-
1
-
-
34548611613
-
Glycogen storage disease type II: Clinical overview
-
Di Rocco M, Buzzi D, Taro M. Glycogen storage disease type II: clinical overview. Acta Myol. 2007;26(1):42-44.
-
(2007)
Acta Myol
, vol.26
, Issue.1
, pp. 42-44
-
-
Di Rocco, M.1
Buzzi, D.2
Taro, M.3
-
2
-
-
33846652453
-
Acid alpha-glucosidase deficiency (Pompe disease)
-
Fukuda T, Roberts A, Plotz PH, Raben N. Acid alpha-glucosidase deficiency (Pompe disease). Curr Neurol Neurosci Rep. 2007;7(1):71-77.
-
(2007)
Curr Neurol Neurosci Rep
, vol.7
, Issue.1
, pp. 71-77
-
-
Fukuda, T.1
Roberts, A.2
Plotz, P.H.3
Raben, N.4
-
3
-
-
33745589302
-
Pompe disease diagnosis and management guideline
-
Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267-288.
-
(2006)
Genet Med
, vol.8
, Issue.5
, pp. 267-288
-
-
Kishnani, P.S.1
Steiner, R.D.2
Bali, D.3
-
4
-
-
0000995321
-
Glycogen storage disease type II: Acid alpha glucosidase (acid maltase) deficiency
-
Scriver, editor. New York: McGraw-Hill
-
Hirschorn R, Reuser A. Glycogen storage disease type II: acid alpha glucosidase (acid maltase) deficiency. In: Scriver, editor. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001:3389-3420.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3389-3420
-
-
Hirschorn, R.1
Reuser, A.2
-
5
-
-
84856210938
-
Toward deconstructing the phenotype of late-onset Pompe disease
-
Schuller A, Wenninger S, Strigl-Pill N, Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160C(1):80-88.
-
(2012)
Am J Med Genet C Semin Med Genet
, vol.160 C
, Issue.1
, pp. 80-88
-
-
Schuller, A.1
Wenninger, S.2
Strigl-Pill, N.3
Schoser, B.4
-
6
-
-
84901606437
-
Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation
-
Peric S, Fumic K, Bilic K, Reuser A, Rakocevic Stojanovic V. Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation. Acta Neurol Belg. 2014;114(2):165-166.
-
(2014)
Acta Neurol Belg
, vol.114
, Issue.2
, pp. 165-166
-
-
Peric, S.1
Fumic, K.2
Bilic, K.3
Reuser, A.4
Rakocevic Stojanovic, V.5
-
7
-
-
53949097579
-
Thrombotic complications of a basilar artery aneurysm in a young adult with Pompe disease
-
Refai D, Lev R, Cross DT, Shimony JS, Leonard JR. Thrombotic complications of a basilar artery aneurysm in a young adult with Pompe disease. Surg Neurol. 2008;70(5):518-520.
-
(2008)
Surg Neurol
, vol.70
, Issue.5
, pp. 518-520
-
-
Refai, D.1
Lev, R.2
Cross, D.T.3
Shimony, J.S.4
Leonard, J.R.5
-
8
-
-
79952202659
-
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease
-
Sacconi S, Bocquet JD, Chanalet S, Tanant V, Salviati L, Desnuelle C. Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol. 2010;257(10):1730-1733.
-
(2010)
J Neurol
, vol.257
, Issue.10
, pp. 1730-1733
-
-
Sacconi, S.1
Bocquet, J.D.2
Chanalet, S.3
Tanant, V.4
Salviati, L.5
Desnuelle, C.6
-
9
-
-
0023793308
-
Late-onset acid maltase deficiency associated with intracranial aneurysm
-
Matsuoka Y, Senda Y, Hirayama M, Matsui T, Takahashi A. Late-onset acid maltase deficiency associated with intracranial aneurysm. J Neurol. 1988;235(6):371-373.
-
(1988)
J Neurol
, vol.235
, Issue.6
, pp. 371-373
-
-
Matsuoka, Y.1
Senda, Y.2
Hirayama, M.3
Matsui, T.4
Takahashi, A.5
-
10
-
-
0025044667
-
Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency
-
Kretzschmar HA, Wagner H, Hubner G, Danek A, Witt TN, Mehraein P. Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency. J Neurol Sci. 1990;98(2-3):169-183.
-
(1990)
J Neurol Sci
, vol.98
, Issue.2-3
, pp. 169-183
-
-
Kretzschmar, H.A.1
Wagner, H.2
Hubner, G.3
Danek, A.4
Witt, T.N.5
Mehraein, P.6
-
11
-
-
0022353083
-
Adult-onset acid maltase deficiency in siblings
-
Miyamoto Y, Etoh Y, Joh R, Noda K, Ohya I, Morimatsu M. Adult-onset acid maltase deficiency in siblings. Acta Pathol Jpn. 1985;35(6):1533-1542.
-
(1985)
Acta Pathol Jpn
, vol.35
, Issue.6
, pp. 1533-1542
-
-
Miyamoto, Y.1
Etoh, Y.2
Joh, R.3
Noda, K.4
Ohya, I.5
Morimatsu, M.6
-
12
-
-
0023226402
-
Alpha-glucosidase deficiency and basilar artery aneurysm: Report of a sibship
-
Makos MM, McComb RD, Hart MN, Bennett DR. Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship. Ann Neurol. 1987;22(5):629-633.
-
(1987)
Ann Neurol
, vol.22
, Issue.5
, pp. 629-633
-
-
Makos, M.M.1
McComb, R.D.2
Hart, M.N.3
Bennett, D.R.4
-
13
-
-
0032834144
-
Pathological features of glycogen storage disease type II highlighted in the knockout mouse model
-
Bijvoet AG, Van Hirtum H, Vermey M, et al. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol. 1999;189(3):416-424.
-
(1999)
J Pathol
, vol.189
, Issue.3
, pp. 416-424
-
-
Bijvoet, A.G.1
Van Hirtum, H.2
Vermey, M.3
-
14
-
-
34548621869
-
Deconstructing Pompe disease by analyzing single muscle fibers: To see a world in a grain of sand
-
Raben N, Takikita S, Pittis MG, et al. Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand. Autophagy. 2007;3(6):546-552.
-
(2007)
Autophagy
, vol.3
, Issue.6
, pp. 546-552
-
-
Raben, N.1
Takikita, S.2
Pittis, M.G.3
-
15
-
-
84866082112
-
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)
-
Nascimbeni AC, Fanin M, Masiero E, Angelini C, Sandri M. The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII). Cell Death Differ. 2012;19(10):1698-1708.
-
(2012)
Cell Death Differ
, vol.19
, Issue.10
, pp. 1698-1708
-
-
Nascimbeni, A.C.1
Fanin, M.2
Masiero, E.3
Angelini, C.4
Sandri, M.5
-
16
-
-
0023489807
-
Fusiform aneurysm of basilar artery and ectatic internal carotid arteries associated with glycogenosis type2 (Pompe's disease)
-
Braunsdorf WE. Fusiform aneurysm of basilar artery and ectatic internal carotid arteries associated with glycogenosis type2 (Pompe's disease). Neurosurgery. 1987;21(5):748-749.
-
(1987)
Neurosurgery
, vol.21
, Issue.5
, pp. 748-749
-
-
Braunsdorf, W.E.1
-
17
-
-
47049095911
-
Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease
-
Laforet P, Petiot P, Nicolino M, et al. Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology. 2008;70(22):2063-2066.
-
(2008)
Neurology
, vol.70
, Issue.22
, pp. 2063-2066
-
-
Laforet, P.1
Petiot, P.2
Nicolino, M.3
|