-
1
-
-
0000995321
-
The Metabolic and Molecular Bases of Inherited Diseases, 8th ed
-
New York, McGraw-Hill
-
Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL, Valle D, Sly WS, eds. The Metabolic and Molecular Bases of Inherited Diseases, 8th ed. New York: McGraw-Hill, 2001: 3389-3420.
-
(2001)
, pp. 3389-3420
-
-
Hirschhorn, R.1
Reuser, A.J.J.2
-
2
-
-
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;35:1533-1542.
-
(1985)
Acta Pathol Jpn
, vol.35
, pp. 1533-1542
-
-
Miyamoto, Y.1
Etoh, Y.2
Joh, R.3
Noda, K.4
Ohya, I.5
Morimatsu, M.6
-
3
-
-
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;22:629-633.
-
(1987)
Ann Neurol
, vol.22
, pp. 629-633
-
-
Makos, M.M.1
McComb, R.D.2
Hart, M.N.3
Bennett, D.R.4
-
4
-
-
0023489807
-
Fusiform aneurysm of basilar artery and ectatic internal carotid arteries associated with glycogenosis type 2 (Pompe’s disease)
-
Braunsdorf WE. Fusiform aneurysm of basilar artery and ectatic internal carotid arteries associated with glycogenosis type 2 (Pompe’s disease). Neurosurgery 1987;21:748-749.
-
(1987)
Neurosurgery
, vol.21
, pp. 748-749
-
-
Braunsdorf, W.E.1
-
5
-
-
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;235:371-373.
-
(1988)
J Neurol
, vol.235
, pp. 371-373
-
-
Matsuoka, Y.1
Senda, Y.2
Hirayama, M.3
Matsui, T.4
Takahashi, A.5
-
6
-
-
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;98:169-183.
-
(1990)
J Neurol Sci
, vol.98
, pp. 169-183
-
-
Kretzschmar, H.A.1
Wagner, H.2
Hubner, G.3
Danek, A.4
Witt, T.N.5
Mehraein, P.6
-
7
-
-
12544260681
-
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype
-
Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. Neurology 2005;64:368-370.
-
(2005)
Neurology
, vol.64
, pp. 368-370
-
-
Anneser, J.M.1
Pongratz, D.E.2
Podskarbi, T.3
Shin, Y.S.4
Schoser, B.G.5
-
8
-
-
33846033132
-
Recombinant human acid α-glucosidase: major clinical benefits in patients with infantile-onset Pompe disease
-
Kishnani P, Corzo D, Nicolino M, et al. Recombinant human acid α-glucosidase: major clinical benefits in patients with infantile-onset Pompe disease. Neurology 2007;68:99-109.
-
(2007)
Neurology
, vol.68
, pp. 99-109
-
-
Kishnani, P.1
Corzo, D.2
Nicolino, M.3
-
9
-
-
34347328229
-
Increased aortic stiffness in glycogenosis type 2 (Pompe’s disease)
-
Nemes A, Soliman OII, Geleijnse ML, et al. Increased aortic stiffness in glycogenosis type 2 (Pompe’s disease). Int J Cardiol 2007;120:138-141.
-
(2007)
Int J Cardiol
, vol.120
, pp. 138-141
-
-
Nemes, A.1
Soliman, O.I.I.2
Geleijnse, M.L.3
-
10
-
-
24344440871
-
Megadolichobasilar anomaly with thrombosis in a family with Fabry’s disease and a novel mutation in the alpha-galactosidase A gene
-
Garzuly F, Marodi L, Erdos M, et al. Megadolichobasilar anomaly with thrombosis in a family with Fabry’s disease and a novel mutation in the alpha-galactosidase A gene. Brain 2005;128(pt 9):2078-2083.
-
(2005)
Brain
, vol.128
, Issue.pt 9
, pp. 2078-2083
-
-
Garzuly, F.1
Marodi, L.2
Erdos, M.3
|