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Volumn 20, Issue 8, 2010, Pages 548-558

Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy

Author keywords

BOLD; Debranching enzyme; Glycogen; Glycogen storage disease; Imaging; Muscle function; Myopathy; NMR; Perfusion; Spectroscopy

Indexed keywords

CREATINE PHOSPHATE; MYOGLOBIN;

EID: 77955277898     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.06.011     Document Type: Article
Times cited : (35)

References (60)
  • 1
    • 0006010734 scopus 로고
    • Glycogen storage disease; report of a case with abnormal glycogen structure in liver and skeletal muscle
    • Forbes G.B. Glycogen storage disease; report of a case with abnormal glycogen structure in liver and skeletal muscle. J Pediatr 1953, 42:645-653.
    • (1953) J Pediatr , vol.42 , pp. 645-653
    • Forbes, G.B.1
  • 2
    • 0005908310 scopus 로고
    • Amylo-1,6-glucosidase in muscle tissue in generalized glycogen storage disease
    • Illingworth B., Cori G.T., Cori C.F. Amylo-1,6-glucosidase in muscle tissue in generalized glycogen storage disease. J Biol Chem 1956, 218:123-129.
    • (1956) J Biol Chem , vol.218 , pp. 123-129
    • Illingworth, B.1    Cori, G.T.2    Cori, C.F.3
  • 3
    • 0027049711 scopus 로고
    • Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy
    • Coleman R.A., Winter H.S., Wolf B., Gilchrist J.M., Chen Y.T. Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med 1992, 116:896-900.
    • (1992) Ann Intern Med , vol.116 , pp. 896-900
    • Coleman, R.A.1    Winter, H.S.2    Wolf, B.3    Gilchrist, J.M.4    Chen, Y.T.5
  • 4
    • 0032832799 scopus 로고    scopus 로고
    • Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis
    • Kiechl S., Willeit J., Vogel W., Kohlendorfer U., Poewe W. Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis. Neuromuscul Disord 1999, 9:408-410.
    • (1999) Neuromuscul Disord , vol.9 , pp. 408-410
    • Kiechl, S.1    Willeit, J.2    Vogel, W.3    Kohlendorfer, U.4    Poewe, W.5
  • 5
    • 0026589843 scopus 로고
    • Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis
    • Momoi T., Sano H., Yamanaka C., Sasaki H., Mikawa H. Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis. Am J Med Genet 1992, 42:696-699.
    • (1992) Am J Med Genet , vol.42 , pp. 696-699
    • Momoi, T.1    Sano, H.2    Yamanaka, C.3    Sasaki, H.4    Mikawa, H.5
  • 6
    • 0030054818 scopus 로고    scopus 로고
    • Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle
    • Shen J., Bao Y., Liu H.M., Lee P., Leonard J.V., Chen Y.T. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J Clin Invest 1996, 98:352-357.
    • (1996) J Clin Invest , vol.98 , pp. 352-357
    • Shen, J.1    Bao, Y.2    Liu, H.M.3    Lee, P.4    Leonard, J.V.5    Chen, Y.T.6
  • 7
    • 33745305424 scopus 로고    scopus 로고
    • Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL
    • Lucchiari S., Pagliarani S., Salani S., Filocamo M., Di Rocco M., Melis D., et al. Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. Hum Mutat 2006, 27:600-601.
    • (2006) Hum Mutat , vol.27 , pp. 600-601
    • Lucchiari, S.1    Pagliarani, S.2    Salani, S.3    Filocamo, M.4    Di Rocco, M.5    Melis, D.6
  • 8
    • 0033952199 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease
    • Shaiu W.L., Kishnani P.S., Shen J., Liu H.M., Chen Y.T. Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. Mol Genet Metab 2000, 69:16-23.
    • (2000) Mol Genet Metab , vol.69 , pp. 16-23
    • Shaiu, W.L.1    Kishnani, P.S.2    Shen, J.3    Liu, H.M.4    Chen, Y.T.5
  • 9
    • 0003579225 scopus 로고
    • Clinical examination, differential diagnosis and classification
    • Churchill Livingstone, New York, J. Walton, G. Karpati, D. Hilton-Jones (Eds.)
    • Walton J., Rowland L. Clinical examination, differential diagnosis and classification. Disorders of Voluntary Muscle 1994, 1771. Churchill Livingstone, New York. sixth ed. J. Walton, G. Karpati, D. Hilton-Jones (Eds.).
    • (1994) Disorders of Voluntary Muscle , pp. 1771
    • Walton, J.1    Rowland, L.2
  • 10
    • 0013340645 scopus 로고    scopus 로고
    • Improved methodology for dynamic studies of muscle oxygen metabolism using 1H/31P imaging/spectroscopy protocols (Abstract)
    • Raynaud J.S., Carlier P.G., Wary C., Duteil S., Leroy-Willig A., Vaughan J.T., et al. Improved methodology for dynamic studies of muscle oxygen metabolism using 1H/31P imaging/spectroscopy protocols (Abstract). MAGMA 1999, 9:150.
    • (1999) MAGMA , vol.9 , pp. 150
    • Raynaud, J.S.1    Carlier, P.G.2    Wary, C.3    Duteil, S.4    Leroy-Willig, A.5    Vaughan, J.T.6
  • 17
    • 0027633260 scopus 로고
    • 31P MRS. The role of pH in the evaluation of phosphocreatine and inorganic phosphate recoveries from exercise
    • 31P MRS. The role of pH in the evaluation of phosphocreatine and inorganic phosphate recoveries from exercise. NMR Biomed 1993, 6:248-253.
    • (1993) NMR Biomed , vol.6 , pp. 248-253
    • Iotti, S.1    Lodi, R.2    Frassineti, C.3    Zaniol, P.4    Barbiroli, B.5
  • 18
    • 0034894596 scopus 로고    scopus 로고
    • Determination of skeletal muscle perfusion using arterial spin labeling NMRI: validation by comparison with venous occlusion plethysmography
    • Raynaud J.S., Duteil S., Vaughan J.T., Hennel F., Wary C., Leroy-Willig A., et al. Determination of skeletal muscle perfusion using arterial spin labeling NMRI: validation by comparison with venous occlusion plethysmography. Magn Reson Med 2001, 46:305-311.
    • (2001) Magn Reson Med , vol.46 , pp. 305-311
    • Raynaud, J.S.1    Duteil, S.2    Vaughan, J.T.3    Hennel, F.4    Wary, C.5    Leroy-Willig, A.6
  • 20
    • 26844457381 scopus 로고    scopus 로고
    • How to investigate oxygen supply, uptake, and utilization simultaneously by interleaved NMR imaging and spectroscopy of the skeletal muscle
    • Carlier P.G., Brillault-Salvat C., Giacomini E., Wary C., Bloch G. How to investigate oxygen supply, uptake, and utilization simultaneously by interleaved NMR imaging and spectroscopy of the skeletal muscle. Magn Reson Med 2005, 54:1010-1013.
    • (2005) Magn Reson Med , vol.54 , pp. 1010-1013
    • Carlier, P.G.1    Brillault-Salvat, C.2    Giacomini, E.3    Wary, C.4    Bloch, G.5
  • 22
    • 0031660415 scopus 로고    scopus 로고
    • Evidence of muscle BOLD effect revealed by simultaneous interleaved gradient-echo NMRI and myoglobin NMRS during leg ischemia
    • Lebon V., Brillault-Salvat C., Bloch G., Leroy-Willig A., Carlier P.G. Evidence of muscle BOLD effect revealed by simultaneous interleaved gradient-echo NMRI and myoglobin NMRS during leg ischemia. Magn Reson Med 1998, 40:551-558.
    • (1998) Magn Reson Med , vol.40 , pp. 551-558
    • Lebon, V.1    Brillault-Salvat, C.2    Bloch, G.3    Leroy-Willig, A.4    Carlier, P.G.5
  • 23
    • 32544454647 scopus 로고    scopus 로고
    • Influence of vascular filling and perfusion on BOLD contrast during reactive hyperemia in human skeletal muscle
    • Duteil S., Wary C., Raynaud J.S., Lebon V., Lesage D., Leroy-Willig A., et al. Influence of vascular filling and perfusion on BOLD contrast during reactive hyperemia in human skeletal muscle. Magn Reson Med 2006, 55:450-454.
    • (2006) Magn Reson Med , vol.55 , pp. 450-454
    • Duteil, S.1    Wary, C.2    Raynaud, J.S.3    Lebon, V.4    Lesage, D.5    Leroy-Willig, A.6
  • 24
    • 34547927979 scopus 로고    scopus 로고
    • Absolute and relative contributions of BOLD effects to the muscle functional MRI signal intensity time course: effect of exercise intensity
    • Damon B.M., Wadington M.C., Hornberger J.L., Lansdown D.A. Absolute and relative contributions of BOLD effects to the muscle functional MRI signal intensity time course: effect of exercise intensity. Magn Reson Med 2007, 58:335-345.
    • (2007) Magn Reson Med , vol.58 , pp. 335-345
    • Damon, B.M.1    Wadington, M.C.2    Hornberger, J.L.3    Lansdown, D.A.4
  • 25
    • 0034166415 scopus 로고    scopus 로고
    • Functional magnetic resonance imaging of muscle
    • Meyer R.A., Prior B.M. Functional magnetic resonance imaging of muscle. Exerc Sport Sci Rev 2000, 28:89-92.
    • (2000) Exerc Sport Sci Rev , vol.28 , pp. 89-92
    • Meyer, R.A.1    Prior, B.M.2
  • 26
    • 0035190320 scopus 로고    scopus 로고
    • Skeletal muscle intracellular PO(2) assessed by myoglobin desaturation: response to graded exercise
    • Richardson R.S., Newcomer S.C., Noyszewski E.A. Skeletal muscle intracellular PO(2) assessed by myoglobin desaturation: response to graded exercise. J Appl Physiol 2001, 91:2679-2685.
    • (2001) J Appl Physiol , vol.91 , pp. 2679-2685
    • Richardson, R.S.1    Newcomer, S.C.2    Noyszewski, E.A.3
  • 29
    • 77955273346 scopus 로고    scopus 로고
    • Influence of workload on human calf muscle following dynamic aerobic exercise: BOLD effect, perfusion, oxygenation and energetics assessed by mpf-NMR
    • Monnet A., Wary C., Wuyam B., Verges S., Duteil S., Carlier P.G. Influence of workload on human calf muscle following dynamic aerobic exercise: BOLD effect, perfusion, oxygenation and energetics assessed by mpf-NMR. MAGMA 2008, 21(Suppl. 1):92.
    • (2008) MAGMA , vol.21 , Issue.SUPPL. 1 , pp. 92
    • Monnet, A.1    Wary, C.2    Wuyam, B.3    Verges, S.4    Duteil, S.5    Carlier, P.G.6
  • 30
    • 0020062699 scopus 로고
    • Clinical use of nuclear magnetic resonance in the investigation of myopathy
    • Edwards R.H., Dawson M.J., Wilkie D.R., Gordon R.E., Shaw D. Clinical use of nuclear magnetic resonance in the investigation of myopathy. Lancet 1982, 1:725-731.
    • (1982) Lancet , vol.1 , pp. 725-731
    • Edwards, R.H.1    Dawson, M.J.2    Wilkie, D.R.3    Gordon, R.E.4    Shaw, D.5
  • 31
    • 0036784416 scopus 로고    scopus 로고
    • MR imaging of primary skeletal muscle diseases in children
    • Chan W.P., Liu G.C. MR imaging of primary skeletal muscle diseases in children. AJR Am J Roentgenol 2002, 179:989-997.
    • (2002) AJR Am J Roentgenol , vol.179 , pp. 989-997
    • Chan, W.P.1    Liu, G.C.2
  • 32
    • 34948880107 scopus 로고    scopus 로고
    • Skeletal muscle imaging and inflammatory myopathies
    • Kuo G.P., Carrino J.A. Skeletal muscle imaging and inflammatory myopathies. Curr Opin Rheumatol 2007, 19:530-535.
    • (2007) Curr Opin Rheumatol , vol.19 , pp. 530-535
    • Kuo, G.P.1    Carrino, J.A.2
  • 33
    • 33644776624 scopus 로고    scopus 로고
    • The use of MRI in the evaluation of myopathy
    • Lovitt S., Moore S.L., Marden F.A. The use of MRI in the evaluation of myopathy. Clin Neurophysiol 2006, 117:486-495.
    • (2006) Clin Neurophysiol , vol.117 , pp. 486-495
    • Lovitt, S.1    Moore, S.L.2    Marden, F.A.3
  • 37
    • 0020522923 scopus 로고
    • Clinical investigation in Duchenne dystrophy: 2. Determination of the " power" of therapeutic trials based on the natural history
    • Brooke M.H., Fenichel G.M., Griggs R.C., Mendell J.R., Moxley R., Miller J.P., et al. Clinical investigation in Duchenne dystrophy: 2. Determination of the " power" of therapeutic trials based on the natural history. Muscle Nerve 1983, 6:91-103.
    • (1983) Muscle Nerve , vol.6 , pp. 91-103
    • Brooke, M.H.1    Fenichel, G.M.2    Griggs, R.C.3    Mendell, J.R.4    Moxley, R.5    Miller, J.P.6
  • 39
    • 0026572170 scopus 로고
    • Carbon-13 magnetic resonance in biology and medicine
    • Seelig J., Burlina A.P. Carbon-13 magnetic resonance in biology and medicine. Clin Chim Acta 1992, 206:125-136.
    • (1992) Clin Chim Acta , vol.206 , pp. 125-136
    • Seelig, J.1    Burlina, A.P.2
  • 40
    • 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 1995, 92:1797-1800.
    • (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
  • 41
    • 0030036060 scopus 로고    scopus 로고
    • 13C NMR spectroscopy of lipids: a simple method for absolute quantitation
    • 13C NMR spectroscopy of lipids: a simple method for absolute quantitation. Anticancer Res 1996, 16:1479-1484.
    • (1996) Anticancer Res , vol.16 , pp. 1479-1484
    • Wary, C.1    Bloch, G.2    Jehenson, P.3    Carlier, P.G.4
  • 42
    • 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 1999, 22:1228-1233.
    • (1999) Muscle Nerve , vol.22 , pp. 1228-1233
    • Tarnopolsky, M.A.1    Parise, G.2
  • 45
    • 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 1984, 45:23-36.
    • (1984) Virchows Arch B Cell Pathol Incl Mol Pathol , vol.45 , pp. 23-36
    • Griffin, J.L.1
  • 48
    • 0023128851 scopus 로고
    • Phosphorus NMR spectroscopy study of muscular enzyme deficiencies involving glycogenolysis and glycolysis
    • Duboc D., Jehenson P., Tran Dinh S., Marsac C., Syrota A., Fardeau M. Phosphorus NMR spectroscopy study of muscular enzyme deficiencies involving glycogenolysis and glycolysis. Neurology 1987, 37:663-671.
    • (1987) Neurology , vol.37 , pp. 663-671
    • Duboc, D.1    Jehenson, P.2    Tran Dinh, S.3    Marsac, C.4    Syrota, A.5    Fardeau, M.6
  • 50
    • 0020405488 scopus 로고
    • 31P NMR studies of control of mitochondrial function in phosphofructokinase-deficient human skeletal muscle
    • 31P NMR studies of control of mitochondrial function in phosphofructokinase-deficient human skeletal muscle. Proc Natl Acad Sci USA 1982, 79:7714-7718.
    • (1982) Proc Natl Acad Sci USA , vol.79 , pp. 7714-7718
    • Chance, B.1    Eleff, S.2    Bank, W.3    Leigh, J.S.4    Warnell, R.5
  • 51
    • 0036079974 scopus 로고    scopus 로고
    • Glycogen and its metabolism
    • Roach P.J. Glycogen and its metabolism. Curr Mol Med 2002, 2:101-120.
    • (2002) Curr Mol Med , vol.2 , pp. 101-120
    • Roach, P.J.1
  • 53
    • 37649004558 scopus 로고    scopus 로고
    • Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo
    • Tagliabracci V.S., Turnbull J., Wang W., Girard J.M., Zhao X., Skurat A.V., et al. Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo. Proc Natl Acad Sci USA 2007, 104:19262-19266.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 19262-19266
    • Tagliabracci, V.S.1    Turnbull, J.2    Wang, W.3    Girard, J.M.4    Zhao, X.5    Skurat, A.V.6
  • 54
    • 0033822249 scopus 로고    scopus 로고
    • Insights into muscle diseases gained by phosphorus magnetic resonance spectroscopy
    • Argov Z., Lofberg M., Arnold D.L. Insights into muscle diseases gained by phosphorus magnetic resonance spectroscopy. Muscle Nerve 2000, 23:1316-1334.
    • (2000) Muscle Nerve , vol.23 , pp. 1316-1334
    • Argov, Z.1    Lofberg, M.2    Arnold, D.L.3
  • 55
    • 0029863576 scopus 로고    scopus 로고
    • Impairment of muscle mitochondrial oxidative metabolism in McArdles's disease
    • De Stefano N., Argov Z., Matthews P.M., Karpati G., Arnold D.L. Impairment of muscle mitochondrial oxidative metabolism in McArdles's disease. Muscle Nerve 1996, 19:764-769.
    • (1996) Muscle Nerve , vol.19 , pp. 764-769
    • De Stefano, N.1    Argov, Z.2    Matthews, P.M.3    Karpati, G.4    Arnold, D.L.5
  • 56
    • 0022339474 scopus 로고
    • Muscle fatigue in McArdle's disease studied by 31P-NMR: effect of glucose infusion
    • Lewis S.F., Haller R.G., Cook J.D., Nunnally R.L. Muscle fatigue in McArdle's disease studied by 31P-NMR: effect of glucose infusion. J Appl Physiol 1985, 59:1991-1994.
    • (1985) J Appl Physiol , vol.59 , pp. 1991-1994
    • Lewis, S.F.1    Haller, R.G.2    Cook, J.D.3    Nunnally, R.L.4
  • 57
    • 33751357206 scopus 로고    scopus 로고
    • Muscle blood flow and oxygenation measured by NMR imaging and spectroscopy
    • Carlier P.G., Bertoldi D., Baligand C., Wary C., Fromes Y. Muscle blood flow and oxygenation measured by NMR imaging and spectroscopy. NMR Biomed 2006, 19:954-967.
    • (2006) NMR Biomed , vol.19 , pp. 954-967
    • Carlier, P.G.1    Bertoldi, D.2    Baligand, C.3    Wary, C.4    Fromes, Y.5
  • 58
    • 77953453834 scopus 로고    scopus 로고
    • Glycogen storage disease type III presenting with secondary diabetes and managed with insulin: a case report
    • Ismail H. Glycogen storage disease type III presenting with secondary diabetes and managed with insulin: a case report. Cases J 2009, 2:6891.
    • (2009) Cases J , vol.2 , pp. 6891
    • Ismail, H.1


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