메뉴 건너뛰기




Volumn 13, Issue 7-8, 2003, Pages 545-553

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency

Author keywords

Alpha glucosidases; Glycogen storage disease type II; Magnetic resonance spectroscopy

Indexed keywords

CREATINE; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLYCOGEN;

EID: 0041570135     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(03)00069-5     Document Type: Article
Times cited : (22)

References (51)
  • 1
    • 0001216507 scopus 로고
    • 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 scopus 로고
    • 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
  • 3
  • 4
    • 0017461639 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 16
    • 0001107873 scopus 로고
    • 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
  • 19
    • 0032848015 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 24
    • 0033945956 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 40
    • 0025917912 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 49
    • 0032698194 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.