-
1
-
-
34250661859
-
Glycogen storage diseases: New perspectives
-
Ozen H. Glycogen storage diseases: New perspectives. World J Gastroenterol. 2007;13(18):2541-2553.
-
(2007)
World J Gastroenterol
, vol.13
, Issue.18
, pp. 2541-2553
-
-
Ozen, H.1
-
2
-
-
0031751198
-
Glycogen storage disease of muscle
-
DiMauro S, Bruno C. Glycogen storage disease of muscle. Curr Opin Neurol Neurosurg. 1998;11(5):477-484.
-
(1998)
Curr Opin Neurol Neurosurg
, vol.11
, Issue.5
, pp. 477-484
-
-
DiMauro, S.1
Bruno, C.2
-
4
-
-
0032794475
-
Glycogen storage disease: Phenotypic, genetic, and biochemical characteristics, and therapy
-
Wolsdorf JI, Holm IA, Weinstein DA. Glycogen storage disease: Phenotypic, genetic, and biochemical characteristics, and therapy. Endocrinol Metab Clin. 1999;28(4):802-824.
-
(1999)
Endocrinol Metab Clin
, vol.28
, Issue.4
, pp. 802-824
-
-
Wolsdorf, J.I.1
Holm, I.A.2
Weinstein, D.A.3
-
5
-
-
0032057337
-
Histopathologic approach to metabolic liver disease: Part 1
-
Jevon GP, Dimmick JE. Histopathologic approach to metabolic liver disease: Part 1. Pediatr Dev Pathol. 1998;1:179-199.
-
(1998)
Pediatr Dev Pathol
, vol.1
, pp. 179-199
-
-
Jevon, G.P.1
Dimmick, J.E.2
-
6
-
-
77958117854
-
Biopsy diagnosis of inherited liver disease
-
Roy A, Finegold MJ. Biopsy diagnosis of inherited liver disease. Surg Pathol Clin. 2010;3:743-768.
-
Surg Pathol Clin
, vol.2010
, Issue.3
, pp. 743-768
-
-
Roy, A.1
Finegold, M.J.2
-
7
-
-
33947641013
-
Glycogen storage disease types I and II: Treatment updates
-
Koeberl DD, Kishnani PS, Chen YT. Glycogen storage disease types I and II: Treatment updates. J Inherit Metab Dis. 2007;30:159-164.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 159-164
-
-
Koeberl, D.D.1
Kishnani, P.S.2
Chen, Y.T.3
-
8
-
-
0034976967
-
Molecular genetics of type I glycogen storage disease
-
Janecke AR, Mayatepek E, Utermann G. Molecular genetics of type I glycogen storage disease. Mol Genet Metab. 2001;73:117-125.
-
(2001)
Mol Genet Metab
, vol.73
, pp. 117-125
-
-
Janecke, A.R.1
Mayatepek, E.2
Utermann, G.3
-
9
-
-
0036086034
-
Type I glycogen storage disease: Disorders of the glucose-6-phosphatase complex
-
Chou JY, Matern D, Mansfield BC, Chen Y-T. Type I glycogen storage disease: Disorders of the glucose-6-phosphatase complex. Curr Mol Med. 2002;2:121-143.
-
(2002)
Curr Mol Med
, vol.2
, pp. 121-143
-
-
Chou, J.Y.1
Matern, D.2
Mansfield, B.C.3
Chen, Y.-T.4
-
10
-
-
0035296492
-
The molecular basis of type I glycogen storage diseases
-
Chou JY. The molecular basis of type I glycogen storage diseases. Curr Mol Med. 2001;1:25-44.
-
(2001)
Curr Mol Med
, vol.1
, pp. 25-44
-
-
Chou, J.Y.1
-
12
-
-
0034777806
-
Inflammatory bowel disease-like colitis in glycogen storage disease type 1b
-
Yamaguchi T, Ihara K, Matsumoto T, et al. Inflammatory bowel disease-like colitis in glycogen storage disease type 1b. Inflammatory Bowel Dis. 2001;7(2):128-132.
-
(2001)
Inflammatory Bowel Dis
, vol.7
, Issue.2
, pp. 128-132
-
-
Yamaguchi, T.1
Ihara, K.2
Matsumoto, T.3
-
13
-
-
0032173247
-
A case of glycogen storage disease type 1a with multiple hepatic adenomas and G72T mutation in glucose-6-phosphatase gene, and a comparison with other mutations previously reported
-
Karasawa Y, Kobayashi M, Nakano Y, et al. A case of glycogen storage disease type 1a with multiple hepatic adenomas and G72T mutation in glucose-6-phosphatase gene, and a comparison with other mutations previously reported. Am J Gastroenterol. 1998;93(9):1550-1553.
-
(1998)
Am J Gastroenterol
, vol.93
, Issue.9
, pp. 1550-1553
-
-
Karasawa, Y.1
Kobayashi, M.2
Nakano, Y.3
-
14
-
-
0033854880
-
Approach to gene therapy of glycogenosis type II (Pompe disease
-
Poenaru L. Approach to gene therapy of glycogenosis type II (Pompe disease). Mol Genet Metab. 2000;70:163-169.
-
(2000)
Mol Genet Metab
, vol.70
, pp. 163-169
-
-
Poenaru, L.1
-
15
-
-
2342537868
-
Pompe disease in infants and children
-
Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr. 2004;144:S35-S43.
-
(2004)
J Pediatr
, vol.144
-
-
Kishnani, P.S.1
Howell, R.R.2
-
16
-
-
0042131675
-
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
-
Van den Hout HMP, Hop W, van Diggelens OP, et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003;112(2):332-340.
-
(2003)
Pediatrics
, vol.112
, Issue.2
, pp. 332-340
-
-
Van Den Hout, H.M.P.1
Hop, W.2
Van Diggelens, O.P.3
-
17
-
-
12344325056
-
High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology
-
Lynch CM, Johnson J, Vaccaro C, Thurberg BL. High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology. J Histochem Cytochem. 2005;53(1):63-73.
-
(2005)
J Histochem Cytochem
, vol.53
, Issue.1
, pp. 63-73
-
-
Lynch, C.M.1
Johnson, J.2
Vaccaro, C.3
Thurberg, B.L.4
-
18
-
-
17644424616
-
Prenatal diagnosis of Pompe disease by electron microscopy
-
Phupong V, Shuangshoti S, Sutthiruangwong P, Maneesri S, Nuayboonma P, Shotelersuk V. Prenatal diagnosis of Pompe disease by electron microscopy. Arch Gynecol Obstet. 2005;271:259-261.
-
(2005)
Arch Gynecol Obstet
, vol.271
, pp. 259-261
-
-
Phupong, V.1
Shuangshoti, S.2
Sutthiruangwong, P.3
Maneesri, S.4
Nuayboonma, P.5
Shotelersuk, V.6
-
19
-
-
34250869118
-
Adult-onset glycogen storage disease type 2: Clinico-pathological phenotype revisited
-
Schoser BGH, Muller-Hockert J, Horvath R, et al. Adult-onset glycogen storage disease type 2: Clinico-pathological phenotype revisited. Neuropathol Appl Neurobiol. 2007:33:544-559.
-
(2007)
Neuropathol Appl Neurobiol
, vol.33
, pp. 544-559
-
-
Schoser, B.G.H.1
Muller-Hockert, J.2
Horvath, R.3
-
20
-
-
19944383100
-
Replacing acid alphaglucosidase in Pompe disease: Recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers
-
Raben N, Fukuda T, Gilbert AL, et al. Replacing acid alphaglucosidase in Pompe disease: Recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther. 2005;11(1):48-56.
-
(2005)
Mol Ther
, vol.11
, Issue.1
, pp. 48-56
-
-
Raben, N.1
Fukuda, T.2
Gilbert, A.L.3
-
21
-
-
33751211826
-
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease
-
Thurberg BL, Maloney CL, Vaccaro C, et al. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest. 2006;86:1208-1220.
-
(2006)
Lab Invest
, vol.86
, pp. 1208-1220
-
-
Thurberg, B.L.1
Maloney, C.L.2
Vaccaro, C.3
-
22
-
-
0038546958
-
Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy
-
Winkel LPF, Kamphoven JHJ, van den Hout HJMP, 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, H.J.M.P.3
-
23
-
-
0031689337
-
Adenovirusmediated transfer of the acid-alpha-glucosidase gene into fibroblasts, myoblasts and myotubules from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation
-
Nicolino MP, Peuch J-P, Kremer EJ, et al. Adenovirusmediated transfer of the acid-alpha-glucosidase gene into fibroblasts, myoblasts and myotubules from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation. Hum Mol Genet. 1998;7(11):1695-1702.
-
(1998)
Hum Mol Genet
, vol.7
, Issue.11
, pp. 1695-1702
-
-
Nicolino, M.P.1
Peuch, J.-P.2
Kremer, E.J.3
-
24
-
-
33846617279
-
Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?
-
Demo E, Frush D, Gottfried M, et al. Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? J Hepatol. 2007;46:492-498.
-
(2007)
J Hepatol
, vol.46
, pp. 492-498
-
-
Demo, E.1
Frush, D.2
Gottfried, M.3
-
25
-
-
0036082990
-
The variable presentations of glycogen storage disease type IV: A review of clinical, enzymatic and molecular studies
-
Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: A review of clinical, enzymatic and molecular studies. Curr Mol Med. 2002;177-188.
-
(2002)
Curr Mol Med
, pp. 177-188
-
-
Moses, S.W.1
Parvari, R.2
-
27
-
-
0035954365
-
Surprises of genetic engineering: A possible model of polyglucosan body disease
-
Raben N, Dannon M, Lu N, et al. Surprises of genetic engineering: A possible model of polyglucosan body disease. Neurology. 2001;56:1739-1745.
-
(2001)
Neurology
, vol.56
, pp. 1739-1745
-
-
Raben, N.1
Dannon, M.2
Lu, N.3
-
28
-
-
34147104428
-
Electron microscopy of chorionic villus samples for prenatal diagnosis of lysosomal storage disorders
-
Fowler DJ, Anderson G, Vellodi A, Malone M, Sebire NJ. Electron microscopy of chorionic villus samples for prenatal diagnosis of lysosomal storage disorders. Ultrastruct Pathol. 2007;31:15-21.
-
(2007)
Ultrastruct Pathol
, vol.31
, pp. 15-21
-
-
Fowler, D.J.1
Anderson, G.2
Vellodi, A.3
Malone, M.4
Sebire, N.J.5
-
30
-
-
0042324904
-
Glycogenosis type V or McArdle's disease
-
Gordon N. Glycogenosis type V or McArdle's disease. Dev Med Child Neurol. 2003;45:640-644.
-
(2003)
Dev Med Child Neurol
, vol.45
, pp. 640-644
-
-
Gordon, N.1
-
31
-
-
0036083007
-
Phosphofructokinase deficiency: Past, present and future
-
Nakajima H, Raben N, Hamaguchi T, Yamasaki T. Phosphofructokinase deficiency: Past, present and future. Curr Mol Med. 2002;2:197-212.
-
(2002)
Curr Mol Med
, vol.2
, pp. 197-212
-
-
Nakajima, H.1
Raben, N.2
Hamaguchi, T.3
Yamasaki, T.4
-
32
-
-
4544254425
-
Gene therapy for lysosomal storage diseases: The lessons and promise of animal models
-
Ellinwood NM, Vite CH, Haskins ME. Gene therapy for lysosomal storage diseases: The lessons and promise of animal models. J Gene Med. 2004:6:481-506.
-
(2004)
J Gene Med
, vol.6
, pp. 481-506
-
-
Ellinwood, N.M.1
Vite, C.H.2
Haskins, M.E.3
-
33
-
-
33745108529
-
Principles of therapeutic liver repopulation
-
Grompe M. Principles of therapeutic liver repopulation. J Inherit Metab Dis. 2006;29:421-425.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 421-425
-
-
Grompe, M.1
-
35
-
-
33745084945
-
Hepatocyte transplantation for liver-based metabolic disorders
-
Dhawan A, Mitry RR, Hughes RD. Hepatocyte transplantation for liver-based metabolic disorders. J Inherit Metab Dis. 2006;29:431-435.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 431-435
-
-
Dhawan, A.1
Mitry, R.R.2
Hughes, R.D.3
-
36
-
-
33745088113
-
Liver transplantation for inborn errors of liver metabolism
-
Sokal E. Liver transplantation for inborn errors of liver metabolism. J Inherit Metab Dis. 2006;29:426-430.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 426-430
-
-
Sokal, E.1
-
37
-
-
0036114383
-
Prenatal diagnosis of glycogen storage disease
-
Chen YT, Bali D, Sullivan J. Prenatal diagnosis of glycogen storage disease. Prenat Diagn. 2001;22:357-359.
-
(2001)
Prenat Diagn
, vol.22
, pp. 357-359
-
-
Chen, Y.T.1
Bali, D.2
Sullivan, J.3
|