-
1
-
-
0000995321
-
Glycogen storage disease type II; acid α-glucosidase (acid maltase) deficiency
-
Scriver CR, Beaudet A, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Hirschhorn R, Reuser AJJ. Glycogen storage disease type II; acid α-glucosidase (acid maltase) deficiency. In: The metabolic and molecular bases of inherited disease. 8th ed. Vol III. Scriver CR, Beaudet A, Sly WS, Valle D, eds. New York: McGraw-Hill, 2000:3389-3420.
-
(2000)
The Metabolic and Molecular Bases of Inherited Disease. 8th Ed.
, vol.3
, pp. 3389-3420
-
-
Hirschhorn, R.1
Reuser, A.J.J.2
-
2
-
-
0001216507
-
Acid maltase deficiency
-
Engel A, Franzini-Armstrong C, eds. New York: McGraw-Hill
-
Engel A, Hirschhorn R. Acid maltase deficiency. In: Myology. Vol 2. 2nd ed. Engel A, Franzini-Armstrong C, eds. New York: McGraw-Hill, 1994:1533-1553.
-
(1994)
Myology. Vol 2. 2nd Ed.
, vol.2
, pp. 1533-1553
-
-
Engel, A.1
Hirschhorn, R.2
-
3
-
-
0042131675
-
The natural course of infantile Pompe's disease: 20 Original cases compared with 133 cases from the literature
-
Van den Hout JMP, Hop W, Van Diggelen OP, et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003; 112:332-340.
-
(2003)
Pediatrics
, vol.112
, pp. 332-340
-
-
Van Den Hout, J.M.P.1
Hop, W.2
Van Diggelen, O.P.3
-
4
-
-
0000436145
-
From cytosis to lysosomes
-
De Duve C. From cytosis to lysosomes. Fed Proc Am Soc Exp Biol 1964;23:1045-1049.
-
(1964)
Fed Proc Am Soc Exp Biol
, vol.23
, pp. 1045-1049
-
-
De Duve, C.1
-
5
-
-
0034729963
-
Recombinant human alpha-glucosidase from rabbit milk in Pompe patients
-
Van den Hout JMP, Reuser AJJ, Vulto AG, et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 2000;356:397-398.
-
(2000)
Lancet
, vol.356
, pp. 397-398
-
-
Van Den Hout, J.M.P.1
Reuser, A.J.J.2
Vulto, A.G.3
-
6
-
-
85061074031
-
Long-term intravenous treatment of Pompe's disease with recombinant human alpha-glucosidase from milk
-
in press
-
Van den Hout JMP, Kamphoven JHJ, Winkel LPF, et al. Long-term intravenous treatment of Pompe's disease with recombinant human alpha-glucosidase from milk. Pediatrics (in press).
-
Pediatrics
-
-
Van Den Hout, J.M.P.1
Kamphoven, J.H.J.2
Winkel, L.P.F.3
-
7
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency. Macrophage-targeted glucocerebrosidase for Gaucher's disease
-
Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency. Macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991; 324:1464-1470.
-
(1991)
N Engl J Med
, vol.324
, pp. 1464-1470
-
-
Barton, N.W.1
Brady, R.O.2
Dambrosia, J.M.3
-
8
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA III, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-2749.
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin III, H.A.3
-
9
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease
-
Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 2001;345:9-16.
-
(2001)
N Engl J Med
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
-
10
-
-
0035905889
-
Enzyme-replacement therapy in mucopolysaccharidosis I
-
Kakkis ED, Muenzer J, Tiller GE, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001;344: 182-188.
-
(2001)
N Engl J Med
, vol.344
, pp. 182-188
-
-
Kakkis, E.D.1
Muenzer, J.2
Tiller, G.E.3
-
11
-
-
0023694122
-
Prospect for enzyme therapy in glycogenosis II variants: A study on cultured muscle cells
-
Van der Ploeg AT, Bolhuis PA, Wolterman RA, et al. Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells. J Neurol 1988;235:392-396.
-
(1988)
J Neurol
, vol.235
, pp. 392-396
-
-
Van Der Ploeg, A.T.1
Bolhuis, P.A.2
Wolterman, R.A.3
-
13
-
-
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;7:1815-1824.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1815-1824
-
-
Bijvoet, A.G.1
Kroos, M.A.2
Pieper, F.R.3
-
14
-
-
0032698194
-
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II
-
Bijvoet AG, Van Hirtum H, Kroos MA, et al. Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet 1999;8:2145-2153.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2145-2153
-
-
Bijvoet, A.G.1
Van Hirtum, H.2
Kroos, M.A.3
-
15
-
-
0035009304
-
Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk
-
Van den Hout JMP, Reuser AJJ, de Klerk JBC, et al. Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis 2001;24: 266-274.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 266-274
-
-
Van Den Hout, J.M.P.1
Reuser, A.J.J.2
De Klerk, J.B.C.3
-
16
-
-
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;3:132-138.
-
(2001)
Genet Med
, vol.3
, pp. 132-138
-
-
Amalfitano, A.1
Bengur, A.R.2
Morse, R.P.3
-
17
-
-
0017799772
-
Biochemical, immunological, and cell genetic studies in glycogenosis type II
-
Reuser AJ, Koster JF, Hoogeveen A, Galjaard H. Biochemical, immunological, and cell genetic studies in glycogenosis type II. Am J Hum Genet 1978;30:132-143.
-
(1978)
Am J Hum Genet
, vol.30
, pp. 132-143
-
-
Reuser, A.J.1
Koster, J.F.2
Hoogeveen, A.3
Galjaard, H.4
-
18
-
-
0038546958
-
Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy
-
Winkel LPF, Kamphoven JHJ, Van den Hout JMP, et al. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Muscle Nerve 2003;27:743-751.
-
(2003)
Muscle Nerve
, vol.27
, pp. 743-751
-
-
Winkel, L.P.F.1
Kamphoven, J.H.J.2
Van Den Hout, J.M.P.3
-
19
-
-
0004202651
-
-
Thesis. Groningen: Rijksuniversiteit Groningen, Department of Neurology
-
Van der Ploeg RJO. Hand-held dynamometry. Thesis. Groningen: Rijksuniversiteit Groningen, Department of Neurology, 1992.
-
(1992)
Hand-Held Dynamometry
-
-
Van Der Ploeg, R.J.O.1
-
20
-
-
0034980532
-
Reference values of maximum isometric muscle force obtained in 270 children aged 4-16 years by hand-held dynamometry
-
Beenakker EA, van der Hoeven JH, Fock JM, Maurits NM. Reference values of maximum isometric muscle force obtained in 270 children aged 4-16 years by hand-held dynamometry. Neuromuscul Disord 2001;11:441-446.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 441-446
-
-
Beenakker, E.A.1
Van Der Hoeven, J.H.2
Fock, J.M.3
Maurits, N.M.4
-
24
-
-
0034918907
-
Myogenic satellite cells: Physiology to molecular biology
-
Hawke TJ, Garry DJ. Myogenic satellite cells: physiology to molecular biology. J Appl Physiol 2001;91:534-551.
-
(2001)
J Appl Physiol
, vol.91
, pp. 534-551
-
-
Hawke, T.J.1
Garry, D.J.2
-
25
-
-
0036390045
-
Enzyme therapy for Pompe disease: From science to industrial enterprise
-
Reuser AJJ, Van den Hout JMP, Bijvoet AG, et al. Enzyme therapy for Pompe disease: from science to industrial enterprise. Eur J Pediatr 2002;161(suppl 1):S106-S111.
-
(2002)
Eur J Pediatr
, vol.161
, Issue.SUPPL. 1
-
-
Reuser, A.J.J.1
Van Den Hout, J.M.P.2
Bijvoet, A.G.3
-
26
-
-
1642413839
-
Transgenic technology in the production of therapeutic proteins
-
Dimond PF. Transgenic technology in the production of therapeutic proteins. Innovations Pharmaceutical Technol 2000; 92-97.
-
(2000)
Innovations Pharmaceutical Technol
, pp. 92-97
-
-
Dimond, P.F.1
-
27
-
-
1642417074
-
Monitor. Brave new world of pharmaceuticals
-
Monitor. Brave new world of pharmaceuticals. Economist 2002;365:5-6.
-
(2002)
Economist
, vol.365
, pp. 5-6
-
-
|