-
1
-
-
0036082990
-
The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies
-
Moses, S.W. and Parvari, R. (2002) The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr. Mol. Med., 2, 177-188.
-
(2002)
Curr. Mol. Med.
, vol.2
, pp. 177-188
-
-
Moses, S.W.1
Parvari, R.2
-
2
-
-
0013934669
-
Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis
-
Brown, B.I. and Brown, D.H. (1966) Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. Proc. Natl Acad. Sci. USA, 56, 725-729.
-
(1966)
Proc. Natl Acad. Sci. USA
, vol.56
, pp. 725-729
-
-
Brown, B.I.1
Brown, D.H.2
-
3
-
-
0024513084
-
Disorders of glycogen metabolism of muscle
-
Servidei, S. and DiMauro, S. (1989) Disorders of glycogen metabolism of muscle. Neurol. Clin., 7, 159-178.
-
(1989)
Neurol. Clin.
, vol.7
, pp. 159-178
-
-
Servidei, S.1
DiMauro, S.2
-
4
-
-
33645846649
-
Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family
-
L'Hermine-Coulomb, A., Beuzen, F., Bouvier, R., Rolland, M.O., Froissart, R., Menez, F., Audibert, F. and Labrune, P. (2005) Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family. Am. J. Med. Genet. A, 139A, 118-122.
-
(2005)
Am. J. Med. Genet. A
, vol.139 A
, pp. 118-122
-
-
L'Hermine-Coulomb, A.1
Beuzen, F.2
Bouvier, R.3
Rolland, M.O.4
Froissart, R.5
Menez, F.6
Audibert, F.7
Labrune, P.8
-
5
-
-
0033543480
-
Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis
-
Cox, P.M., Brueton, L.A., Murphy, K.W., Worthington, V.C., Bjelogrlic, P., Lazda, E.J., Sabire, N.J. and Sewry, C.A. (1999) Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis. Am. J. Med. Genet., 86, 187-193.
-
(1999)
Am. J. Med. Genet.
, vol.86
, pp. 187-193
-
-
Cox, P.M.1
Brueton, L.A.2
Murphy, K.W.3
Worthington, V.C.4
Bjelogrlic, P.5
Lazda, E.J.6
Sabire, N.J.7
Sewry, C.A.8
-
6
-
-
0027323328
-
A congenital variant of glycogenosis type IV
-
van Noort, G., Straks, W., Van Diggelen, O.P. and Hennekam, R.C. (1993) A congenital variant of glycogenosis type IV. Pediatr. Pathol., 13, 685-698.
-
(1993)
Pediatr. Pathol.
, vol.13
, pp. 685-698
-
-
van Noort, G.1
Straks, W.2
Van Diggelen, O.P.3
Hennekam, R.C.4
-
7
-
-
0028355298
-
Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis
-
Tang, T.T., Segura, A.D., Chen, Y.T., Ricci, L.M., Franciosi, R.A., Splaingard, M.L. and Lubinsky, M.S. (1994) Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol., 87, 531-536.
-
(1994)
Acta Neuropathol.
, vol.87
, pp. 531-536
-
-
Tang, T.T.1
Segura, A.D.2
Chen, Y.T.3
Ricci, L.M.4
Franciosi, R.A.5
Splaingard, M.L.6
Lubinsky, M.S.7
-
8
-
-
0028222681
-
Concomitant branching enzyme and phosphorylase deficiencies. An unusual glycogenosis with extensive neuronal polyglucosan storage
-
Herrick, M.K., Twiss, J.L., Vladutiu, G.D., Glasscock, G.F. and Horoupian, D.S. (1994) Concomitant branching enzyme and phosphorylase deficiencies. An unusual glycogenosis with extensive neuronal polyglucosan storage. J. Neuropathol. Exp. Neurol., 53, 239-246.
-
(1994)
J. Neuropathol. Exp. Neurol.
, vol.53
, pp. 239-246
-
-
Herrick, M.K.1
Twiss, J.L.2
Vladutiu, G.D.3
Glasscock, G.F.4
Horoupian, D.S.5
-
9
-
-
0026600156
-
A mild juvenile variant of type IV glycogenosis
-
Reusche, E., Aksu, F., Goebel, H.H., Shin, Y.S., Yokota, T. and Reichmann, H. (1992) A mild juvenile variant of type IV glycogenosis. Brain Dev., 14, 36-43.
-
(1992)
Brain Dev.
, vol.14
, pp. 36-43
-
-
Reusche, E.1
Aksu, F.2
Goebel, H.H.3
Shin, Y.S.4
Yokota, T.5
Reichmann, H.6
-
10
-
-
0027419866
-
Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis)
-
Schroder, J.M., May, R., Shin, Y.S., Sigmund, M. and Nase-Huppmeier, S. (1993) Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). Acta Neuropathol., 85, 419-430.
-
(1993)
Acta Neuropathol.
, vol.85
, pp. 419-430
-
-
Schroder, J.M.1
May, R.2
Shin, Y.S.3
Sigmund, M.4
Nase-Huppmeier, S.5
-
11
-
-
0025946765
-
Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients
-
Lossos, A., Barash, V., Soffer, D., Argov, Z., Gomori, M., Ben-Nariah, Z., Abramsky, O. and Steiner, I. (1991) Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann. Neurol., 30, 655-662.
-
(1991)
Ann. Neurol.
, vol.30
, pp. 655-662
-
-
Lossos, A.1
Barash, V.2
Soffer, D.3
Argov, Z.4
Gomori, M.5
Ben-Nariah, Z.6
Abramsky, O.7
Steiner, I.8
-
12
-
-
0027533038
-
Glycogen branching enzyme deficiency in adult polyglucosan body disease
-
Bruno, C., Servidei, S., Shanske, S., Karpati, G., Carpenter, S., McKee, D., Barohn, R.J., Hirano, M., Rifai, Z. and DiMauro, S. (1993) Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann. Neurol., 33, 88-93.
-
(1993)
Ann. Neurol.
, vol.33
, pp. 88-93
-
-
Bruno, C.1
Servidei, S.2
Shanske, S.3
Karpati, G.4
Carpenter, S.5
McKee, D.6
Barohn, R.J.7
Hirano, M.8
Rifai, Z.9
DiMauro, S.10
-
13
-
-
0030032758
-
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene
-
Bao, Y., Kishnani, P., Wu, J.Y. and Chen, Y.T. (1996) Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J. Clin. Invest., 97, 941-948.
-
(1996)
J. Clin. Invest.
, vol.97
, pp. 941-948
-
-
Bao, Y.1
Kishnani, P.2
Wu, J.Y.3
Chen, Y.T.4
-
14
-
-
0035516320
-
Glycogen branching enzyme deficiency in quarter horse foals
-
Valberg, S.J., Ward, T.L., Rush, B., Kinde, H., Hiraragi, H., Nahey, D., Fyfe, J. and Mickelson, J.R. (2001) Glycogen branching enzyme deficiency in quarter horse foals. J. Vet. Intern. Med., 15, 572-580.
-
(2001)
J. Vet. Intern. Med.
, vol.15
, pp. 572-580
-
-
Valberg, S.J.1
Ward, T.L.2
Rush, B.3
Kinde, H.4
Hiraragi, H.5
Nahey, D.6
Fyfe, J.7
Mickelson, J.R.8
-
15
-
-
33947589436
-
A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats
-
Fyfe, J.C., Kurzhals, R.L., Hawkins, M.G., Wang, P., Yuhki, N., Giger, U., Van Winkle, T.J., Haskins, M.E., Patterson, D.F. and Henthorn, P.S. (2007) A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. Mol. Genet. Metab., 90, 383-392.
-
(2007)
Mol. Genet. Metab.
, vol.90
, pp. 383-392
-
-
Fyfe, J.C.1
Kurzhals, R.L.2
Hawkins, M.G.3
Wang, P.4
Yuhki, N.5
Giger, U.6
Van Winkle, T.J.7
Haskins, M.E.8
Patterson, D.F.9
Henthorn, P.S.10
-
16
-
-
4644372268
-
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
-
Bruno, C., van Diggelen, O.P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M.A., Introvini, P., Alegria, A., Assereto, S., Morandi, L. et al. (2004) Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology, 63, 1053-1058.
-
(2004)
Neurology
, vol.63
, pp. 1053-1058
-
-
Bruno, C.1
van Diggelen, O.P.2
Cassandrini, D.3
Gimpelev, M.4
Giuffre, B.5
Donati, M.A.6
Introvini, P.7
Alegria, A.8
Assereto, S.9
Morandi, L.10
-
17
-
-
27644512860
-
Efficient and fast targeted production of murine models based on ENU mutagenesis
-
Augustin, M., Sedlmeier, R., Peters, T., Huffstadt, U., Kochmann, E., Simon, D., Schoniger, M., Garke-Mayerthaler, S., Laufs, J., Mayhaus, M. et al. (2005) Efficient and fast targeted production of murine models based on ENU mutagenesis. Mamm. Genome, 16, 405-413.
-
(2005)
Mamm. Genome
, vol.16
, pp. 405-413
-
-
Augustin, M.1
Sedlmeier, R.2
Peters, T.3
Huffstadt, U.4
Kochmann, E.5
Simon, D.6
Schoniger, M.7
Garke-Mayerthaler, S.8
Laufs, J.9
Mayhaus, M.10
-
18
-
-
11144357335
-
Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block
-
Pashmforoush, M., Lu, J.T., Chen, H., Amand, T.S., Kondo, R., Pradervand, S., Evans, S.M., Clark, B., Feramisco, J.R., Giles, W. et al. (2004) Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block. Cell, 117, 373-386.
-
(2004)
Cell
, vol.117
, pp. 373-386
-
-
Pashmforoush, M.1
Lu, J.T.2
Chen, H.3
Amand, T.S.4
Kondo, R.5
Pradervand, S.6
Evans, S.M.7
Clark, B.8
Feramisco, J.R.9
Giles, W.10
-
19
-
-
67349188064
-
Analysis of ventricular hypertrabeculation and noncompaction using genetically engineered mouse models
-
Chen, H., Zhang, W., Li, D., Cordes, T.M., Mark Payne, R. and Shou, W. (2009) Analysis of ventricular hypertrabeculation and noncompaction using genetically engineered mouse models. Pediatr. Cardiol., 30, 626-634.
-
(2009)
Pediatr. Cardiol.
, vol.30
, pp. 626-634
-
-
Chen, H.1
Zhang, W.2
Li, D.3
Cordes, T.M.4
Mark Payne, R.5
Shou, W.6
-
20
-
-
55849135237
-
Deletion of GSK-3beta in mice leads to hypertrophic cardiomyopathy secondary to cardiomyoblast hyperproliferation
-
Kerkela, R., Kockeritz, L., Macaulay, K., Zhou, J., Doble, B.W., Beahm, C., Greytak, S., Woulfe, K., Trivedi, C.M., Woodgett, J.R. et al. (2008) Deletion of GSK-3beta in mice leads to hypertrophic cardiomyopathy secondary to cardiomyoblast hyperproliferation. J. Clin. Invest., 118, 3609-3618.
-
(2008)
J. Clin. Invest.
, vol.118
, pp. 3609-3618
-
-
Kerkela, R.1
Kockeritz, L.2
Macaulay, K.3
Zhou, J.4
Doble, B.W.5
Beahm, C.6
Greytak, S.7
Woulfe, K.8
Trivedi, C.M.9
Woodgett, J.R.10
-
21
-
-
0032996697
-
Glycogen storage disease type IV presenting as hydrops fetalis
-
Alegria, A., Martins, E., Dias, M., Cunha, A., Cardoso, M.L. and Maire, I. (1999) Glycogen storage disease type IV presenting as hydrops fetalis. J. Inherit. Metab. Dis., 22, 330-332.
-
(1999)
J. Inherit. Metab. Dis.
, vol.22
, pp. 330-332
-
-
Alegria, A.1
Martins, E.2
Dias, M.3
Cunha, A.4
Cardoso, M.L.5
Maire, I.6
-
22
-
-
0042123994
-
A neonatal form of glycogen storage disease type IV
-
Nambu, M., Kawabe, K., Fukuda, T., Okuno, T.B., Ohta, S., Nonaka, I., Sugie, H. and Nishino, I. (2003) A neonatal form of glycogen storage disease type IV. Neurology, 61, 392-394.
-
(2003)
Neurology
, vol.61
, pp. 392-394
-
-
Nambu, M.1
Kawabe, K.2
Fukuda, T.3
Okuno, T.B.4
Ohta, S.5
Nonaka, I.6
Sugie, H.7
Nishino, I.8
-
24
-
-
0020744248
-
Ontogeny of some enzymes of glycogen metabolism in rabbit fetal heart, lungs, and liver
-
Bhavnani, B.R. (1983) Ontogeny of some enzymes of glycogen metabolism in rabbit fetal heart, lungs, and liver. Can. J. Biochem. Cell Biol., 61, 191-197.
-
(1983)
Can. J. Biochem. Cell Biol.
, vol.61
, pp. 191-197
-
-
Bhavnani, B.R.1
-
25
-
-
84944495198
-
The importance of cardiac glycogen for the maintenance of life in foetal lambs and newborn animals during anoxia
-
Dawes, G.S., Mott, J.C. and Shelley, H.J. (1959) The importance of cardiac glycogen for the maintenance of life in foetal lambs and newborn animals during anoxia. J. Physiol., 146, 516-538.
-
(1959)
J. Physiol.
, vol.146
, pp. 516-538
-
-
Dawes, G.S.1
Mott, J.C.2
Shelley, H.J.3
-
26
-
-
0025847365
-
Glycogen and enzymes of glycogen metabolism in rat embryos and fetal organs
-
Gutierrez-Correa, J., Hod, M., Passoneau, J.V. and Freinkel, N. (1991) Glycogen and enzymes of glycogen metabolism in rat embryos and fetal organs. Biol. Neonate, 59, 294-302.
-
(1991)
Biol. Neonate
, vol.59
, pp. 294-302
-
-
Gutierrez-Correa, J.1
Hod, M.2
Passoneau, J.V.3
Freinkel, N.4
-
27
-
-
3543028031
-
Abnormal cardiac development in the absence of heart glycogen
-
Pederson, B.A., Chen, H., Schroeder, J.M., Shou, W., DePaoli-Roach, A.A. and Roach, P.J. (2004) Abnormal cardiac development in the absence of heart glycogen. Mol. Cell Biol., 24, 7179-7187.
-
(2004)
Mol. Cell Biol.
, vol.24
, pp. 7179-7187
-
-
Pederson, B.A.1
Chen, H.2
Schroeder, J.M.3
Shou, W.4
DePaoli-Roach, A.A.5
Roach, P.J.6
-
28
-
-
0021154239
-
Isozymes of glycogen synthase
-
Kaslow, H.R. and Lesikar, D.D. (1984) Isozymes of glycogen synthase. FEBS Lett., 172, 294-298.
-
(1984)
FEBS Lett.
, vol.172
, pp. 294-298
-
-
Kaslow, H.R.1
Lesikar, D.D.2
|