-
1
-
-
0001448360
-
Glycogen storage disease type II: Acid α-glucosidase (acid maltase) deficiency
-
C.R. et al. Scriver. McGraw-Hill
-
Hirschhorn R. Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. Scriver C.R.et al. The Metabolic and Molecular Basis of Inherited Disease. 1995;2443-2464 McGraw-Hill.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 2443-2464
-
-
Hirschhorn, R.1
-
2
-
-
0029011224
-
Glycogenosis type II (acid maltase deficiency)
-
Reuser A.J.J.et al. Glycogenosis type II (acid maltase deficiency). Muscle Nerve. 3(Suppl.):1995;S61-S69.
-
(1995)
Muscle Nerve
, vol.3
, Issue.SUPPL.
-
-
Reuser, A.J.J.1
-
3
-
-
0029062275
-
Genetic defects in patients with glycogenosis type II (acid maltase deficiency)
-
Raben N.et al. Genetic defects in patients with glycogenosis type II (acid maltase deficiency). Muscle Nerve. 3:1995;570-574.
-
(1995)
Muscle Nerve
, vol.3
, pp. 570-574
-
-
Raben, N.1
-
4
-
-
0031695078
-
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease
-
Martiniuk F.et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am. J. Med. Genet. 79:1998;69-72.
-
(1998)
Am. J. Med. Genet.
, vol.79
, pp. 69-72
-
-
Martiniuk, F.1
-
5
-
-
0032848015
-
Frequency of glycogen storage disease type II in the Netherlands: Implication for diagnosis and genetic counseling
-
Ausems M.G.et al. Frequency of glycogen storage disease type II in the Netherlands: implication for diagnosis and genetic counseling. Eur. J. Hum. Genet. 7:1999;713.
-
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 713
-
-
Ausems, M.G.1
-
6
-
-
0015601095
-
Treatment related observations in solid tissues, fibroblast cultures and amniotic fluid cells of type II glycogenosis, Hurler disease and metachromatic leukodystrophy
-
Hug G.et al. Treatment related observations in solid tissues, fibroblast cultures and amniotic fluid cells of type II glycogenosis, Hurler disease and metachromatic leukodystrophy. Birth Defects Org. Ser. 9:1967;160-183.
-
(1967)
Birth Defects Org. Ser.
, vol.9
, pp. 160-183
-
-
Hug, G.1
-
7
-
-
0020679193
-
Improvement of muscle function in acid maltase deficiency by high protein diet
-
Slonim A.E.et al. Improvement of muscle function in acid maltase deficiency by high protein diet. Neurology. 33:1983;34.
-
(1983)
Neurology
, vol.33
, pp. 34
-
-
Slonim, A.E.1
-
8
-
-
0015601143
-
Enzyme replacement in Pompe disease: An attempt with purified human acid α-glucosidase
-
de Barsy T.et al. Enzyme replacement in Pompe disease: an attempt with purified human acid α-glucosidase. Birth Defects Orig. Art. Ser. 9:1973;184-190.
-
(1973)
Birth Defects Orig. Art. Ser.
, vol.9
, pp. 184-190
-
-
De Barsy, T.1
-
10
-
-
0026637316
-
Structure and function of the mannose 6-phosphate/insulin-like growth factor II receptors
-
Kornfeld S. Structure and function of the mannose 6-phosphate/insulin-like growth factor II receptors. Annu. Rev. Biochem. 61:1992;307-330.
-
(1992)
Annu. Rev. Biochem.
, vol.61
, pp. 307-330
-
-
Kornfeld, S.1
-
11
-
-
0023784539
-
Intracellular transport of acid alpha-glucosidase in human fibroblasts: Evidence for involvement of phosphomannosyl receptor-independent system
-
Tsuji A.et al. Intracellular transport of acid alpha-glucosidase in human fibroblasts: Evidence for involvement of phosphomannosyl receptor-independent system. J. Biochem. 104:1988;276-278.
-
(1988)
J. Biochem.
, vol.104
, pp. 276-278
-
-
Tsuji, A.1
-
12
-
-
0025236339
-
Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease
-
Barton N.W.et al. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc. Natl. Acad. Sci. U. S. A. 87:1990;1913-1916.
-
(1990)
Proc. Natl. Acad. Sci. U. S. A.
, vol.87
, pp. 1913-1916
-
-
Barton, N.W.1
-
13
-
-
0032793110
-
Recombinant protein for genetic disease
-
Russell C.S., Clark L. Recombinant protein for genetic disease. Clin. Genet. 55:1999;389-390.
-
(1999)
Clin. Genet.
, vol.55
, pp. 389-390
-
-
Russell, C.S.1
Clark, L.2
-
14
-
-
0032737067
-
Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models
-
Brooks D.A. 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
-
15
-
-
0002277647
-
Recombinant α-L-iduronidase replacement therapy in mucopolysaccharidosis I: Results of a human clinical trial
-
Kakkis E.et al. Recombinant α-L-iduronidase replacement therapy in mucopolysaccharidosis I: results of a human clinical trial. Am. J. Hum. Genet. 63:1998;A25.
-
(1998)
Am. J. Hum. Genet.
, vol.63
-
-
Kakkis, E.1
-
16
-
-
12944265457
-
Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
-
Schiffmann R.et al. Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc. Natl. Acad. Sci. U. S. A. 97:1999;365-370.
-
(1999)
Proc. Natl. Acad. Sci. U. S. A.
, vol.97
, pp. 365-370
-
-
Schiffmann, R.1
-
17
-
-
0031093070
-
Enzyme replacement therapy
-
Roth K.S. Enzyme replacement therapy. Clin. Pediatr. 36:1997;147-148.
-
(1997)
Clin. Pediatr.
, vol.36
, pp. 147-148
-
-
Roth, K.S.1
-
18
-
-
0026024185
-
Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice
-
Van der Ploeg A.T.et al. Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice. J. Clin. Invest. 87:1991;513-518.
-
(1991)
J. Clin. Invest.
, vol.87
, pp. 513-518
-
-
Van Der Ploeg, A.T.1
-
19
-
-
0030069717
-
High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease
-
Van Hove J.L.K.et al. High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease. Proc. Natl. Acad. Sci. U. S. A. 93:1996;65-70.
-
(1996)
Proc. Natl. Acad. Sci. U. S. A.
, vol.93
, pp. 65-70
-
-
Van Hove, J.L.K.1
-
20
-
-
0029559330
-
Isolation and characterization of a recombinant precursor form of lysosomal acid alpha-glucosidase
-
Fuller M.et al. Isolation and characterization of a recombinant precursor form of lysosomal acid alpha-glucosidase. Eur. J. Biochem. 234:1995;903-909.
-
(1995)
Eur. J. Biochem.
, vol.234
, pp. 903-909
-
-
Fuller, M.1
-
21
-
-
0031716741
-
Recombinant human acid alpha-glucosidase: High level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice
-
Bijvoet A.G.A.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. 7:1998;1815-1824.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1815-1824
-
-
Bijvoet, A.G.A.1
-
22
-
-
6844254522
-
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease
-
Bijvoet A.G.A.et al. Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum. Mol. Genet. 7:1998;53-62.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 53-62
-
-
Bijvoet, A.G.A.1
-
23
-
-
14444274334
-
Targeted disruption of the acid alpha-glucosidase gene in mice cause an illness with critical features of both infantile and adult human glycogen storage disease type II
-
Raben N.et al. Targeted disruption of the acid alpha-glucosidase gene in mice cause an illness with critical features of both infantile and adult human glycogen storage disease type II. J. Biol. Chem. 273:1998;19086-19092.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 19086-19092
-
-
Raben, N.1
-
24
-
-
0019072734
-
Glycogenosis II in a Japanese quail
-
Murakami H.et al. Glycogenosis II in a Japanese quail. Exp. Anim. 29:1980;475-485.
-
(1980)
Exp. Anim.
, vol.29
, pp. 475-485
-
-
Murakami, H.1
-
25
-
-
0032519686
-
Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase deficient quail
-
Kikuchi T.et al. Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase deficient quail. J. Clin. Invest. 101:1998;827-833.
-
(1998)
J. Clin. Invest.
, vol.101
, pp. 827-833
-
-
Kikuchi, T.1
-
26
-
-
4243354822
-
Correction of enzyme deficiency and improved tissue morphology after long term enzyme replacement therapy in GSD-II knockout mice
-
Bijvoet A.G.A.et al. Correction of enzyme deficiency and improved tissue morphology after long term enzyme replacement therapy in GSD-II knockout mice. Am. J. Hum. Genet. 63:1998;A397.
-
(1998)
Am. J. Hum. Genet.
, vol.63
-
-
Bijvoet, A.G.A.1
-
27
-
-
0033537836
-
Nucleotide exchange in genomic DNA of rat hepatocytes using RNA/DNA oligonucleotides - Targeted delivery of liposomes and polyethyleneimine to the asialoglycoprotein receptor
-
Bandyopadhyay P.et al. Nucleotide exchange in genomic DNA of rat hepatocytes using RNA/DNA oligonucleotides - Targeted delivery of liposomes and polyethyleneimine to the asialoglycoprotein receptor. J. Biol. Chem. 274:1999;10163-10172.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 10163-10172
-
-
Bandyopadhyay, P.1
-
28
-
-
0030669115
-
Retroviral transfer of acid alpha-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion
-
[Hum. Gene Ther. (1998) 9(6):930 erratum]
-
Zaretsky J.Z.et al. Retroviral transfer of acid alpha-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion. Hum. Gene. Ther. 8:1997;1555-1563. [Hum. Gene Ther. (1998) 9(6):930 erratum].
-
(1997)
Hum. Gene. Ther.
, vol.8
, pp. 1555-1563
-
-
Zaretsky, J.Z.1
-
29
-
-
0031689337
-
Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation
-
Nicolino M.P.et al. Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation. Hum. Mol. Genet. 7:1998;1695-1702.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1695-1702
-
-
Nicolino, M.P.1
-
30
-
-
0030865245
-
The fate of individual myoblasts after transplantation into muscles of DMD patients
-
Gussoni E.et al. The fate of individual myoblasts after transplantation into muscles of DMD patients. Nat. Med. 3:1997;970-977.
-
(1997)
Nat. Med.
, vol.3
, pp. 970-977
-
-
Gussoni, E.1
-
31
-
-
0026922764
-
Long-term persistence of plasmid DNA and foreign gene expression in mouse muscle
-
Wolff J.A.et al. Long-term persistence of plasmid DNA and foreign gene expression in mouse muscle. Hum. Mol. Genet. 1:1992;363-369.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 363-369
-
-
Wolff, J.A.1
-
32
-
-
0031942298
-
Complete correction of acid alpha-glucosidase deficiency in Pompe-disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle
-
Pauly D.F.et al. Complete correction of acid alpha-glucosidase deficiency in Pompe-disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle. Gene Ther. 5:1998;473-480.
-
(1998)
Gene Ther.
, vol.5
, pp. 473-480
-
-
Pauly, D.F.1
-
33
-
-
17344368406
-
Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of Japanese quail with acid maltase deficiency
-
Tsujino S.et al. Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of Japanese quail with acid maltase deficiency. Hum. Gene Ther. 9:1998;1609-1616.
-
(1998)
Hum. Gene Ther.
, vol.9
, pp. 1609-1616
-
-
Tsujino, S.1
-
34
-
-
0032907636
-
Stable restoration of the sarcoglycan complex in dystrophic muscle perfused with histamine and a recombinant adeno-associated viral vector
-
Greelish J.P.et al. Stable restoration of the sarcoglycan complex in dystrophic muscle perfused with histamine and a recombinant adeno-associated viral vector. Nat. Med. 5:1999;439-443.
-
(1999)
Nat. Med.
, vol.5
, pp. 439-443
-
-
Greelish, J.P.1
-
35
-
-
0032745831
-
2-adrenergic receptor gene delivery
-
2-adrenergic receptor gene delivery. J. Clin. Invest. 104:1999;21-29.
-
(1999)
J. Clin. Invest.
, vol.104
, pp. 21-29
-
-
Maurice, J.P.1
-
36
-
-
0033540652
-
Persistence of an [E1-, polymerase-] adenovirus vector despite transduction of a neoantigen into immune-competent mice
-
Hu H.M.et al. Persistence of an [E1-, polymerase-] adenovirus vector despite transduction of a neoantigen into immune-competent mice. Hum. Gene Ther. 10:1999;355-364.
-
(1999)
Hum. Gene Ther.
, vol.10
, pp. 355-364
-
-
Hu, H.M.1
-
37
-
-
0033529902
-
Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid α-glucosidase
-
Amalfitano A.et al. Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid α-glucosidase. Proc. Natl. Acad. Sci. U. S. A. 96:1999;8861-8866.
-
(1999)
Proc. Natl. Acad. Sci. U. S. A.
, vol.96
, pp. 8861-8866
-
-
Amalfitano, A.1
-
38
-
-
0033166317
-
Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer
-
Ziegler R.J.et al. Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer. Hum. Gene Ther. 10:1999;1667-1682.
-
(1999)
Hum. Gene Ther.
, vol.10
, pp. 1667-1682
-
-
Ziegler, R.J.1
-
39
-
-
2042538384
-
Recruitment of bone-marrow-derived cells by skeletal and cardiac muscle in adult dystrophic mdx mice
-
Bittner R.G.et al. Recruitment of bone-marrow-derived cells by skeletal and cardiac muscle in adult dystrophic mdx mice. Anat. Embryol. 199:1999;391-396.
-
(1999)
Anat. Embryol.
, vol.199
, pp. 391-396
-
-
Bittner, R.G.1
-
40
-
-
0032489651
-
Muscle regeneration by bone marrow-derived myogenic progenitors
-
Ferrari G.et al. Muscle regeneration by bone marrow-derived myogenic progenitors. Science. 279:1998;1528-1530.
-
(1998)
Science
, vol.279
, pp. 1528-1530
-
-
Ferrari, G.1
-
41
-
-
0033598374
-
Dystrophin expression in the mdx mouse restored by stem cell transplantation
-
Gussoni E.et al. Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature. 401:1999;390-394.
-
(1999)
Nature
, vol.401
, pp. 390-394
-
-
Gussoni, E.1
|