Rep
, vol.2
, pp. 20-24
-
-
Kim, KH1
Messinger, YH2
Burton, BK.3
-
23
-
-
33746151202
-
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease
-
Kishnani PS, et al. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006;149(1):89–97.
-
(2006)
J Pediatr
, vol.149
, Issue.1
, pp. 89-97
-
-
Kishnani, PS1
-
24
-
-
84856212433
-
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience
-
Bali DS, et al. 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. 2012;160C(1):40–49.
-
(2012)
Am J Med Genet C Semin Med Genet
, vol.160C
, Issue.1
, pp. 40-49
-
-
Bali, DS1
|