-
1
-
-
0000314638
-
Over idiopathische hypertrophie van het hart
-
Pompe JC. Over idiopathische hypertrophie van het hart. Ned Tijdschr Geneeskd 1932;76:304-11
-
(1932)
Ned Tijdschr Geneeskd
, vol.76
, pp. 304-311
-
-
Pompe, J.C.1
-
2
-
-
0000995321
-
Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency
-
Scriver CR Beaudet AL Sly WS Valle D eds. . New York NY: McGraw-Hill
-
Hirshhorn R, Reuser A. Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill, 2001:3389-420
-
(2001)
Metabolic and Molecular Bases of Inherited Disease
, pp. 3389-3420
-
-
Hirshhorn, R.1
Reuser, A.2
-
3
-
-
77049149336
-
Glycogen structure and enzyme deficiencies in glycogen storage disease
-
Cori GT. Glycogen structure and enzyme deficiencies in glycogen storage disease. Harvey Lect 1954;8:145-71
-
(1954)
Harvey Lect
, vol.8
, pp. 145-171
-
-
Cori, G.T.1
-
4
-
-
73649187940
-
Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe's disease)
-
Hers HG. Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe's disease). Biochem J 1963;86:11-16
-
(1963)
Biochem J
, vol.86
, pp. 11-16
-
-
Hers, H.G.1
-
5
-
-
33646714143
-
Lysosomal dysfunction, cellular pathology and clinical symptoms: Basic principles
-
Reuser AJ, Drost MR. Lysosomal dysfunction, cellular pathology and clinical symptoms: Basic principles. Acta Paediatr Suppl 2006;95:77-82
-
(2006)
Acta Paediatr Suppl
, vol.95
, pp. 77-82
-
-
Reuser, A.J.1
Drost, M.R.2
-
6
-
-
0031716741
-
Recombinant human acid alpha-glucosidase: High level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice
-
Bijvoet AG, Kroos MA, Pieper FR, et al. Recombinant human acid alpha-glucosidase: High level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice. Hum Mol Genet 1998;7:1815-24
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1815-1824
-
-
Bijvoet, A.G.1
Kroos, M.A.2
Pieper, F.R.3
-
7
-
-
0001448360
-
Glycogen storage disease type II (GSDII)
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York, NY: McGraw-Hill
-
Hirschhorn R. Glycogen storage disease type II (GSDII). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease, 7th ed, Vol 2. New York, NY: McGraw-Hill, 1995: 2443-65
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease, 7th Ed
, vol.2
, pp. 2443-2465
-
-
Hirschhorn, R.1
-
8
-
-
33646830132
-
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
-
Kishnani PS, Hwu W-L, Mandel H, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006;148:671-76
-
(2006)
J Pediatr
, vol.148
, pp. 671-676
-
-
Kishnani, P.S.1
Hwu, W.-L.2
Mandel, H.3
-
9
-
-
29244448048
-
Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease
-
Pellegrini N, Laforet P, Orlikowski D, et al. Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease. Eur Respir J 2005;26:1024-31
-
(2005)
Eur Respir J
, vol.26
, pp. 1024-1031
-
-
Pellegrini, N.1
Laforet, P.2
Orlikowski, D.3
-
10
-
-
33644994280
-
Course of disability and respiratory function in untreated late-onset Pompe disease
-
Hagemans MLC, Hop WJC, Van Doorn PA, et al. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology 2006;66:581-83
-
(2006)
Neurology
, vol.66
, pp. 581-583
-
-
Hagemans, M.L.C.1
Hop, W.J.C.2
Van Doorn, P.A.3
-
11
-
-
0042691320
-
Neuropathological and neurochemical aspects of generalized glycogen storage disease
-
Crome L, Cumings JN, Duckett S. Neuropathological and neurochemical aspects of generalized glycogen storage disease. J Neurol Neurosurg Psychiatry 1963;26:422-30
-
(1963)
J Neurol Neurosurg Psychiatry
, vol.26
, pp. 422-430
-
-
Crome, L.1
Cumings, J.N.2
Duckett, S.3
-
13
-
-
0015093712
-
Nervous system in Pompe's disease. Ultrastructure and biochemistry
-
Gambetti P, DiMauro S, Baker L. Nervous system in Pompe's disease. Ultrastructure and biochemistry. J Neuropathol Exp Neurol 1971;30: 412-30
-
(1971)
J Neuropathol Exp Neurol
, vol.30
, pp. 412-430
-
-
Gambetti, P.1
Dimauro, S.2
Baker, L.3
-
14
-
-
0015929582
-
Pompe's disease: An inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle
-
Martin JJ, de Barsy T, van Hoof F, et al. Pompe's disease: An inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle. Acta Neuropathol (Berl) 1973;23:229-44
-
(1973)
Acta Neuropathol (Berl)
, vol.23
, pp. 229-244
-
-
Martin, J.J.1
De Barsy, T.2
Van Hoof, F.3
-
15
-
-
0015538410
-
The spectrum and diagnosis of acid maltase deficiency
-
Engel AG, Gomez MR, Seybold ME, et al. The spectrum and diagnosis of acid maltase deficiency. Neurol 1973;23:95-106
-
(1973)
Neurol
, vol.23
, pp. 95-106
-
-
Engel, A.G.1
Gomez, M.R.2
Seybold, M.E.3
-
16
-
-
0035845610
-
Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2
-
Martini C, Ciana G, Benettoni A, et al. Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2. Neurol 2001;57: 906-8
-
(2001)
Neurol
, vol.57
, pp. 906-908
-
-
Martini, C.1
Ciana, G.2
Benettoni, A.3
-
17
-
-
33751211826
-
Characterization of preand post-treatment pathology after enzyme replacement therapy for Pompe disease
-
Thurberg GBL, Maloney CL, Vaccaro C, et al. Characterization of preand post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest 2006;86:1208-20
-
(2006)
Lab Invest
, vol.86
, pp. 1208-1220
-
-
Thurberg, G.B.L.1
Maloney, C.L.2
Vaccaro, C.3
-
18
-
-
0020679193
-
Improvement of muscle function in acid maltase deficiency by high-protein therapy
-
Slonim AE, Coleman RA, McElligot MA, et al. Improvement of muscle function in acid maltase deficiency by high-protein therapy. Neurol 1983;33:34-8
-
(1983)
Neurol
, vol.33
, pp. 34-38
-
-
Slonim, A.E.1
Coleman, R.A.2
McElligot, M.A.3
-
19
-
-
0024417608
-
The effect of a high protein diet on leucine and alanine turnover in acid maltase deficiency
-
Umpleby AM, Trend PS, Chubb D, et al. The effect of a high protein diet on leucine and alanine turnover in acid maltase deficiency. J Neurol Neurosurg Psychiatry 1989;52:954-61
-
(1989)
J Neurol Neurosurg Psychiatry
, vol.52
, pp. 954-961
-
-
Umpleby, A.M.1
Trend, P.S.2
Chubb, D.3
-
20
-
-
3242668008
-
Infantile-onset glycogen storage disease type II (Pompe disease): Report of a case with genetic diagnosis and pathological findings
-
Teng YT, Su WJ, Hou JW, et al. Infantile-onset glycogen storage disease type II (Pompe disease): Report of a case with genetic diagnosis and pathological findings. Chang Gung Med J 2004;27:379-84
-
(2004)
Chang Gung Med J
, vol.27
, pp. 379-384
-
-
Teng, Y.T.1
Su, W.J.2
Hou, J.W.3
-
21
-
-
0034729963
-
Recombinant human alpha-glucosidase from rabbit milk in Pompe patients
-
Van den Hout H, Reuser AJ, Vulto AG, et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 2000;356: 397-98
-
(2000)
Lancet
, vol.356
, pp. 397-398
-
-
Van Den Hout, H.1
Reuser, A.J.2
Vulto, A.G.3
-
22
-
-
33745918604
-
Pompe disease (glycogen storage disease type II): Clinical features and enzyme replacement therapy
-
van der Beek NA, Hagemans ML, van der Ploeg AT, et al. Pompe disease (glycogen storage disease type II): Clinical features and enzyme replacement therapy. Acta Neurol Belg 2006;106:82-86
-
(2006)
Acta Neurol Belg
, vol.106
, pp. 82-86
-
-
Van Der Beek, N.A.1
Hagemans, M.L.2
Van Der Ploeg, A.T.3
-
23
-
-
33846033132
-
Recombinant human acid a-glucosidase
-
Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid a-glucosidase. Neurol 2007;68:99-109
-
(2007)
Neurol
, vol.68
, pp. 99-109
-
-
Kishnani, P.S.1
Corzo, D.2
Nicolino, M.3
-
24
-
-
6844254522
-
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease
-
Bijvoet AG, van de Kamp EH, Kroos MA, et al. Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum Mol Genet 1998;7:53-62
-
(1998)
Hum Mol Genet
, vol.7
, pp. 53-62
-
-
Bijvoet, A.G.1
Van De Kamp, E.H.2
Kroos, M.A.3
-
25
-
-
14444274334
-
Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II
-
Raben N, Nagaraju K, Lee E, et al. Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II. J Biol Chem 1998;273:19086-92
-
(1998)
J Biol Chem
, vol.273
, pp. 19086-19092
-
-
Raben, N.1
Nagaraju, K.2
Lee, E.3
-
26
-
-
0032834144
-
Pathological features of glycogen storage disease type II highlighted in the knockout mouse model
-
Bijvoet AG, Van Hirtum H, Vermey M, et al. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol 1999;189:416-24
-
(1999)
J Pathol
, vol.189
, pp. 416-424
-
-
Bijvoet, A.G.1
Van Hirtum, H.2
Vermey, M.3
-
27
-
-
12344325056
-
High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology
-
Lynch C, Johnson J, Vaccaro C, et al. High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology. J Histochem Cytochem 2005;53:63-73
-
(2005)
J Histochem Cytochem
, vol.53
, pp. 63-73
-
-
Lynch, C.1
Johnson, J.2
Vaccaro, C.3
-
28
-
-
34548766647
-
Optimized preservation of CNS morphology for the identification of glycogen in the Pompe mouse model
-
Taksir TV, Griffiths D, Johnson J, et al. Optimized preservation of CNS morphology for the identification of glycogen in the Pompe mouse model. J Histochem Cytochem 2007;55:991-98
-
(2007)
J Histochem Cytochem
, vol.55
, pp. 991-998
-
-
Taksir, T.V.1
Griffiths, D.2
Johnson, J.3
-
29
-
-
0029894380
-
Integrated evaluation of central nervous system lesions: Stains for neurons, astrocytes, and microglia reveal the spatial and temporal features of MK-801-induced neuronal necrosis in the rat cerebral cortex
-
Fix AS, Ross JF, Stitzel SR, et al. Integrated evaluation of central nervous system lesions: Stains for neurons, astrocytes, and microglia reveal the spatial and temporal features of MK-801-induced neuronal necrosis in the rat cerebral cortex. Toxicol Pathol 1996;24:291-304
-
(1996)
Toxicol Pathol
, vol.24
, pp. 291-304
-
-
Fix, A.S.1
Ross, J.F.2
Stitzel, S.R.3
-
30
-
-
26944466762
-
Mapping and reconstruction of domoic acidYinduced neurodegeneration in the mouse brain
-
Colman JR, Nowocin KJ, Switzer RC, et al. Mapping and reconstruction of domoic acidYinduced neurodegeneration in the mouse brain. Neurotoxicol Teratol 2005;27:753-67
-
(2005)
Neurotoxicol Teratol
, vol.27
, pp. 753-767
-
-
Colman, J.R.1
Nowocin, K.J.2
Switzer, R.C.3
-
31
-
-
0019427553
-
A modified cupric-silver technique for the impregnation of degenerating neurons and their processes
-
Carlsen J, De Olmos JS. A modified cupric-silver technique for the impregnation of degenerating neurons and their processes. Br Res 1981; 208:426-31
-
(1981)
Br Res
, vol.208
, pp. 426-431
-
-
Carlsen, J.1
De Olmos, J.S.2
-
32
-
-
0028132219
-
Use of an amino-cupric-silver technique for the detection of early and semiacute neuronal degeneration caused by neurotoxicants, hypoxia, and physical trauma
-
de Olmos JS, Beltramino CA, de Olmos de Lorenzo S. Use of an amino-cupric-silver technique for the detection of early and semiacute neuronal degeneration caused by neurotoxicants, hypoxia, and physical trauma. Neurotoxicol Teratol 1994;16:545-61
-
(1994)
Neurotoxicol Teratol
, vol.16
, pp. 545-561
-
-
De Olmos, J.S.1
Beltramino, C.A.2
De Olmos De Lorenzo, S.3
-
33
-
-
13844253258
-
Fluoro-Jade C results in ultra high resolution and contrast labeling of degenerating neurons
-
Schmued LC, Stowerts CC, Scallet AC, et al. Fluoro-Jade C results in ultra high resolution and contrast labeling of degenerating neurons. Br Res 2005;1035:24-31
-
(2005)
Br Res
, vol.1035
, pp. 24-31
-
-
Schmued, L.C.1
Stowerts, C.C.2
Scallet, A.C.3
-
34
-
-
34247854776
-
Fluoro-Jade C can specifically stain the degenerative neurons in the substantia nigra of the 1-methyl-4- phenyl-1,2,3,6-tetrahydro pyridineYtreated C57BL/6 mice
-
Bian G-L, Wei L-C, Shi M, et al. Fluoro-Jade C can specifically stain the degenerative neurons in the substantia nigra of the 1-methyl-4- phenyl-1,2,3,6-tetrahydro pyridineYtreated C57BL/6 mice. Br Res 2007;1150:55-61
-
(2007)
Br Res
, vol.1150
, pp. 55-61
-
-
Bian, G.-L.1
Wei, L.-C.2
Shi, M.3
-
35
-
-
0033040497
-
Subventricular zone astrocytes are neural stem cells in the adult mammalian brain
-
Doetsch F, Caille I, Lim DA, et al. Subventricular zone astrocytes are neural stem cells in the adult mammalian brain. Cell 1999;97:703-16
-
(1999)
Cell
, vol.97
, pp. 703-716
-
-
Doetsch, F.1
Caille, I.2
Lim, D.A.3
-
37
-
-
35948984187
-
Synaptic plasticity (and the lack thereof) in hippocampal CA2 neurons
-
Zhao M, Choi Y-S, Obrietan K, et al. Synaptic plasticity (and the lack thereof) in hippocampal CA2 neurons. J Neurosci 2007;27:12025-32
-
(2007)
J Neurosci
, vol.27
, pp. 12025-12032
-
-
Zhao, M.1
Choi, Y.-S.2
Obrietan, K.3
-
38
-
-
33645776188
-
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease
-
Fukuda T, Ewan L, Bauer M, et al. Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol 2006; 59:700-8
-
(2006)
Ann Neurol
, vol.59
, pp. 700-708
-
-
Fukuda, T.1
Ewan, L.2
Bauer, M.3
-
40
-
-
34547653869
-
Fatigue: An important feature of late-onset Pompe disease
-
Hagemans ML, van Schie SP, Janssens AC, et al. Fatigue: An important feature of late-onset Pompe disease. J Neurol 2007;254:941-45
-
(2007)
J Neurol
, vol.254
, pp. 941-945
-
-
Hagemans, M.L.1
Van Schie, S.P.2
Janssens, A.C.3
-
41
-
-
34347328229
-
Increased aortic stiffness in glycogenosis type 2 (Pompe's disease)
-
Nemes A, Soliman OI, Geleijnse ML, et al. Increased aortic stiffness in glycogenosis type 2 (Pompe's disease). Int J Cardiol 2007;120: 138-41
-
(2007)
Int J Cardiol
, vol.120
, pp. 138-141
-
-
Nemes, A.1
Soliman, O.I.2
Geleijnse, M.L.3
-
42
-
-
0023489807
-
Fusiform aneurysm of basilar artery and ectatic internal carotid arteries associated with glycogenosis type 2 (Pompe's disease)
-
Braunsdorf WE. Fusiform aneurysm of basilar artery and ectatic internal carotid arteries associated with glycogenosis type 2 (Pompe's disease). Neurosurg 1987;21:748-49
-
(1987)
Neurosurg
, vol.21
, pp. 748-749
-
-
Braunsdorf, W.E.1
-
43
-
-
0029349183
-
Evidence of molecular heterogeneity for generalised glycogenosis between and within breeds of cattle
-
Healy PJ, Nicholls PJ, Martiniuk F, et al. Evidence of molecular heterogeneity for generalised glycogenosis between and within breeds of cattle. Aust Vet J 1995;72:309-11
-
(1995)
Aust Vet J
, vol.72
, pp. 309-311
-
-
Healy, P.J.1
Nicholls, P.J.2
Martiniuk, F.3
-
44
-
-
0021949683
-
Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease)
-
Walvoort HC, Dormans JA, van den Ingh TS. Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease). J Inherit Metab Dis 1985;8:38-46
-
(1985)
J Inherit Metab Dis
, vol.8
, pp. 38-46
-
-
Walvoort, H.C.1
Dormans, J.A.2
Van Den Ingh, T.S.3
-
45
-
-
0029738045
-
Pathological study of Japanese quail embryo with acid alpha-glucosidase deficiency during early development
-
Miyagawa-Tomita S, Morishima M, Nakazawa M, et al. Pathological study of Japanese quail embryo with acid alpha-glucosidase deficiency during early development. Acta Neuropath 1996;92: 249-54
-
(1996)
Acta Neuropath
, vol.92
, pp. 249-254
-
-
Miyagawa-Tomita, S.1
Morishima, M.2
Nakazawa, M.3
-
46
-
-
2342451983
-
Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse
-
Kamphoven JH, de Ruiter MM, Winkel LP, et al. Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse. Neurobiol Dis 2004;16:14-20
-
(2004)
Neurobiol Dis
, vol.16
, pp. 14-20
-
-
Kamphoven, J.H.1
De Ruiter, M.M.2
Winkel, L.P.3
-
47
-
-
70349086761
-
Ocular histopathology in generalized glycogenosis (Pompe's disease)
-
Toussaint D, Danis P. Ocular histopathology in generalized glycogenosis (Pompe's disease). Arch Ophthalmol 1965;73:342-49
-
(1965)
Arch Ophthalmol
, vol.73
, pp. 342-349
-
-
Toussaint, D.1
Danis, P.2
-
48
-
-
0018095011
-
Ultrastructural observations on the retina in type II glycogenosis (Pompe's disease)
-
Goebel HH, Kohlschütter A, Pilz H. Ultrastructural observations on the retina in type II glycogenosis (Pompe's disease). Ophthalmologica 1978; 176:61-68
-
(1978)
Ophthalmologica
, vol.176
, pp. 61-68
-
-
Goebel, H.H.1
Kohlschütter, A.2
Pilz, H.3
-
49
-
-
0016291536
-
Glycogenosis type II (Pompe's disease): Ultrastructure of peripheral nerves
-
Araoz C, Sun CN, Shenefelt R, et al. Glycogenosis type II (Pompe's disease): Ultrastructure of peripheral nerves. Neurology 1974;24: 739-42
-
(1974)
Neurology
, vol.24
, pp. 739-742
-
-
Araoz, C.1
Sun, C.N.2
Shenefelt, R.3
-
50
-
-
0022897210
-
Quantitative histological study of the sural nerve in a child with acid maltase deficiency (glycogenosis type II)
-
Origuchi Y, Itai Y, Matsumoto S, et al. Quantitative histological study of the sural nerve in a child with acid maltase deficiency (glycogenosis type II). Pediatr Neurol 1986;2:346-49
-
(1986)
Pediatr Neurol
, vol.2
, pp. 346-349
-
-
Origuchi, Y.1
Itai, Y.2
Matsumoto, S.3
-
51
-
-
34250869118
-
Adult-onset glycogen storage disease type 2: Clinico-pathological phenotype revisited
-
Schoser BG, Muller-Hocker J, Horvath R, et al. Adult-onset glycogen storage disease type 2: Clinico-pathological phenotype revisited. Neuropathol Appl Neurobiol 2007;33:544-59
-
(2007)
Neuropathol Appl Neurobiol
, vol.33
, pp. 544-559
-
-
Schoser, B.G.1
Muller-Hocker, J.2
Horvath, R.3
-
52
-
-
34547761212
-
Astrocyte glycogen and brain energy metabolism
-
Brown AM, Ransom BR. Astrocyte glycogen and brain energy metabolism. Glia 2007;55:1263-71
-
(2007)
Glia
, vol.55
, pp. 1263-1271
-
-
Brown, A.M.1
Ransom, B.R.2
-
53
-
-
2942570942
-
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
-
Van den Hout JM, Kamphoven JH, Winkel LP, 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
-
54
-
-
15044356217
-
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
-
Hagemans MLC, Winkel LPF, Van Doorn PA, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005;128:671-77
-
(2005)
Brain
, vol.128
, pp. 671-677
-
-
Hagemans, M.L.C.1
Winkel, L.P.F.2
Van Doorn, P.A.3
-
55
-
-
23944445667
-
The natural course of non-classic Pompe's disease: A review of 225 published cases
-
Winkel LPF, Hagemans MLC, van Doorn PA, et al. The natural course of non-classic Pompe's disease: A review of 225 published cases. J Neurol 2005;252:875-84
-
(2005)
J Neurol
, vol.252
, pp. 875-884
-
-
Winkel, L.P.F.1
Hagemans, M.L.C.2
Van Doorn, P.A.3
-
56
-
-
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;3:132-38
-
(2001)
Genet Med
, vol.3
, pp. 132-138
-
-
Amalfitano, A.1
Bengur, A.R.2
Morse, R.P.3
-
57
-
-
33745584427
-
Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alphaglucosidase enzyme replacement therapy for Pompe disease
-
Cook AL, Kishnani PS, Carboni MP, et al. Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alphaglucosidase enzyme replacement therapy for Pompe disease. Genet Med 2006;8:313-17
-
(2006)
Genet Med
, vol.8
, pp. 313-317
-
-
Cook, A.L.1
Kishnani, P.S.2
Carboni, M.P.3
-
58
-
-
12144287218
-
Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up
-
Winkel LP, Van den Hout JM, Kamphoven JH, et al. Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up. Ann Neurol 2004;55:495-502
-
(2004)
Ann Neurol
, vol.55
, pp. 495-502
-
-
Winkel, L.P.1
Van Den Hout, J.M.2
Kamphoven, J.H.3
-
59
-
-
15044345490
-
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: Results of a phase II clinical trial
-
Klinge L, Straub V, Neudorf U, 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
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 24-31
-
-
Klinge, L.1
Straub, V.2
Neudorf, U.3
-
60
-
-
34250744225
-
Long-term enzyme replacement therapy for Pompe disease with recombinant human a-glucosidase derived from Chinese hamster ovary cells
-
Rossi M, Parenti G, Della Casa R, et al. Long-term enzyme replacement therapy for Pompe disease with recombinant human a-glucosidase derived from Chinese hamster ovary cells. J Child Neurol 2007;22: 565-73
-
(2007)
J Child Neurol
, vol.22
, pp. 565-573
-
-
Rossi, M.1
Parenti, G.2
Della Casa, R.3
-
61
-
-
32944476769
-
Enzyme replacement for lysosomal diseases
-
Brady RO. Enzyme replacement for lysosomal diseases. Annu Rev Med 2006;57:283-96
-
(2006)
Annu Rev Med
, vol.57
, pp. 283-296
-
-
Brady, R.O.1
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