-
1
-
-
0000314638
-
Concerning idiopathic hypertrophy of the heart
-
J.C. Pompe Concerning idiopathic hypertrophy of the heart Ned Tijdschr Geneeskd 76 1932 304 311
-
(1932)
Ned Tijdschr Geneeskd
, vol.76
, pp. 304-311
-
-
Pompe, J.C.1
-
2
-
-
2342537868
-
Pompe disease in infants and children
-
P.S. Kishnani, and R.R. Howell Pompe disease in infants and children J Pediatr 144 2004 S35 S43
-
(2004)
J Pediatr
, vol.144
, pp. S35-S43
-
-
Kishnani, P.S.1
Howell, R.R.2
-
3
-
-
0042131675
-
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
-
H.M. van den Hout, W. Hop, O.P. van Diggelen, J.A. Smeitink, G.P. Smit, B.T. Poll-The, and et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature Pediatrics 112 2003 332 340
-
(2003)
Pediatrics
, vol.112
, pp. 332-340
-
-
Van Den Hout, H.M.1
Hop, W.2
Van Diggelen, O.P.3
Smeitink, J.A.4
Smit, G.P.5
Poll-The, B.T.6
-
4
-
-
84890786429
-
A large-scale nationwide newborn screening program for Pompe disease in Taiwan: Towards effective diagnosis and treatment
-
C.F. Yang, H.C. Liu, T.R. Hsu, F.C. Tsai, S.F. Chiang, C.C. Chiang, and et al. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment Am J Med Genet A 164A 2014 54 61
-
(2014)
Am J Med Genet A
, vol.164 A
, pp. 54-61
-
-
Yang, C.F.1
Liu, H.C.2
Hsu, T.R.3
Tsai, F.C.4
Chiang, S.F.5
Chiang, C.C.6
-
5
-
-
0030093811
-
Molecular study on the infantile form of Pompe disease in Chinese in Taiwan
-
C.Y. Lin, and J.J. Shieh Molecular study on the infantile form of Pompe disease in Chinese in Taiwan Zhonhua Min Guo Xiao Er Ke Yi Xue Hui Za Ahi 37 1996 115 121
-
(1996)
Zhonhua Min Guo Xiao Er Ke Yi Xue Hui Za Ahi
, vol.37
, pp. 115-121
-
-
Lin, C.Y.1
Shieh, J.J.2
-
6
-
-
84973427700
-
Late-onset pompe disease with left-sided bronchomalacia
-
C.F. Yang, D.M. Niu, M.J. Jeng, Y.S. Lee, P.C. Taso, and W.J. Soong Late-onset pompe disease with left-sided bronchomalacia Respir Care 60 2015 e26 e29
-
(2015)
Respir Care
, vol.60
, pp. e26-e29
-
-
Yang, C.F.1
Niu, D.M.2
Jeng, M.J.3
Lee, Y.S.4
Taso, P.C.5
Soong, W.J.6
-
7
-
-
33646830132
-
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
-
P.S. Kishnani, W.L. Hwu, H. Mandel, M. Nicolino, F. Yong, D. Corzo, and et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease J Pediatr 148 2006 671 676
-
(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
-
8
-
-
84894088711
-
Detecting multiple lysosomal storage diseases by tandem mass spectrometry- A national newborn screening program in Taiwan
-
H.C. Liao, C.C. Chiang, D.M. Niu, C.H. Wang, S.M. Kao, F.J. Tsai, and et al. Detecting multiple lysosomal storage diseases by tandem mass spectrometry- A national newborn screening program in Taiwan Clin Chim Acta 431 2014 80 86
-
(2014)
Clin Chim Acta
, vol.431
, pp. 80-86
-
-
Liao, H.C.1
Chiang, C.C.2
Niu, D.M.3
Wang, C.H.4
Kao, S.M.5
Tsai, F.J.6
-
9
-
-
48249086144
-
Early detection of Pompe disease by newborn screening is feasible: Results from the Taiwan screening program
-
Y.H. Chien, S.C. Chiang, X.K. Zhang, J. Keutzer, N.C. Lee, A.C. Huang, and et al. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program Pediatrics 122 2008 e39 e45
-
(2008)
Pediatrics
, vol.122
, pp. e39-e45
-
-
Chien, Y.H.1
Chiang, S.C.2
Zhang, X.K.3
Keutzer, J.4
Lee, N.C.5
Huang, A.C.6
-
10
-
-
84929637936
-
Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth
-
Y.H. Chien, N.C. Lee, C.A. Chen, F.J. Tsai, W.H. Tsai, J.Y. Shieh, and et al. Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth J Pediatr 166 2015 985 991
-
(2015)
J Pediatr
, vol.166
, pp. 985-991
-
-
Chien, Y.H.1
Lee, N.C.2
Chen, C.A.3
Tsai, F.J.4
Tsai, W.H.5
Shieh, J.Y.6
-
11
-
-
0027070895
-
Construction and validation of the Alberta Infant Motor Scale (AIMS)
-
M.C. Piper, L.E. Pinnell, J. Darrah, T. Maguire, and P.J. Byrne Construction and validation of the Alberta Infant Motor Scale (AIMS) Can J Public Health 83 1992 S46 S50
-
(1992)
Can J Public Health
, vol.83
, pp. S46-S50
-
-
Piper, M.C.1
Pinnell, L.E.2
Darrah, J.3
Maguire, T.4
Byrne, P.J.5
-
12
-
-
84858282638
-
Early cognitive development in children with infantile Pompe disease
-
G.A. Spiridigliozzi, J.H. Heller, L.E. Case, H.N. Jones, and P.S. Kishnani Early cognitive development in children with infantile Pompe disease Mol Genet Metab 105 2012 428 432
-
(2012)
Mol Genet Metab
, vol.105
, pp. 428-432
-
-
Spiridigliozzi, G.A.1
Heller, J.H.2
Case, L.E.3
Jones, H.N.4
Kishnani, P.S.5
-
13
-
-
84863630908
-
Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy
-
B.J. Ebbink, F.K. Aarsen, C.M. van Gelder, J.M. van den Hout, N. Weisglas-Kuperus, J. Jaeken, and et al. Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy Neurology 78 2012 1512 1518
-
(2012)
Neurology
, vol.78
, pp. 1512-1518
-
-
Ebbink, B.J.1
Aarsen, F.K.2
Van Gelder, C.M.3
Van Den Hout, J.M.4
Weisglas-Kuperus, N.5
Jaeken, J.6
-
14
-
-
84897362437
-
Enzyme therapy and immune response in relation to CRIM status: The Dutch experience in classic infantile Pompe disease
-
C.M. van Gelder, M. Hoogeveen-Westerveld, M.A. Kroos, I. Plug, A.T. van der Ploeg, and A.J. Reuser Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease J Inherit Metab Dis 38 2015 305 314
-
(2015)
J Inherit Metab Dis
, vol.38
, pp. 305-314
-
-
Van Gelder, C.M.1
Hoogeveen-Westerveld, M.2
Kroos, M.A.3
Plug, I.4
Van Der Ploeg, A.T.5
Reuser, A.J.6
-
15
-
-
80051799963
-
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
-
S.G. Banugaria, S.N. Prater, Y.K. Ng, J.A. Kobori, R.S. Finkel, R.L. Ladda, and et al. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease Genet Med 13 2011 729 736
-
(2011)
Genet Med
, vol.13
, pp. 729-736
-
-
Banugaria, S.G.1
Prater, S.N.2
Ng, Y.K.3
Kobori, J.A.4
Finkel, R.S.5
Ladda, R.L.6
-
16
-
-
67349174661
-
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population
-
S. Kumamoto, T. Katafuchi, K. Nakamura, F. Endo, E. Oda, T. Okuyama, and et al. High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population Mol Genet Metab 97 2009 190 195
-
(2009)
Mol Genet Metab
, vol.97
, pp. 190-195
-
-
Kumamoto, S.1
Katafuchi, T.2
Nakamura, K.3
Endo, F.4
Oda, E.5
Okuyama, T.6
-
18
-
-
82255175878
-
Newborn screening for Pompe disease in Japan
-
E. Oda, T. Tanaka, O. Migita, M. Kosuga, M. Fukushi, T. Okumiya, and et al. Newborn screening for Pompe disease in Japan Mol Genet Metab 104 2011 560 565
-
(2011)
Mol Genet Metab
, vol.104
, pp. 560-565
-
-
Oda, E.1
Tanaka, T.2
Migita, O.3
Kosuga, M.4
Fukushi, M.5
Okumiya, T.6
-
19
-
-
36049038494
-
Newborn screening for Pompe disease: Synthesis of the evidence and development of screening recommendations
-
A.R. Kemper, W.L. Hwu, M. Lloyd-Puryear, and P.S. Kishnani Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations Pediatrics 120 2007 1327 1334
-
(2007)
Pediatrics
, vol.120
, pp. 1327-1334
-
-
Kemper, A.R.1
Hwu, W.L.2
Lloyd-Puryear, M.3
Kishnani, P.S.4
-
20
-
-
78649348369
-
Effect of enzyme therapy in unvenile patients with Pompe disease: A three-year open-label study
-
C.I. van Capelle, N.A. van der Beek, M.L. Hagemans, W.F. Arts, W.C. Hop, P. Lee, and et al. Effect of enzyme therapy in unvenile patients with Pompe disease: a three-year open-label study Neuromuscul Disord 20 2010 775 782
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 775-782
-
-
Van Capelle, C.I.1
Van Der Beek, N.A.2
Hagemans, M.L.3
Arts, W.F.4
Hop, W.C.5
Lee, P.6
-
21
-
-
84655162030
-
When should we start enzyme replacement therapy for infant Pompe disease with severe cardiomyopathy?
-
J.L. Bonilla-Palomas, A.L. Gamez-Lopez, M.A. Tejero-Hernandez, I. Tejero-Mateo, and J. López-López When should we start enzyme replacement therapy for infant Pompe disease with severe cardiomyopathy? Rev Esp Cardiol 65 2012 100 102
-
(2012)
Rev Esp Cardiol
, vol.65
, pp. 100-102
-
-
Bonilla-Palomas, J.L.1
Gamez-Lopez, A.L.2
Tejero-Hernandez, M.A.3
Tejero-Mateo, I.4
López-López, J.5
-
22
-
-
84862803485
-
Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomaker and imaging techniques
-
S.P. Young, M. Priaud, J.L. Goldstein, H. Zhang, C. Rehder, P. Laforet, and et al. Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomaker and imaging techniques Am J Med Genet C Semin Med Genet 160C 2012 50 58
-
(2012)
Am J Med Genet C Semin Med Genet
, vol.160 C
, pp. 50-58
-
-
Young, S.P.1
Priaud, M.2
Goldstein, J.L.3
Zhang, H.4
Rehder, C.5
Laforet, P.6
-
23
-
-
84856223173
-
Infantile Pompe disease on ERT: Update on clinical presentation, musculoskeletal management, and exercise considerations
-
L.E. Case, A.A. Beckemeyer, and P.S. Kishnani Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations Am J Med Genet C Semin Med Genet 160C 2012 69 79
-
(2012)
Am J Med Genet C Semin Med Genet
, vol.160 C
, pp. 69-79
-
-
Case, L.E.1
Beckemeyer, A.A.2
Kishnani, P.S.3
-
24
-
-
71949101824
-
Pompe disease in infants: Improving the prognosis by newborn screening and early treatment
-
Y.H. Chien, N.C. Lee, B.L. Thurberg, S.C. Chiang, X.K. Zhang, J. Keutzer, and et al. Pompe disease in infants: improving the prognosis by newborn screening and early treatment Pediatrics 124 2009 e1116 e1125
-
(2009)
Pediatrics
, vol.124
, pp. e1116-e1125
-
-
Chien, Y.H.1
Lee, N.C.2
Thurberg, B.L.3
Chiang, S.C.4
Zhang, X.K.5
Keutzer, J.6
-
25
-
-
71649099089
-
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
-
P.S. Kishnani, P.C. Goldenberg, S.L. DeArmey, J. Hreller, D. Benjamin, S. Young, and et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants Mol Genet Metab 99 2010 26 33
-
(2010)
Mol Genet Metab
, vol.99
, pp. 26-33
-
-
Kishnani, P.S.1
Goldenberg, P.C.2
DeArmey, S.L.3
Hreller, J.4
Benjamin, D.5
Young, S.6
-
26
-
-
84873548573
-
Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: Lessons learned from Pompe disease
-
S.G. Banugaria, S.N. Prater, J.K. McGann, J.D. Feldman, J.A. Tannenbaum, C. Bailey, and 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 15 2013 123 131
-
(2013)
Genet Med
, vol.15
, pp. 123-131
-
-
Banugaria, S.G.1
Prater, S.N.2
McGann, J.K.3
Feldman, J.D.4
Tannenbaum, J.A.5
Bailey, C.6
-
27
-
-
77950963839
-
A randomized study of alglucosidase alfa in late-onset Pompe's disease
-
A.T. van der Ploeg, P.R. Clemens, D. Corzo, D.M. Escolar, J. Florence, G.J. Groeneveld, and et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease N Engl J Med 362 2010 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
Escolar, D.M.4
Florence, J.5
Groeneveld, G.J.6
-
28
-
-
84862566433
-
The impact of antibodies in late-onset Pompe disease: A case series and literature review
-
T.T. Patel, S.G. Barnugaria, L.E. Case, S. Wenninger, B. Schoser, and P.S. Kishnani The impact of antibodies in late-onset Pompe disease: a case series and literature review Mol Genet Metab 106 2012 301 309
-
(2012)
Mol Genet Metab
, vol.106
, pp. 301-309
-
-
Patel, T.T.1
Barnugaria, S.G.2
Case, L.E.3
Wenninger, S.4
Schoser, B.5
Kishnani, P.S.6
-
29
-
-
0032737067
-
Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models
-
D.A. Brooks Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models Mol Genet Metab 68 1999 268 275
-
(1999)
Mol Genet Metab
, vol.68
, pp. 268-275
-
-
Brooks, D.A.1
-
30
-
-
78649900589
-
Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type i
-
A.D. Dierenfeld, M.F. McEntee, C.A. Vogler, C.H. Vite, A.H. Chen, M. Passage, and et al. 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 2010 60ra89
-
(2010)
Sci Transl Med
, vol.2
, pp. 60ra89
-
-
Dierenfeld, A.D.1
McEntee, M.F.2
Vogler, C.A.3
Vite, C.H.4
Chen, A.H.5
Passage, M.6
-
31
-
-
0037066427
-
The danger model: A renewed sense of self
-
P. Matzinger The danger model: a renewed sense of self Science 296 2002 301 305
-
(2002)
Science
, vol.296
, pp. 301-305
-
-
Matzinger, P.1
|