-
1
-
-
0013877482
-
A histochemical and electron microscopic study of skeletal muscle in a case of Pompe's disease (glycogenosis II)
-
Cardiff RD. A histochemical and electron microscopic study of skeletal muscle in a case of Pompe's disease (glycogenosis II). Pediatrics 1966; 37: 249-259.
-
(1966)
Pediatrics
, vol.37
, pp. 249-259
-
-
Cardiff, R.D.1
-
2
-
-
34948909145
-
Abnormal chaperone-mediated autophagy (CMA) in cardiomyocytes of a boy with Danon disease
-
Fidziańska A, Walczak E, Walski M. Abnormal chaperone-mediated autophagy (CMA) in cardiomyocytes of a boy with Danon disease. Folia Neuropathol 2007; 45: 133-139.
-
(2007)
Folia Neuropathol
, vol.45
, pp. 133-139
-
-
Fidziańska, A.1
Walczak, E.2
Walski, M.3
-
3
-
-
33751014016
-
Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe Disease
-
Fukuda T, Ahearn M, Roberts A, Mattaliano RJ, Zaal K, Ralston E, Plotz PH, Raben N. Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe Disease. Mol Ther 2006; 14: 831-839.
-
(2006)
Mol Ther
, vol.14
, pp. 831-839
-
-
Fukuda, T.1
Ahearn, M.2
Roberts, A.3
Mattaliano, R.J.4
Zaal, K.5
Ralston, E.6
Plotz, P.H.7
Raben, N.8
-
4
-
-
33645776188
-
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease
-
Fukuda T, Ewan L, Bauer M, Mattaliano RJ, Zaal K, Ralston E, Plotz PH, Raben N. Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol 2006; 59: 700-708.
-
(2006)
Ann Neurol
, vol.59
, pp. 700-708
-
-
Fukuda, T.1
Ewan, L.2
Bauer, M.3
Mattaliano, R.J.4
Zaal, K.5
Ralston, E.6
Plotz, P.H.7
Raben, N.8
-
5
-
-
36248964186
-
Pompe disease: Current state of treatment modalities and animal models
-
Geel TM, McLaughlin PM, de Leij LF, Ruiters MH, Niezen-Koning KE. Pompe disease: current state of treatment modalities and animal models. Mol Genet Metab 2007; 92: 299-307.
-
(2007)
Mol Genet Metab
, vol.92
, pp. 299-307
-
-
Geel, T.M.1
McLaughlin, P.M.2
de Leij, L.F.3
Ruiters, M.H.4
Niezen-Koning, K.E.5
-
6
-
-
0021347933
-
Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture
-
Griffin JL. Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture. Virchows Arch B Cell Pathol Incl Mol Pathol 1984; 45: 23-36.
-
(1984)
Virchows Arch B Cell Pathol Incl Mol Pathol
, vol.45
, pp. 23-36
-
-
Griffin, J.L.1
-
7
-
-
15044356217
-
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
-
Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, Van der Ploeg AT. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005; 128: 671-677.
-
(2005)
Brain
, vol.128
, pp. 671-677
-
-
Hagemans, M.L.1
Winkel, L.P.2
Van Doorn, P.A.3
Hop, W.J.4
Loonen, M.C.5
Reuser, A.J.6
Van der Ploeg, A.T.7
-
10
-
-
19944383100
-
Replacing acid alpha-glucosidase 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, de Jong D, Thurberg BL, Mattaliano RJ, Meikle P, Hopwood JJ, Nagashima K, Nagaraju K, Plotz PH. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 2005; 11: 48-56.
-
(2005)
Mol Ther
, vol.11
, pp. 48-56
-
-
Raben, N.1
Fukuda, T.2
Gilbert, A.L.3
de Jong, D.4
Thurberg, B.L.5
Mattaliano, R.J.6
Meikle, P.7
Hopwood, J.J.8
Nagashima, K.9
Nagaraju, K.10
Plotz, P.H.11
-
11
-
-
0036086765
-
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease)
-
Raben N, Plotz P, Byrne BJ. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med 2002; 2: 145-166.
-
(2002)
Curr Mol Med
, vol.2
, pp. 145-166
-
-
Raben, N.1
Plotz, P.2
Byrne, B.J.3
-
12
-
-
0033844020
-
Mitochondrial activity in Pompe's disease
-
Selak MA, de Chadarevian JP, Melvin JJ, Grover WD, Salganicoff L, Kaye EM. Mitochondrial activity in Pompe's disease. Pediatr Neurol 2000; 23: 54-57.
-
(2000)
Pediatr Neurol
, vol.23
, pp. 54-57
-
-
Selak, M.A.1
de Chadarevian, J.P.2
Melvin, J.J.3
Grover, W.D.4
Salganicoff, L.5
Kaye, E.M.6
-
13
-
-
24344466256
-
Delayed or late-onset type II glycogenosis with globular inclusion
-
Sharma MC, Schultze C, von Moers A, Stoltenburg-Didinger G, Shin YS, Podskarbi T, Isenhardt K, Tews DS, Goebel HH. Delayed or late-onset type II glycogenosis with globular inclusion. Acta Neuropathol 2005; 110: 151-157.
-
(2005)
Acta Neuropathol
, vol.110
, pp. 151-157
-
-
Sharma, M.C.1
Schultze, C.2
von Moers, A.3
Stoltenburg-Didinger, G.4
Shin, Y.S.5
Podskarbi, T.6
Isenhardt, K.7
Tews, D.S.8
Goebel, H.H.9
-
14
-
-
0018344623
-
Muscular form of glycogenosis type II
-
Tanaka K, Shimazu S, Oya N, Tomisawa M, Kusunoki T, Soyama K, Ono E. Muscular form of glycogenosis type II. Pediatrics 1979; 63: 124-129.
-
(1979)
Pediatrics
, vol.63
, pp. 124-129
-
-
Tanaka, K.1
Shimazu, S.2
Oya, N.3
Tomisawa, M.4
Kusunoki, T.5
Soyama, K.6
Ono, E.7
-
15
-
-
33751211826
-
Characterization of pre-and post-treatment pathology after enzyme replacement therapy for pompe disease
-
Thurberg BL, Lynch Maloney C, Vaccaro C, Afonso K, Tsai AC, Bossen EH, Kishnani PS, O'Callaghan M. 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
Lynch Maloney, C.2
Vaccaro, C.3
Afonso, K.4
Tsai, A.C.5
Bossen, E.H.6
Kishnani, P.S.7
O'Callaghan, M.8
-
16
-
-
38549171049
-
Adult glycogenosis type II (Pompe's disease): Morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity
-
Wie'zba-Bobrowicz T, Lewandowska E, Lugowska A, Rola R, Stepień T, Ryglewicz D, Pasennik E. Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity. Folia Neuropathol 2007; 45: 179-186.
-
(2007)
Folia Neuropathol
, vol.45
, pp. 179-186
-
-
Wie'zba-Bobrowicz, T.1
Lewandowska, E.2
Lugowska, A.3
Rola, R.4
Stepień, T.5
Ryglewicz, D.6
Pasennik, E.7
|