-
1
-
-
0001216507
-
Acid maltase deficiency
-
A.G. Engel, & C. Franzini-Armstrong. New York, NY: McGraw-Hill. (chap. 58)
-
Engel A.G., Hirschhorn R. Acid maltase deficiency. Engel A.G., Franzini-Armstrong C. Myology, basic and clinical. 2nd ed. 1994;1533-1552 McGraw-Hill, New York, NY. (chap. 58).
-
(1994)
Myology, basic and clinical 2nd ed.
, pp. 1533-1552
-
-
Engel, A.G.1
Hirschhorn, R.2
-
2
-
-
0001448360
-
Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York, NY: McGraw-Hill
-
Hirschhorn R. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic and molecular bases of inherited disease. 7th ed. 1995;2443-2464 McGraw-Hill, New York, NY.
-
(1995)
The metabolic and molecular bases of inherited disease 7th ed.
, pp. 2443-2464
-
-
Hirschhorn, R.1
-
4
-
-
0017461639
-
The adult form of acid maltase (alpha-1,4-glucosidase) deficiency
-
Karpati G., Carpenter S., Eisen A., Aube M., DiMauro S. The adult form of acid maltase (alpha-1,4-glucosidase) deficiency. Ann Neurol. 1:1977;276-280.
-
(1977)
Ann Neurol
, vol.1
, pp. 276-280
-
-
Karpati, G.1
Carpenter, S.2
Eisen, A.3
Aube, M.4
DiMauro, S.5
-
5
-
-
0021837794
-
Adult onset acid maltase deficiency. Distribution and progression of clinical and pathological abnormality in a family
-
Swash M., Schwartz M.S., Apps M.C. Adult onset acid maltase deficiency. Distribution and progression of clinical and pathological abnormality in a family. J Neurol Sci. 68:1985;61-74.
-
(1985)
J Neurol Sci
, vol.68
, pp. 61-74
-
-
Swash, M.1
Schwartz, M.S.2
Apps, M.C.3
-
6
-
-
0020362082
-
Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance
-
Stevens A.N., Iles R.A., Morris P.G., Griffiths J.R. Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance. FEBS Lett. 150:1982;489-493.
-
(1982)
FEBS Lett
, vol.150
, pp. 489-493
-
-
Stevens, A.N.1
Iles, R.A.2
Morris, P.G.3
Griffiths, J.R.4
-
7
-
-
0025170098
-
Analysis of glycogen storage disease by in vivo 13C NMR: Comparison of normal volunteers with a patient
-
Beckmann N., Seelig J., Wick H. Analysis of glycogen storage disease by in vivo 13C NMR: comparison of normal volunteers with a patient. Magn Reson Med. 16:1990;150-160.
-
(1990)
Magn Reson Med
, vol.16
, pp. 150-160
-
-
Beckmann, N.1
Seelig, J.2
Wick, H.3
-
10
-
-
0042447825
-
Diagnostic value of the evaluation of the glycogen content in muscle diseases by carbon 13 nuclear magnetic resonance
-
Jehenson P., Duboc D., Labrune P., Fardeau M., Odievre M., Syrota A. Diagnostic value of the evaluation of the glycogen content in muscle diseases by carbon 13 nuclear magnetic resonance. J Chim Phys. 92:1995;1797-1800.
-
(1995)
J Chim Phys
, vol.92
, pp. 1797-1800
-
-
Jehenson, P.1
Duboc, D.2
Labrune, P.3
Fardeau, M.4
Odievre, M.5
Syrota, A.6
-
11
-
-
0030455505
-
Absolute quantification of the hepatic glycogen content in a patient with glycogen storage disease by 13C magnetic resonance spectroscopy
-
Roser W., Beckmann N., Wiesmann U., Seelig J. Absolute quantification of the hepatic glycogen content in a patient with glycogen storage disease by 13C magnetic resonance spectroscopy. Magn Reson Imaging. 14:1996;1217-1220.
-
(1996)
Magn Reson Imaging
, vol.14
, pp. 1217-1220
-
-
Roser, W.1
Beckmann, N.2
Wiesmann, U.3
Seelig, J.4
-
12
-
-
0018907220
-
White blood cells and the diagnosis of alpha-glucosidase deficiency
-
Dreyfus J.C., Poenaru L. White blood cells and the diagnosis of alpha-glucosidase deficiency. Pediatr Res. 14:1980;342-344.
-
(1980)
Pediatr Res
, vol.14
, pp. 342-344
-
-
Dreyfus, J.C.1
Poenaru, L.2
-
13
-
-
0029384345
-
Glycogen storage disease type II: Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients
-
Kroos M.A., Van der Kraan M., Van Diggelen O.P., et al. Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. J Med Genet. 32:1995;836-837.
-
(1995)
J Med Genet
, vol.32
, pp. 836-837
-
-
Kroos, M.A.1
Van der Kraan, M.2
Van Diggelen, O.P.3
-
14
-
-
0034711136
-
Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation
-
Laforet P., Nicolino M., Eymard P.B., et al. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology. 55:2000;1122-1128.
-
(2000)
Neurology
, vol.55
, pp. 1122-1128
-
-
Laforet, P.1
Nicolino, M.2
Eymard, P.B.3
-
15
-
-
46149135128
-
FLASH imaging. Rapid NMR imaging using low flip-angle pulses
-
Haase A., Frahm J., Matthaei D., Hanicke W., Merboldt K.D. FLASH imaging. Rapid NMR imaging using low flip-angle pulses. J Magn Reson. 67:1986;258-266.
-
(1986)
J Magn Reson
, vol.67
, pp. 258-266
-
-
Haase, A.1
Frahm, J.2
Matthaei, D.3
Hanicke, W.4
Merboldt, K.D.5
-
16
-
-
0001107873
-
Improved algorithm for noniterative time-domain model fitting to exponentially damped magnetic resonance signals
-
Barkhuijsen H., de Beer R., van Ormondt D. Improved algorithm for noniterative time-domain model fitting to exponentially damped magnetic resonance signals. J Magn Reson. 73:1987;553-557.
-
(1987)
J Magn Reson
, vol.73
, pp. 553-557
-
-
Barkhuijsen, H.1
De Beer, R.2
Van Ormondt, D.3
-
17
-
-
0020621905
-
Glycogen storage disease. Studies related to mechanism of glycogenosome formation
-
Iwamasa T., Ninomiya N., Fukuda S., Hamada T., Hirashima M., Osame M. Glycogen storage disease. Studies related to mechanism of glycogenosome formation. Pathol Res Pract. 176:1983;236-252.
-
(1983)
Pathol Res Pract
, vol.176
, pp. 236-252
-
-
Iwamasa, T.1
Ninomiya, N.2
Fukuda, S.3
Hamada, T.4
Hirashima, M.5
Osame, M.6
-
18
-
-
0022378966
-
Acid maltase deficiency in adults. Diagnosis and management in five cases
-
Trend P.S., Wiles C.M., Spencer G.T., Morgan-Hughes J.A., Lake B.D., Patrick A.D. Acid maltase deficiency in adults. Diagnosis and management in five cases. Brain. 108:1985;845-860.
-
(1985)
Brain
, vol.108
, pp. 845-860
-
-
Trend, P.S.1
Wiles, C.M.2
Spencer, G.T.3
Morgan-Hughes, J.A.4
Lake, B.D.5
Patrick, A.D.6
-
19
-
-
0032848015
-
Frequency of glycogen storage disease type II in The Netherlands: Implications for diagnosis and genetic counselling
-
Ausems M.G., Verbiest J., Hermans M.P., et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. 7:1999;713-716.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 713-716
-
-
Ausems, M.G.1
Verbiest, J.2
Hermans, M.P.3
-
20
-
-
0029845283
-
Muscle glycogen recovery after exercise during glucose and fructose intake monitored by 13C-NMR
-
van den Bergh A.J., Houtman S., Heerschap A., et al. Muscle glycogen recovery after exercise during glucose and fructose intake monitored by 13C-NMR. J Appl Physiol. 81:1996;1495-1500.
-
(1996)
J Appl Physiol
, vol.81
, pp. 1495-1500
-
-
Van den Bergh, A.J.1
Houtman, S.2
Heerschap, A.3
-
21
-
-
0016199722
-
Glycogen, glycolytic intermediates and high-energy phosphates determined in biopsy samples of musculus quadriceps femoris of man at rest. Methods and variance of values
-
Harris R.C., Hultman E., Nordesjo L.O. Glycogen, glycolytic intermediates and high-energy phosphates determined in biopsy samples of musculus quadriceps femoris of man at rest. Methods and variance of values. Scand J Clin Lab Invest. 33:1974;109-120.
-
(1974)
Scand J Clin Lab Invest
, vol.33
, pp. 109-120
-
-
Harris, R.C.1
Hultman, E.2
Nordesjo, L.O.3
-
22
-
-
0032822221
-
Direct measurement of high-energy phosphate compounds in patients with neuromuscular disease
-
Tarnopolsky M.A., Parise G. Direct measurement of high-energy phosphate compounds in patients with neuromuscular disease. Muscle Nerve. 22:1999;1228-1233.
-
(1999)
Muscle Nerve
, vol.22
, pp. 1228-1233
-
-
Tarnopolsky, M.A.1
Parise, G.2
-
23
-
-
0026340831
-
Electromagnetic fields of surface coil in vivo NMR at high frequencies
-
Keltner J.R., Carlson J.W., Roos M.S., Wong S.T., Wong T.L., Budinger T.F. Electromagnetic fields of surface coil in vivo NMR at high frequencies. Magn Reson Med. 22:1991;467-480.
-
(1991)
Magn Reson Med
, vol.22
, pp. 467-480
-
-
Keltner, J.R.1
Carlson, J.W.2
Roos, M.S.3
Wong, S.T.4
Wong, T.L.5
Budinger, T.F.6
-
24
-
-
0033945956
-
Sensitivity and power deposition in a high-field imaging experiment
-
Hoult D.I., Phil D. Sensitivity and power deposition in a high-field imaging experiment. J Magn Reson Imaging. 12:2000;46-67.
-
(2000)
J Magn Reson Imaging
, vol.12
, pp. 46-67
-
-
Hoult, D.I.1
Phil, D.2
-
26
-
-
0031287112
-
Adiabatic rf pulses: Applications to in vivo NMR
-
de Graaf R.A., Nicolay K. Adiabatic rf pulses: applications to in vivo NMR. Concepts Magn Reson. 9:1997;247-268.
-
(1997)
Concepts Magn Reson
, vol.9
, pp. 247-268
-
-
De Graaf, R.A.1
Nicolay, K.2
-
27
-
-
0026522815
-
Excitation characteristics of adiabatic half-passage RF pulses used in surface coil MR spectroscopy. Application to 13C detection of glycogen in the rat liver
-
van Cauteren M., Miot F., Segebarth C.M., Eisendrath H., Osteaux M., Willem R. Excitation characteristics of adiabatic half-passage RF pulses used in surface coil MR spectroscopy. Application to 13C detection of glycogen in the rat liver. Phys Med Biol. 37:1992;1055-1064.
-
(1992)
Phys Med Biol
, vol.37
, pp. 1055-1064
-
-
Van Cauteren, M.1
Miot, F.2
Segebarth, C.M.3
Eisendrath, H.4
Osteaux, M.5
Willem, R.6
-
28
-
-
0001879735
-
Theoretical analysis of relaxation during shaped pulses. I The effects of short T1 and T2
-
Hajduk P.J., Horita D.A., Lerner L.E. Theoretical analysis of relaxation during shaped pulses. I The effects of short T1 and T2. J Magn Reson. A:1993;40-52.
-
(1993)
J Magn Reson
, vol.A
, pp. 40-52
-
-
Hajduk, P.J.1
Horita, D.A.2
Lerner, L.E.3
-
29
-
-
0033646946
-
Is in vivo nuclear magnetic resonance spectroscopy currently a quantitative method for whole-body carbohydrate metabolism?
-
Murphy E., Hellerstein M. Is in vivo nuclear magnetic resonance spectroscopy currently a quantitative method for whole-body carbohydrate metabolism? Nutr Rev. 58:2000;304-314.
-
(2000)
Nutr Rev
, vol.58
, pp. 304-314
-
-
Murphy, E.1
Hellerstein, M.2
-
30
-
-
0017386923
-
The influence of lysosomes on glycogen metabolism
-
Geddes R., Stratton G.C. The influence of lysosomes on glycogen metabolism. Biochem J. 163:1977;193-200.
-
(1977)
Biochem J
, vol.163
, pp. 193-200
-
-
Geddes, R.1
Stratton, G.C.2
-
33
-
-
0020585879
-
Structure and metabolism of mammalian liver glycogen monitored by carbon-13 nuclear magnetic resonance
-
Sillerud L.O., Shulman R.G. Structure and metabolism of mammalian liver glycogen monitored by carbon-13 nuclear magnetic resonance. Biochemistry. 22:1983;1087-1094.
-
(1983)
Biochemistry
, vol.22
, pp. 1087-1094
-
-
Sillerud, L.O.1
Shulman, R.G.2
-
35
-
-
0031991445
-
1H NMR spectroscopy study of the dynamic properties of glycogen in solution by steady-state magnetisation measurement with off-resonance irradiation
-
Wary C., Desvaux H., Van Cauteren M., Vanstapel F., Carlier P.G., Jehenson P. 1H NMR spectroscopy study of the dynamic properties of glycogen in solution by steady-state magnetisation measurement with off-resonance irradiation. Carbohydr Res. 306:1998;479-491.
-
(1998)
Carbohydr Res
, vol.306
, pp. 479-491
-
-
Wary, C.1
Desvaux, H.2
Van Cauteren, M.3
Vanstapel, F.4
Carlier, P.G.5
Jehenson, P.6
-
36
-
-
0027113446
-
Molecular and metabolic aspects of lysosomal glycogen
-
Geddes R., Jeyarathan P., Taylor J.A. Molecular and metabolic aspects of lysosomal glycogen. Carbohydr Res. 227:1992;339-349.
-
(1992)
Carbohydr Res
, vol.227
, pp. 339-349
-
-
Geddes, R.1
Jeyarathan, P.2
Taylor, J.A.3
-
37
-
-
0024312124
-
Rat skeletal muscle lysosomes contain glycogen
-
Calder P.C., Geddes R. Rat skeletal muscle lysosomes contain glycogen. Int J Biochem. 21:1989;561-567.
-
(1989)
Int J Biochem
, vol.21
, pp. 561-567
-
-
Calder, P.C.1
Geddes, R.2
-
39
-
-
0028182851
-
Validation of 13C NMR measurements of liver glycogen in vivo
-
Gruetter R., Magnusson I., Rothman D.L., Avison M.J., Shulman R.G., Shulman G.I. Validation of 13C NMR measurements of liver glycogen in vivo. Magn Reson Med. 31:1994;583-588.
-
(1994)
Magn Reson Med
, vol.31
, pp. 583-588
-
-
Gruetter, R.1
Magnusson, I.2
Rothman, D.L.3
Avison, M.J.4
Shulman, R.G.5
Shulman, G.I.6
-
40
-
-
0025917912
-
13C NMR visibility of rabbit muscle glycogen in vivo
-
Gruetter R., Prolla T.A., Shulman R.G. 13C NMR visibility of rabbit muscle glycogen in vivo. Magn Reson Med. 20:1991;327-332.
-
(1991)
Magn Reson Med
, vol.20
, pp. 327-332
-
-
Gruetter, R.1
Prolla, T.A.2
Shulman, R.G.3
-
42
-
-
0021347933
-
Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture
-
Griffin J.L. Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture. Virchows Arch B Cell Pathol Incl Mol Pathol. 45:1984;23-36.
-
(1984)
Virchows Arch B Cell Pathol Incl Mol Pathol
, vol.45
, pp. 23-36
-
-
Griffin, J.L.1
-
43
-
-
0025952835
-
Japanese quail and human acid maltase deficiency: A comparative study
-
Fujita T., Nonaka I., Sugita H. Japanese quail and human acid maltase deficiency: a comparative study. Brain Dev. 13:1991;247-255.
-
(1991)
Brain Dev
, vol.13
, pp. 247-255
-
-
Fujita, T.1
Nonaka, I.2
Sugita, H.3
-
44
-
-
0021167165
-
The effect of age on biochemical and morphological changes in the semitendinosus muscle of cattle with generalized glycogenosis type II
-
Howell J.M., Dorling P.R., Cook R.D. The effect of age on biochemical and morphological changes in the semitendinosus muscle of cattle with generalized glycogenosis type II. Neuropathol Appl Neurobiol. 10:1984;255-266.
-
(1984)
Neuropathol Appl Neurobiol
, vol.10
, pp. 255-266
-
-
Howell, J.M.1
Dorling, P.R.2
Cook, R.D.3
-
45
-
-
0034212319
-
Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene
-
Raben N., Nagaraju K., Lee E., Plotz P. Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene. Neuromuscul Disord. 10:2000;283-291.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 283-291
-
-
Raben, N.1
Nagaraju, K.2
Lee, E.3
Plotz, P.4
-
46
-
-
0035746540
-
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
-
Amalfitano A., Bengur A.R., Morse R.P., et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med. 3:2001;132-138.
-
(2001)
Genet Med
, vol.3
, pp. 132-138
-
-
Amalfitano, A.1
Bengur, A.R.2
Morse, R.P.3
-
47
-
-
0034212568
-
Towards a molecular therapy for glycogen storage disease type II (Pompe disease)
-
Chen Y.T., Amalfitano A. Towards a molecular therapy for glycogen storage disease type II (Pompe disease). Mol Med Today. 6:2000;245-251.
-
(2000)
Mol Med Today
, vol.6
, pp. 245-251
-
-
Chen, Y.T.1
Amalfitano, A.2
-
48
-
-
0034729963
-
Recombinant human alpha-glucosidase from rabbit milk in Pompe patients
-
Van den Hout H., Reuser A.J., Vulto A.G., Loonen M.C., Cromme-Dijkhuis A., Van der Ploeg A.T. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet. 356:2000;397-398.
-
(2000)
Lancet
, vol.356
, pp. 397-398
-
-
Van den Hout, H.1
Reuser, A.J.2
Vulto, A.G.3
Loonen, M.C.4
Cromme-Dijkhuis, A.5
Van der Ploeg, A.T.6
-
49
-
-
0032698194
-
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II
-
Bijvoet A.G., Van Hirtum H., Kroos M.A., et al. Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet. 8:1999;2145-2153.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2145-2153
-
-
Bijvoet, A.G.1
Van Hirtum, H.2
Kroos, M.A.3
-
50
-
-
0032519686
-
Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail
-
Kikuchi T., Yang H.W., Pennybacker M., et al. Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail. J Clin Invest. 101:1998;827-833.
-
(1998)
J Clin Invest
, vol.101
, pp. 827-833
-
-
Kikuchi, T.1
Yang, H.W.2
Pennybacker, M.3
-
51
-
-
0000969126
-
Signal-to-noise optimization and observed volume localization with circular surface coils
-
Evelhoch J.L., Growley M.J., Ackerman J.J.H. Signal-to-noise optimization and observed volume localization with circular surface coils. J Magn Reson. 56:1984;110-124.
-
(1984)
J Magn Reson
, vol.56
, pp. 110-124
-
-
Evelhoch, J.L.1
Growley, M.J.2
Ackerman, J.J.H.3
|