Pompe's disease - RePub - Erasmus Universiteit Rotterdam

Chapter 1
112. Dorling, P.R., J.M. Howell, and J.M. Gawthorne, Skeletal-muscle alpha-glucosidases in bovine generalized
glycogenosis type II. Biochem J, 1981. 198(2): p. 409-12.
113. Oya, Y., et al., [Adult form of acid maltase defi ciency presenting with pattern of muscle weakness resembling
facioscapulohumeral dystrophy]. Rinsho Shinkeigaku, 2001. 41(7): p. 390-6.
114. O’Sullivan, B.M., et al., Generalised glycogenosis in Brahman cattle. Aust Vet J, 1981. 57(5): p. 227-9.
115. Healy, P.J., Diagnosis of genotypes for generalized glycogenosis in cattle. Biochem Med, 1982. 28(2): p. 224-8.
116. Miyagawa-Tomita, S., et al., Pathological study of Japanese quail embryo with acid α-glucosidase defi ciency
during early development. Acta Neuropathol, 1996. 92(3): p. 249-54.
117. Fujita, T., I. Nonaka, and H. Sugita, Japanese quail and human acid maltase defi ciency: a comparative study.
Brain Dev, 1991. 13(4): p. 247-55.
118. Czarnecki, C.M., J.K. Feneau, and E.F. Jankus, Blood glucose and tissue glycogen levels in turkey poults with
spontaneous round heart disease and furazolicone-induced cardiomyopathy. Avian Dis, 1975. 19: p. 773-780.
119. Czarnecki, C.M., A. Jegers, and E.F. Jankus, Characterization of glycogen in selected tissues of turkey poults
with spontaneous round heart disease and furazolidone-induced cardiomyopathy. Acta Anat (Basel), 1978.
102(1): p. 33-9.
120. Raben, N., 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(30): p.
19086-92.
121. Raben, N., et al., Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase
gene. Neuromuscul Disord, 2000. 10(4-5): p. 283-91.
122. Miyamoto, Y., et al., Adult-onset acid maltase defi ciency in siblings. Acta Pathol Jpn, 1985. 35(6): p. 1533-42.
123. Van Leenen, D., et al., A Low -Cost Computerized System to Monitor Running Performance and Circadian
Rythms of Twenty Mice Simultanaeously. Contemporary Topics, 1999. 38(6): p. 29-32.
124. Adams, E.M., et al., Glycogenosis type II: a juvenile-specifi c mutation with an unusual splicing pattern and a
shared mutation in African Americans. Hum Mutat, 1997. 10(2): p. 128-34.
125. Manchester, J., et al., Increased glycogen accumulation in transgenic mice overexpressing glycogen synthase
in skeletal muscle. Proc Natl Acad Sci U S A, 1996. 93(20): p. 10707-11.
126. Marshall, B.A., et al., Germline manipulation of glucose homeostasis via alteration of glucose transporter
levels in skeletal muscle. J Biol Chem, 1993. 268(25): p. 18442-5.
127. Raben, N., et al., Surprises of genetic engineering: a possible model of polyglucosan body disease. Neurology,
2001. 56(12): p. 1739-45.
128. Raben, N., et al., Induction of tolerance to a recombinant human enzyme, acid alpha- glucosidase, in enzyme
defi cient knockout mice. Transgenic Res, 2003. 12(2): p. 171-8.
129. Hoogerbrugge, P.M., et al., Bone marrow transplantation for Pompe’s disease. N Engl J Med, 1986. 315(1): p. 65-6.
130. Howell, J.M., et al., Natural bone marrow transplantation in cattle with Pompe’s disease. Neuromuscul Disord,
1991. 1(6): p. 449-54.
131. Bodamer, O.A., J.V. Leonard, and D. Halliday, Dietary treatment in late-onset acid maltase defi ciency. Eur J
Pediatr, 1997. 156(Suppl 1): p. S39-42.
132. Finegold, D.N. and I. Bergman, High-protein feeding in an infant with Pompe’s disease. Neurology, 1988.
38(5): p. 824-5.
133. Slonim, A.E., et al., Improvement of muscle function in acid maltase defi ciency by high-protein therapy.
Neurology, 1983. 33(1): p. 34-38.
134. Amalfi tano, A., et al., Systemic correction of the muscle disorder glycogen storage disease type II after hepatic
targeting of a modifi ed adenovirus vector encoding human acid-alpha-glucosidase. Proc Natl Acad Sci U S A,
1999. 96(16): p. 8861-6.
135. Pauly, D.F., et al., Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the
enzyme defi ciency in inherited cardioskeletal myopathy Pompe disease. Hum Gene Ther, 2001. 12(5): p. 527-38.
136. Sun, B., et al., Long-term correction of glycogen storage disease type II with a hybrid Ad-AAV vector. Mol Ther,
2003. 7(2): p. 193-201.
137. McVie-Wylie, A.J., et al., Multiple muscles in the AMD quail can be “cross-corrected” of pathologic glycogen
accumulation after intravenous injection of an [E1-, polymerase-] adenovirus vector encoding human acidalpha-glucosidase.
J Gene Med, 2003. 5(5): p. 399-406.
138. Fraites, T.J., Jr., et al., Correction of the Enzymatic and Functional Defi cits in a Model of Pompe Disease Using
Adeno-associated Virus Vectors. Mol Ther, 2002. 5(5 Pt 1): p. 571-8.
139. 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, 1991. 87(2): p. 513-8.
140. Fuller, M., et al., Isolation and characterisation of a recombinant, precursor form of lysosomal acid alphaglucosidase.
Eur J Biochem, 1995. 234(3): p. 903-9.
141. Van Hove, J.L., 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 fi broblasts
from patients with Pompe disease. Proc Natl Acad Sci U S A, 1996. 93(1): p. 65-70.
142. Kikuchi, T., et al., Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltasedefi
cient quail. J. Clin. Invest., 1998. 101(4): p. 827-833.
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