-
1
-
-
0023520094
-
Alpha-Glucosidase deficiency (Pompe's disease)
-
Tager JM, Oude Elferink RP, Reuser A, et al. alpha-Glucosidase deficiency (Pompe's disease). Enzyme 1987; 38: 280-5.
-
(1987)
Enzyme
, vol.38
, pp. 280-285
-
-
Tager, J.M.1
Oude Elferink, R.P.2
Reuser, A.3
-
3
-
-
0015929582
-
Pompe's disease: An inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle
-
Berl
-
Martin JJ, de Barsy T, van Hoof F, Palladini G. Pompe's disease: An inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle. Acta Neuropathol (Berl) 1973; 23: 229-44.
-
(1973)
Acta Neuropathol
, vol.23
, pp. 229-244
-
-
Martin, J.J.1
De Barsy, T.2
Van Hoof, F.3
Palladini, G.4
-
4
-
-
0014833841
-
Pompe's disease. Electromyographic, electron microscopic, and cardiovascular aspects
-
Bordiuk JM, Legato MJ, Lovelace RE, Blumenthal S. Pompe's disease. Electromyographic, electron microscopic, and cardiovascular aspects. Arch Neurol 1970; 23: 113-9.
-
(1970)
Arch Neurol
, vol.23
, pp. 113-119
-
-
Bordiuk, J.M.1
Legato, M.J.2
Lovelace, R.E.3
Blumenthal, S.4
-
6
-
-
0022596771
-
Clinical analysis of five infants with glycogen storage disease of the heart-Pompe's disease
-
Hwang B, Meng CC, Lin CY, Hsu HC. Clinical analysis of five infants with glycogen storage disease of the heart-Pompe's disease. Jpn Heart J 1986; 27: 25-34.
-
(1986)
Jpn Heart J
, vol.27
, pp. 25-34
-
-
Hwang, B.1
Meng, C.C.2
Lin, C.Y.3
Hsu, H.C.4
-
7
-
-
0024099017
-
Pompe's disease: Report of a neonatal case
-
Chen MR, Lin SP, Loo JH, Sung TC, Chen BF. Pompe's disease: Report of a neonatal case. Taiwan Yi Xue Hui Za Zhi 1988; 87: 1017-20.
-
(1988)
Taiwan Yi Xue Hui Za Zhi
, vol.87
, pp. 1017-1020
-
-
Chen, M.R.1
Lin, S.P.2
Loo, J.H.3
Sung, T.C.4
Chen, B.F.5
-
8
-
-
0016126646
-
Electrophysiological mechanism of the short PR interval in Pompe disease
-
Gillette PC, Nihill MR, Singer DB. Electrophysiological mechanism of the short PR interval in Pompe disease. Am J Dis Child 1974; 128: 622-6.
-
(1974)
Am J Dis Child
, vol.128
, pp. 622-626
-
-
Gillette, P.C.1
Nihill, M.R.2
Singer, D.B.3
-
9
-
-
0016318559
-
Glycogenosis type II (Pompe). the fourth autopsy case in Japan
-
Sakurai I, Tosaka A, Mori Y, Imura S, Aoki K. Glycogenosis type II (Pompe). The fourth autopsy case in Japan. Acta Pathol Jpn 1974; 24: 829-46.
-
(1974)
Acta Pathol Jpn
, vol.24
, pp. 829-846
-
-
Sakurai, I.1
Tosaka, A.2
Mori, Y.3
Imura, S.4
Aoki, K.5
-
10
-
-
0026592724
-
Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation
-
Wijburg FA, Rosenblatt DS, Vos GD, et al. Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation. Eur J Pediatr 1992; 151: 127-31.
-
(1992)
Eur J Pediatr
, vol.151
, pp. 127-131
-
-
Wijburg, F.A.1
Rosenblatt, D.S.2
Vos, G.D.3
-
11
-
-
0014774632
-
Acid maltase deficiency: Comparison of infantile, childhood, and adult types
-
Engel AG, Seybold ME, Lambert EH, Gomez MR. Acid maltase deficiency: Comparison of infantile, childhood, and adult types. Neurology 1970; 20: 382.
-
(1970)
Neurology
, vol.20
, pp. 382
-
-
Engel, A.G.1
Seybold, M.E.2
Lambert, E.H.3
Gomez, M.R.4
-
12
-
-
0027239665
-
Elevation of transaminases as an early sign of late-onset glycogenosis type II
-
Di Fiore MT, Manfredi R, Marri L, Zucchini A, Azzaroli L, Manfredi G. Elevation of transaminases as an early sign of late-onset glycogenosis type II. Eur J Pediatr 1993; 152: 784.
-
(1993)
Eur J Pediatr
, vol.152
, pp. 784
-
-
Di Fiore, M.T.1
Manfredi, R.2
Marri, L.3
Zucchini, A.4
Azzaroli, L.5
Manfredi, G.6
-
13
-
-
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: 249-59.
-
(1966)
Pediatrics
, vol.37
, pp. 249-259
-
-
Cardiff, R.D.1
-
14
-
-
0014986374
-
Electron microscopic and biochemical studies of late-onset Pompe's disease (Con type II b glycogeneosis): Proposal for pathogenesis, potential for therapy
-
Graham DG, Sidbury JB, Jr. Electron microscopic and biochemical studies of late-onset Pompe's disease (Con type II b glycogeneosis): Proposal for pathogenesis, potential for therapy. J Neuropathol Exp Neurol 1971; 30: 143-4.
-
(1971)
J Neuropathol Exp Neurol
, vol.30
, pp. 143-144
-
-
Graham, D.G.1
Sidbury Jr., J.B.2
-
15
-
-
0015348407
-
Electron microscopy of ocular muscle in type II glycogenosis (Pompe's disease)
-
Smith RS, Reinecke RD. Electron microscopy of ocular muscle in type II glycogenosis (Pompe's disease). Am J Ophthalmol 1972; 73: 965-70.
-
(1972)
Am J Ophthalmol
, vol.73
, pp. 965-970
-
-
Smith, R.S.1
Reinecke, R.D.2
-
16
-
-
0021187693
-
Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amnioticfluid cells
-
Hug G, Soukup S, Ryan M, Chuck G. Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amnioticfluid cells. N Engl J Med 1984; 310: 1018-22.
-
(1984)
N Engl J Med
, vol.310
, pp. 1018-1022
-
-
Hug, G.1
Soukup, S.2
Ryan, M.3
Chuck, G.4
-
17
-
-
0015093712
-
Nervous system in Pompe's disease. Ultrastructure and biochemistry
-
Gambetti P, DiMauro S, Baker L. Nervous system in Pompe's disease. Ultrastructure and biochemistry. J Neuropathol Exp Neurol 1971; 30: 412-30.
-
(1971)
J Neuropathol Exp Neurol
, vol.30
, pp. 412-430
-
-
Gambetti, P.1
DiMauro, S.2
Baker, L.3
-
18
-
-
17044440789
-
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
-
Nishino I, Fu J, Tanji K, et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000; 406: 906-10.
-
(2000)
Nature
, vol.406
, pp. 906-910
-
-
Nishino, I.1
Fu, J.2
Tanji, K.3
-
20
-
-
0022909266
-
Subcellular distribution of acid alpha-glucosidase in fibroblasts and of antigenically cross-reactive material in Pompe's disease fibroblasts
-
Iwamasa T, Nashiro K, Ohshita T, Matsuda I. Subcellular distribution of acid alpha-glucosidase in fibroblasts and of antigenically cross-reactive material in Pompe's disease fibroblasts. Histochem J 1986; 18: 613-24.
-
(1986)
Histochem J
, vol.18
, pp. 613-624
-
-
Iwamasa, T.1
Nashiro, K.2
Ohshita, T.3
Matsuda, I.4
-
21
-
-
0021911019
-
Diagnosis of Pompe's disease using pyridylamino-maltooligosaccharides as substrates of alpha-1,4-glucosidase
-
Midorikawa M, Okada S, Kato T, Yutaka T, Yabuuchi H. Diagnosis of Pompe's disease using pyridylamino-maltooligosaccharides as substrates of alpha-1,4-glucosidase. Clin Chim Acta 1985; 147: 97-102.
-
(1985)
Clin Chim Acta
, vol.147
, pp. 97-102
-
-
Midorikawa, M.1
Okada, S.2
Kato, T.3
Yutaka, T.4
Yabuuchi, H.5
-
22
-
-
0020562558
-
Immunohistochemical demonstration of acid alpha-glucosidase in muscle in Pompe's disease
-
Ninomiya N, Matsuda I, Fukuda S, Iwamasa T, Osame M. Immunohistochemical demonstration of acid alpha-glucosidase in muscle in Pompe's disease. Histochem J 1983; 15: 601-4.
-
(1983)
Histochem J
, vol.15
, pp. 601-604
-
-
Ninomiya, N.1
Matsuda, I.2
Fukuda, S.3
Iwamasa, T.4
Osame, M.5
-
23
-
-
0015155703
-
Alpha-1, 4 glucosidase activity in Pompe's disease
-
Salafsky IS, Nadler HL. Alpha-1, 4 glucosidase activity in Pompe's disease. J Pediatr 1971; 79: 794-8.
-
(1971)
J Pediatr
, vol.79
, pp. 794-798
-
-
Salafsky, I.S.1
Nadler, H.L.2
-
24
-
-
0017641429
-
Properties of the alpha-glucosidase from various human tissues in relation to glycogenosis type II (Pompe's disease)
-
Soyama K, Ono E, Shimada N, Tanaka K, Oya N. Properties of the alpha-glucosidase from various human tissues in relation to glycogenosis type II (Pompe's disease). Clin Chim Acta 1977; 78: 473-8.
-
(1977)
Clin Chim Acta
, vol.78
, pp. 473-478
-
-
Soyama, K.1
Ono, E.2
Shimada, N.3
Tanaka, K.4
Oya, N.5
-
25
-
-
0034911699
-
Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease
-
Umapathysivam K, Hopwood JJ, Meikle PJ. Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem 2001; 47: 1378-83.
-
(2001)
Clin Chem
, vol.47
, pp. 1378-1383
-
-
Umapathysivam, K.1
Hopwood, J.J.2
Meikle, P.J.3
-
26
-
-
0023865598
-
Comparative investigation of alpha-glucosidase activity in leucocytes and skeletal muscle of patients with Morbus Pompe
-
Didt L, Winkler M, Buhrdel P, Bormann M, Bohme HJ, Hofmann E. Comparative investigation of alpha-glucosidase activity in leucocytes and skeletal muscle of patients with Morbus Pompe. Z Med Lab Diagn 1988; 29: 7-11.
-
(1988)
Z Med Lab Diagn
, vol.29
, pp. 7-11
-
-
Didt, L.1
Winkler, M.2
Buhrdel, P.3
Bormann, M.4
Bohme, H.J.5
Hofmann, E.6
-
27
-
-
0021815441
-
Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells
-
Shin YS, Endres W, Unterreithmeier J, Rieth M, Schaub J. Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells. Clin Chim Acta 1985; 148: 9-19.
-
(1985)
Clin Chim Acta
, vol.148
, pp. 9-19
-
-
Shin, Y.S.1
Endres, W.2
Unterreithmeier, J.3
Rieth, M.4
Schaub, J.5
-
28
-
-
0018068562
-
Alpha-glucosidase activity in human leucocytes: Choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state
-
Taniguchi N, Kato E, Yoshida H, Iwaki S, Ohki T, Koizumi S. alpha-glucosidase activity in human leucocytes: Choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state. Clin Chim Acta 1978; 89: 293-9.
-
(1978)
Clin Chim Acta
, vol.89
, pp. 293-299
-
-
Taniguchi, N.1
Kato, E.2
Yoshida, H.3
Iwaki, S.4
Ohki, T.5
Koizumi, S.6
-
29
-
-
0015944308
-
The use of leucocytes as an aid in the diagnosis of glycogen storage disease type II (Pompe's disease)
-
Koster JF, Slee RG, Hulsmann WC. The use of leucocytes as an aid in the diagnosis of glycogen storage disease type II (Pompe's disease). Clin Chim Acta 1974; 51: 319-25.
-
(1974)
Clin Chim Acta
, vol.51
, pp. 319-325
-
-
Koster, J.F.1
Slee, R.G.2
Hulsmann, W.C.3
-
30
-
-
0015165527
-
Choice of leucocyte preparation in the diagnosis of glycogen storage disease type II (Pompe's disease)
-
Wyss SR, Koster JF, Hulsmann WC. Choice of leucocyte preparation in the diagnosis of glycogen storage disease type II (Pompe's disease). Clin Chim Acta 1971; 35: 277-80.
-
(1971)
Clin Chim Acta
, vol.35
, pp. 277-280
-
-
Wyss, S.R.1
Koster, J.F.2
Hulsmann, W.C.3
-
31
-
-
0036133715
-
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)
-
Fernandez-Hojas R, Huie ML, Navarro C, et al. Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). Neuromuscul Disord 2002; 12: 159-66.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 159-166
-
-
Fernandez-Hojas, R.1
Huie, M.L.2
Navarro, C.3
-
32
-
-
0027937760
-
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)
-
Huie ML, Hirschhorn R, Chen AS, Martiniuk F, Zhong N. Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease). Hum Mutat 1994; 4: 291-3.
-
(1994)
Hum Mutat
, vol.4
, pp. 291-293
-
-
Huie, M.L.1
Hirschhorn, R.2
Chen, A.S.3
Martiniuk, F.4
Zhong, N.5
-
33
-
-
0032911150
-
Molecular genetic study of Pompe disease in Chinese patients in Taiwan
-
Ko TM, Hwu WL, Lin YW, et al. Molecular genetic study of Pompe disease in Chinese patients in Taiwan. Hum Mutat 1999; 13: 380-4.
-
(1999)
Hum Mutat
, vol.13
, pp. 380-384
-
-
Ko, T.M.1
Hwu, W.L.2
Lin, Y.W.3
-
34
-
-
0030093811
-
Molecular study on the infantile form of Pompe disease in Chinese in Taiwan
-
Lin CY, Shieh JJ. Molecular study on the infantile form of Pompe disease in Chinese in Taiwan. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1996; 37: 115-21.
-
(1996)
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
, vol.37
, pp. 115-121
-
-
Lin, C.Y.1
Shieh, J.J.2
-
36
-
-
0023410320
-
Glycogen storage disease type II (Pompe's disease): The first biochemical evidence in Thailand
-
Rangdaeng S, Scollard DM, Srichairatanakol S, Sutthachit M, Phornphutkul C. Glycogen storage disease type II (Pompe's disease): The first biochemical evidence in Thailand. J Med Assoc Thai 1987; 70: 536-42.
-
(1987)
J Med Assoc Thai
, vol.70
, pp. 536-542
-
-
Rangdaeng, S.1
Scollard, D.M.2
Srichairatanakol, S.3
Sutthachit, M.4
Phornphutkul, C.5
-
39
-
-
0033301455
-
Inherited metabolic disorders in Thailand-Siriraj experience
-
Wasant P, Svasti J, Srisomsap C, Liammongkolkul S, Naylor EW, Matsumoto I. Inherited metabolic disorders in Thailand-Siriraj experience. Southeast Asian J Trop Med Public Health 1999; 30: 124-37.
-
(1999)
Southeast Asian J Trop Med Public Health
, vol.30
, pp. 124-137
-
-
Wasant, P.1
Svasti, J.2
Srisomsap, C.3
Liammongkolkul, S.4
Naylor, E.W.5
Matsumoto, I.6
|