메뉴 건너뛰기




Volumn 38, Issue 3, 2015, Pages 551-563

Exercise in muscle glycogen storage diseases

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; GLYCOGEN;

EID: 84939992894     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9771-y     Document Type: Article
Times cited : (30)

References (85)
  • 1
    • 79961091187 scopus 로고    scopus 로고
    • 2011 compendium of physical activities: a second update of codes and MET values
    • PID: 21681120
    • Ainsworth BE, Haskell WL, Herrmann SD et al (2011) 2011 compendium of physical activities: a second update of codes and MET values. Med Sci Sports Exerc 43:1575–1581
    • (2011) Med Sci Sports Exerc , vol.43 , pp. 1575-1581
    • Ainsworth, B.E.1    Haskell, W.L.2    Herrmann, S.D.3
  • 2
    • 45149131139 scopus 로고    scopus 로고
    • Effect of oral sucrose shortly before exercise on work capacity in McArdle disease
    • PID: 18541798
    • Andersen ST, Haller RG, Vissing J (2008) Effect of oral sucrose shortly before exercise on work capacity in McArdle disease. Arch Neurol 65:786–789
    • (2008) Arch Neurol , vol.65 , pp. 786-789
    • Andersen, S.T.1    Haller, R.G.2    Vissing, J.3
  • 4
    • 0343621486 scopus 로고    scopus 로고
    • Limiting factors for maximum oxygen uptake and determinants of endurance performance
    • PID: 10647532
    • Bassett DR Jr, Howley ET (2000) Limiting factors for maximum oxygen uptake and determinants of endurance performance. Med Sci Sports Exerc 32:70–84
    • (2000) Med Sci Sports Exerc , vol.32 , pp. 70-84
    • Bassett, D.R.1    Howley, E.T.2
  • 5
    • 58149380149 scopus 로고    scopus 로고
    • Diagnosis of glycogenosis type II
    • COI: 1:CAS:528:DC%2BD1MXnsVOisw%3D%3D, PID: 19047572
    • Bembi B, Cerini E, Danesino C et al (2008) Diagnosis of glycogenosis type II. Neurology 71:S4–S11
    • (2008) Neurology , vol.71 , pp. 4-11
    • Bembi, B.1    Cerini, E.2    Danesino, C.3
  • 6
    • 0028922064 scopus 로고
    • Changes in physical fitness and all-cause mortality. a prospective study of healthy and unhealthy men
    • COI: 1:STN:280:DyaK2M3it1yhtw%3D%3D, PID: 7707596
    • Blair SN, Kohl HW III, Barlow CE, Paffenbarger RS Jr, Gibbons LW, Macera CA (1995) Changes in physical fitness and all-cause mortality. a prospective study of healthy and unhealthy men. JAMA 273:1093–1098
    • (1995) JAMA , vol.273 , pp. 1093-1098
    • Blair, S.N.1    Kohl, H.W.2    Barlow, C.E.3    Paffenbarger, R.S.4    Gibbons, L.W.5    Macera, C.A.6
  • 7
    • 0019979177 scopus 로고
    • Regulation of glycogenolysis in human muscle at rest and during exercise
    • COI: 1:CAS:528:DyaL38XltVOqtrs%3D, PID: 6813302
    • Chasiotis D, Sahlin K, Hultman E (1982) Regulation of glycogenolysis in human muscle at rest and during exercise. J Appl Physiol 53:708–715
    • (1982) J Appl Physiol , vol.53 , pp. 708-715
    • Chasiotis, D.1    Sahlin, K.2    Hultman, E.3
  • 8
    • 0022625320 scopus 로고
    • The ischemic exercise test in normal adults and in patients with weakness and cramps
    • COI: 1:STN:280:DyaL283gtlCitA%3D%3D, PID: 3702911
    • Coleman RA, Stajich JM, Pact VW, Pericak-Vance MA (1986) The ischemic exercise test in normal adults and in patients with weakness and cramps. Muscle Nerve 9:216–221
    • (1986) Muscle Nerve , vol.9 , pp. 216-221
    • Coleman, R.A.1    Stajich, J.M.2    Pact, V.W.3    Pericak-Vance, M.A.4
  • 9
    • 0027049711 scopus 로고
    • Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy
    • COI: 1:STN:280:DyaK383lsFSqtg%3D%3D, PID: 1580445
    • Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT (1992) Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med 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
  • 10
    • 33750602575 scopus 로고    scopus 로고
    • Purine and pyrimidine nucleotide metabolism
    • Devlin TM, (ed), Wiley-Liss, Hoboken
    • Cory JG (2006) Purine and pyrimidine nucleotide metabolism. In: Devlin TM (ed) Textbook of biochemistry: with clinical correlations. Wiley-Liss, Hoboken, pp 789–822
    • (2006) Textbook of biochemistry: with clinical correlations , pp. 789-822
    • Cory, J.G.1
  • 11
    • 0034947461 scopus 로고    scopus 로고
    • Muscle glycogenoses
    • COI: 1:CAS:528:DC%2BD3MXlvVemtb0%3D, PID: 11439374
    • DiMauro S, Lamperti C (2001) Muscle glycogenoses. Muscle Nerve 24:984–999
    • (2001) Muscle Nerve , vol.24 , pp. 984-999
    • DiMauro, S.1    Lamperti, C.2
  • 12
    • 0018423953 scopus 로고
    • Debrancher deficiency: neuromuscular disorder in 5 adults
    • COI: 1:STN:280:DyaE1M3jtVWltw%3D%3D, PID: 288318
    • DiMauro S, Hartwig GB, Hays A et al (1979) Debrancher deficiency: neuromuscular disorder in 5 adults. Ann Neurol 5:422–436
    • (1979) Ann Neurol , vol.5 , pp. 422-436
    • DiMauro, S.1    Hartwig, G.B.2    Hays, A.3
  • 13
    • 37049183458 scopus 로고
    • Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy
    • COI: 1:CAS:528:DyaL3MXktVClurw%3D, PID: 6262916
    • DiMauro S, Miranda AF, Khan S, Gitlin K, Friedman R (1981) Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. Science 212:1277–1279
    • (1981) Science , vol.212 , pp. 1277-1279
    • DiMauro, S.1    Miranda, A.F.2    Khan, S.3    Gitlin, K.4    Friedman, R.5
  • 14
    • 16444386608 scopus 로고    scopus 로고
    • Metabolic disorders affecting muscle
    • Engel AG, Franzini-Armstrong C, (eds), McGraw-Hill, New York
    • DiMauro S, Hays AP, Tsujino S (2004) Metabolic disorders affecting muscle. In: Engel AG, Franzini-Armstrong C (eds) Myology. McGraw-Hill, New York, pp 1535–1558
    • (2004) Myology , pp. 1535-1558
    • DiMauro, S.1    Hays, A.P.2    Tsujino, S.3
  • 15
    • 0025070103 scopus 로고
    • Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III
    • COI: 1:STN:280:DyaK3c7htF2gtg%3D%3D, PID: 2295969
    • Ding JH, De BT, De BT, Brown BI, Coleman RA, Chen YT (1990) Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. J Pediatr 116:95–100
    • (1990) J Pediatr , vol.116 , pp. 95-100
    • Ding, J.H.1    De, B.T.2    De, B.T.3    Brown, B.I.4    Coleman, R.A.5    Chen, Y.T.6
  • 16
    • 75149113953 scopus 로고    scopus 로고
    • Muscle phosphorylase b kinase deficiency revisited
    • PID: 20080404
    • Echaniz-Laguna A, Akman HO, Mohr M et al (2010) Muscle phosphorylase b kinase deficiency revisited. Neuromuscul Disord 20:125–127
    • (2010) Neuromuscul Disord , vol.20 , pp. 125-127
    • Echaniz-Laguna, A.1    Akman, H.O.2    Mohr, M.3
  • 17
    • 0026065196 scopus 로고
    • Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency
    • COI: 1:STN:280:DyaK3M7gtFKksg%3D%3D, PID: 1824792
    • Haller RG, Lewis SF (1991) Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. N Engl J Med 324:364–369
    • (1991) N Engl J Med , vol.324 , pp. 364-369
    • Haller, R.G.1    Lewis, S.F.2
  • 18
    • 0036716959 scopus 로고    scopus 로고
    • Spontaneous “second wind” and glucose-induced second “second wind” in McArdle disease: oxidative mechanisms
    • PID: 12223025
    • Haller RG, Vissing J (2002) Spontaneous “second wind” and glucose-induced second “second wind” in McArdle disease: oxidative mechanisms. Arch Neurol 59:1395–1402
    • (2002) Arch Neurol , vol.59 , pp. 1395-1402
    • Haller, R.G.1    Vissing, J.2
  • 19
    • 16444373335 scopus 로고    scopus 로고
    • Functional evaluation of metabolic myopathies
    • Engel AG, Franzini-Armstrong C, (eds), McGraw-Hill, New York
    • Haller RG, Vissing J (2004a) Functional evaluation of metabolic myopathies. In: Engel AG, Franzini-Armstrong C (eds) Myology. McGraw-Hill, New York, pp 665–679
    • (2004) Myology , pp. 665-679
    • Haller, R.G.1    Vissing, J.2
  • 20
    • 0347722567 scopus 로고    scopus 로고
    • No spontaneous second wind in muscle phosphofructokinase deficiency
    • COI: 1:CAS:528:DC%2BD3sXhtVWjtrrE, PID: 14718702
    • Haller RG, Vissing J (2004b) No spontaneous second wind in muscle phosphofructokinase deficiency. Neurology 62:82–86
    • (2004) Neurology , vol.62 , pp. 82-86
    • Haller, R.G.1    Vissing, J.2
  • 21
    • 0021947116 scopus 로고
    • Myophosphorylase deficiency impairs muscle oxidative metabolism
    • COI: 1:STN:280:DyaL2M7kslKjtw%3D%3D, PID: 3856415
    • Haller RG, Lewis SF, Cook JD, Blomqvist CG (1985) Myophosphorylase deficiency impairs muscle oxidative metabolism. Ann Neurol 17:196–199
    • (1985) Ann Neurol , vol.17 , pp. 196-199
    • Haller, R.G.1    Lewis, S.F.2    Cook, J.D.3    Blomqvist, C.G.4
  • 22
    • 33744797628 scopus 로고    scopus 로고
    • Aerobic conditioning: an effective therapy in McArdle’s disease
    • PID: 16718692
    • Haller RG, Wyrick P, Taivassalo T, Vissing J (2006) Aerobic conditioning: an effective therapy in McArdle’s disease. Ann Neurol 59:922–928
    • (2006) Ann Neurol , vol.59 , pp. 922-928
    • Haller, R.G.1    Wyrick, P.2    Taivassalo, T.3    Vissing, J.4
  • 23
    • 47949128454 scopus 로고    scopus 로고
    • Carbohydrate metabolism I: major metabolic pathways and their control
    • Devlin TM, (ed), Wiley-Liss, New York
    • Harris RA (2006) Carbohydrate metabolism I: major metabolic pathways and their control. In: Devlin TM (ed) Textbook of biochemistry with clinical correlations. Wiley-Liss, New York, pp 581–635
    • (2006) Textbook of biochemistry with clinical correlations , pp. 581-635
    • Harris, R.A.1
  • 25
    • 0014143206 scopus 로고
    • Muscle glycogen during prolonged severe exercise
    • COI: 1:CAS:528:DyaF1cXhtV2ltw%3D%3D, PID: 5584522
    • Hermansen L, Hultman E, Saltin B (1967) Muscle glycogen during prolonged severe exercise. Acta Physiol Scand 71:129–139
    • (1967) Acta Physiol Scand , vol.71 , pp. 129-139
    • Hermansen, L.1    Hultman, E.2    Saltin, B.3
  • 26
    • 73649187940 scopus 로고
    • alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe’s disease)
    • COI: 1:CAS:528:DyaF3sXkvVOitg%3D%3D, PID: 13954110
    • Hers HG (1963) alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe’s disease). Biochem J 86:11–16
    • (1963) Biochem J , vol.86 , pp. 11-16
    • Hers, H.G.1
  • 27
    • 0035954322 scopus 로고    scopus 로고
    • A non-ischemic forearm exercise test for the screening of patients with exercise intolerance
    • COI: 1:STN:280:DC%2BD3MzmsFejtA%3D%3D, PID: 11425942
    • Hogrel JY, Laforet P, Ben YR, Chevrot M, Eymard B, Lombes A (2001) A non-ischemic forearm exercise test for the screening of patients with exercise intolerance. Neurology 56:1733–1738
    • (2001) Neurology , vol.56 , pp. 1733-1738
    • Hogrel, J.Y.1    Laforet, P.2    Ben, Y.R.3    Chevrot, M.4    Eymard, B.5    Lombes, A.6
  • 29
    • 77955155274 scopus 로고    scopus 로고
    • Glycogen storage disease type III diagnosis and management guidelines
    • COI: 1:CAS:528:DC%2BC3cXovFersr8%3D, PID: 20631546
    • Kishnani PS, Austin SL, Arn P et al (2010) Glycogen storage disease type III diagnosis and management guidelines. Genet Med 12:446–463
    • (2010) Genet Med , vol.12 , pp. 446-463
    • Kishnani, P.S.1    Austin, S.L.2    Arn, P.3
  • 30
    • 84867895730 scopus 로고    scopus 로고
    • The glycogen storage diseases and related disorders
    • Saudubray JM, Berghe G, Walter JH, (eds), Springer, Berlin Heidelberg
    • Laforet P, Weinstein DA, Smit PA (2012) The glycogen storage diseases and related disorders. In: Saudubray JM, van den Berghe G, Walter JH (eds) Inborn metabolic diseases. Springer, Berlin Heidelberg, pp 115–139
    • (2012) Inborn metabolic diseases , pp. 115-139
    • Laforet, P.1    Weinstein, D.A.2    Smit, P.A.3
  • 31
    • 0026032744 scopus 로고
    • Abnormal oxidative metabolism and O2 transport in muscle phosphofructokinase deficiency
    • COI: 1:CAS:528:DyaK3MXisVGnur4%3D, PID: 1826293
    • Lewis SF, Vora S, Haller RG (1991) Abnormal oxidative metabolism and O2 transport in muscle phosphofructokinase deficiency. J Appl Physiol 70:391–398
    • (1991) J Appl Physiol , vol.70 , pp. 391-398
    • Lewis, S.F.1    Vora, S.2    Haller, R.G.3
  • 33
    • 84857050712 scopus 로고    scopus 로고
    • Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry
    • PID: 22250184
    • Lucia A, Ruiz JR, Santalla A et al (2012) Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. J Neurol Neurosurg Psychiatry 83:322–328
    • (2012) J Neurol Neurosurg Psychiatry , vol.83 , pp. 322-328
    • Lucia, A.1    Ruiz, J.R.2    Santalla, A.3
  • 34
    • 84870042338 scopus 로고    scopus 로고
    • Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy
    • PID: 23182645, S230-S234
    • Marzorati M, Porcelli S, Bellistri G, Morandi L, Grassi B (2012) Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy. Neuromuscul Disord 22(3):S230–S234. doi:10.1016/j.nmd.2012.10.017, S230-S234
    • (2012) Neuromuscul Disord , vol.22 , Issue.3 , pp. 230-234
    • Marzorati, M.1    Porcelli, S.2    Bellistri, G.3    Morandi, L.4    Grassi, B.5
  • 35
    • 34447336686 scopus 로고    scopus 로고
    • Favorable responses to acute and chronic exercise in McArdle patients
    • PID: 17620784
    • Mate-Munoz JL, Moran M, Perez M et al (2007) Favorable responses to acute and chronic exercise in McArdle patients. Clin J Sport Med 17:297–303
    • (2007) Clin J Sport Med , vol.17 , pp. 297-303
    • Mate-Munoz, J.L.1    Moran, M.2    Perez, M.3
  • 36
    • 0014857215 scopus 로고
    • The relative activities attributable to the three phosphoglucomutase loci (PGM1, PGM2, PGM3) in human tissues
    • COI: 1:STN:280:DyaE3M%2Fot1SmtQ%3D%3D, PID: 5493845
    • McAlpine PJ, Hopkinson DA, Harris H (1970) The relative activities attributable to the three phosphoglucomutase loci (PGM1, PGM2, PGM3) in human tissues. Ann Hum Genet 34:169–175
    • (1970) Ann Hum Genet , vol.34 , pp. 169-175
    • McAlpine, P.J.1    Hopkinson, D.A.2    Harris, H.3
  • 38
    • 79952578529 scopus 로고    scopus 로고
    • Individual differences and measurement of energy capacities
    • McArdle WD, Katch FI, Katch VL, (eds), Lippincott Williams & Wilkins, Baltimore
    • McArdle WD, Katch FI, Katch VL (2007b) Individual differences and measurement of energy capacities. In: McArdle WD, Katch FI, Katch VL (eds) Exercise physiology: energy, nutrition & human performance. Lippincott Williams & Wilkins, Baltimore, pp 229–253
    • (2007) Exercise physiology: energy, nutrition & human performance , pp. 229-253
    • McArdle, W.D.1    Katch, F.I.2    Katch, V.L.3
  • 42
    • 0036083007 scopus 로고    scopus 로고
    • Phosphofructokinase deficiency; past, present and future
    • COI: 1:CAS:528:DC%2BD38XivVaqt7c%3D, PID: 11949936
    • Nakajima H, Raben N, Hamaguchi T, Yamasaki T (2002) Phosphofructokinase deficiency; past, present and future. Curr Mol Med 2:197–212
    • (2002) Curr Mol Med , vol.2 , pp. 197-212
    • Nakajima, H.1    Raben, N.2    Hamaguchi, T.3    Yamasaki, T.4
  • 43
    • 84867898819 scopus 로고    scopus 로고
    • Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease
    • COI: 1:CAS:528:DC%2BC38XhsVKgs73F, PID: 23041258
    • Nilsson MI, Samjoo IA, Hettinga BP et al (2012) Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease. Mol Genet Metab 107:469–479
    • (2012) Mol Genet Metab , vol.107 , pp. 469-479
    • Nilsson, M.I.1    Samjoo, I.A.2    Hettinga, B.P.3
  • 44
    • 33750430315 scopus 로고    scopus 로고
    • Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency
    • COI: 1:CAS:528:DC%2BD28Xht1Cms7vL, PID: 16881065
    • Oh SJ, Park KS, Ryan HF Jr, Danon MJ, Lu J, Naini AB, DiMauro S (2006) Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency. Muscle Nerve 34:572–576
    • (2006) Muscle Nerve , vol.34 , pp. 572-576
    • Oh, S.J.1    Park, K.S.2    Ryan, H.F.3    Danon, M.J.4    Lu, J.5    Naini, A.B.6    DiMauro, S.7
  • 46
    • 17744374969 scopus 로고    scopus 로고
    • Exercise tolerance and daily life in McArdle’s disease
    • PID: 15614801
    • Ollivier K, Hogrel JY, Gomez-Merino D et al (2005b) Exercise tolerance and daily life in McArdle’s disease. Muscle Nerve 31:637–641
    • (2005) Muscle Nerve , vol.31 , pp. 637-641
    • Ollivier, K.1    Hogrel, J.Y.2    Gomez-Merino, D.3
  • 47
    • 0028801988 scopus 로고
    • Glucose infusion paradoxically accelerates degradation of adenine nucleotide in working muscle of patients with glycogen storage disease type VII
    • COI: 1:CAS:528:DyaK2MXktlWqtL8%3D, PID: 7824108
    • Ono A, Kuwajima M, Kono N et al (1995) Glucose infusion paradoxically accelerates degradation of adenine nucleotide in working muscle of patients with glycogen storage disease type VII. Neurology 45:161–164
    • (1995) Neurology , vol.45 , pp. 161-164
    • Ono, A.1    Kuwajima, M.2    Kono, N.3
  • 48
    • 43649099538 scopus 로고    scopus 로고
    • Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
    • COI: 1:CAS:528:DC%2BD1cXlsV2rtrk%3D, PID: 18401027
    • Orngreen MC, Schelhaas HJ, Jeppesen TD et al (2008) Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology 70:1876–1882
    • (2008) Neurology , vol.70 , pp. 1876-1882
    • Orngreen, M.C.1    Schelhaas, H.J.2    Jeppesen, T.D.3
  • 49
    • 62349140263 scopus 로고    scopus 로고
    • Fat metabolism during exercise in patients with McArdle disease
    • COI: 1:STN:280:DC%2BD1M7mtFGqtw%3D%3D, PID: 19237700
    • Orngreen MC, Jeppesen TD, Andersen ST et al (2009) Fat metabolism during exercise in patients with McArdle disease. Neurology 72:718–724
    • (2009) Neurology , vol.72 , pp. 718-724
    • Orngreen, M.C.1    Jeppesen, T.D.2    Andersen, S.T.3
  • 50
    • 0005463427 scopus 로고
    • A metabolic myopathy due to absence of muscle phosphorylase
    • COI: 1:STN:280:DyaF3c%2FltlChsA%3D%3D, PID: 13733779
    • Pearson CM, Rimer DG, Mommaerts WF (1961) A metabolic myopathy due to absence of muscle phosphorylase. Am J Med 30:502–517
    • (1961) Am J Med , vol.30 , pp. 502-517
    • Pearson, C.M.1    Rimer, D.G.2    Mommaerts, W.F.3
  • 51
    • 33645096520 scopus 로고    scopus 로고
    • Evidence for prescribing exercise as therapy in chronic disease
    • PID: 16451303
    • Pedersen BK, Saltin B (2006) Evidence for prescribing exercise as therapy in chronic disease. Scand J Med Sci Sports 16(1):3–63
    • (2006) Scand J Med Sci Sports , vol.16 , Issue.1 , pp. 3-63
    • Pedersen, B.K.1    Saltin, B.2
  • 52
    • 84877758448 scopus 로고    scopus 로고
    • A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene
    • PID: 22976764
    • Perez B, Medrano C, Ecay MJ, Ruiz-Sala P, Martinez-Pardo M, Ugarte M, Perez-Cerda C (2013) A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. J Inherit Metab Dis 36:535–542
    • (2013) J Inherit Metab Dis , vol.36 , pp. 535-542
    • Perez, B.1    Medrano, C.2    Ecay, M.J.3    Ruiz-Sala, P.4    Martinez-Pardo, M.5    Ugarte, M.6    Perez-Cerda, C.7
  • 53
    • 0026128307 scopus 로고
    • Table of nonprotein respiratory quotient: an update
    • COI: 1:CAS:528:DyaK38XlvVyqtLY%3D, PID: 1645211
    • Peronnet F, Massicotte D (1991) Table of nonprotein respiratory quotient: an update. Can J Sport Sci 16:23–29
    • (1991) Can J Sport Sci , vol.16 , pp. 23-29
    • Peronnet, F.1    Massicotte, D.2
  • 54
    • 84867902106 scopus 로고    scopus 로고
    • Fat and carbohydrate metabolism during exercise in late-onset Pompe disease
    • COI: 1:CAS:528:DC%2BC38XhtlGqt7zM, PID: 22981821
    • Preisler N, Laforet P, Madsen KL et al (2012a) Fat and carbohydrate metabolism during exercise in late-onset Pompe disease. Mol Genet Metab 107:462–468
    • (2012) Mol Genet Metab , vol.107 , pp. 462-468
    • Preisler, N.1    Laforet, P.2    Madsen, K.L.3
  • 55
    • 84857711328 scopus 로고    scopus 로고
    • Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
    • COI: 1:CAS:528:DC%2BC38XhtlSquro%3D, PID: 22238410
    • Preisler N, Orngreen MC, Echaniz-Laguna A et al (2012b) Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? Neurology 78:265–268
    • (2012) Neurology , vol.78 , pp. 265-268
    • Preisler, N.1    Orngreen, M.C.2    Echaniz-Laguna, A.3
  • 56
    • 84879927138 scopus 로고    scopus 로고
    • Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency
    • COI: 1:CAS:528:DC%2BC3sXhtFChsrrO, PID: 23780368
    • Preisler N, Laforet P, Echaniz-Laguna A (2013a) Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency. J Clin Endocrinol Metab 98:E1235–E1240
    • (2013) J Clin Endocrinol Metab , vol.98 , pp. 1235-1240
    • Preisler, N.1    Laforet, P.2    Echaniz-Laguna, A.3
  • 57
    • 84876070481 scopus 로고    scopus 로고
    • Exercise intolerance in glycogen storage disease type III: weakness or energy deficiency?
    • COI: 1:CAS:528:DC%2BC3sXkt1Kgsrk%3D, PID: 23507172
    • Preisler N, Pradel A, Husu E et al (2013b) Exercise intolerance in glycogen storage disease type III: weakness or energy deficiency? Mol Genet Metab 109:14–20
    • (2013) Mol Genet Metab , vol.109 , pp. 14-20
    • Preisler, N.1    Pradel, A.2    Husu, E.3
  • 59
    • 84880949120 scopus 로고    scopus 로고
    • Exercise, GLUT4, and skeletal muscle glucose uptake
    • COI: 1:CAS:528:DC%2BC3sXhsVekurfP, PID: 23899560
    • Richter EA, Hargreaves M (2013) Exercise, GLUT4, and skeletal muscle glucose uptake. Physiol Rev 93:993–1017
    • (2013) Physiol Rev , vol.93 , pp. 993-1017
    • Richter, E.A.1    Hargreaves, M.2
  • 60
    • 67649432613 scopus 로고    scopus 로고
    • American college of sports medicine position stand. nutrition and athletic performance
    • PID: 19225360
    • Rodriguez NR, Di Marco NM, Langley S (2009) American college of sports medicine position stand. nutrition and athletic performance. Med Sci Sports Exerc 41:709–731
    • (2009) Med Sci Sports Exerc , vol.41 , pp. 709-731
    • Rodriguez, N.R.1    Di Marco, N.M.2    Langley, S.3
  • 61
    • 84901947673 scopus 로고    scopus 로고
    • Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease
    • PID: 24844452
    • Sacconi S, Wahbi K, Theodore G et al (2014) Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease. Neuromuscul Disord 24:648–650
    • (2014) Neuromuscul Disord , vol.24 , pp. 648-650
    • Sacconi, S.1    Wahbi, K.2    Theodore, G.3
  • 62
    • 0023739286 scopus 로고
    • Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene family
    • COI: 1:CAS:528:DyaL1MXhsVyqtb8%3D, PID: 2846553
    • Sakoda S, Shanske S, DiMauro S, Schon EA (1988) Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene family. J Biol Chem 263:16899–16905
    • (1988) J Biol Chem , vol.263 , pp. 16899-16905
    • Sakoda, S.1    Shanske, S.2    DiMauro, S.3    Schon, E.A.4
  • 63
    • 0023232413 scopus 로고
    • Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase
    • COI: 1:CAS:528:DyaL1cXmvF2htA%3D%3D, PID: 2822696
    • Shanske S, Sakoda S, Hermodson MA, DiMauro S, Schon EA (1987) Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase. J Biol Chem 262:14612–14617
    • (1987) J Biol Chem , vol.262 , pp. 14612-14617
    • Shanske, S.1    Sakoda, S.2    Hermodson, M.A.3    DiMauro, S.4    Schon, E.A.5
  • 64
    • 33845992187 scopus 로고    scopus 로고
    • Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy
    • COI: 1:CAS:528:DC%2BD2sXhsVOntL8%3D, PID: 17022069
    • Slonim AE, Bulone L, Goldberg T et al (2007) Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy. Muscle Nerve 35:70–77
    • (2007) Muscle Nerve , vol.35 , pp. 70-77
    • Slonim, A.E.1    Bulone, L.2    Goldberg, T.3
  • 66
    • 22144476546 scopus 로고    scopus 로고
    • Metabolic consequences of muscle disuse atrophy
    • COI: 1:CAS:528:DC%2BD2MXmtF2kt74%3D, PID: 15987873
    • Stein TP, Wade CE (2005) Metabolic consequences of muscle disuse atrophy. J Nutr 135:1824S–1828S
    • (2005) J Nutr , vol.135 , pp. 1824-1828
    • Stein, T.P.1    Wade, C.E.2
  • 67
    • 67651163687 scopus 로고    scopus 로고
    • Muscle glycogenosis due to phosphoglucomutase 1 deficiency
    • COI: 1:CAS:528:DC%2BD1MXovFyksb4%3D, PID: 19625727
    • Stojkovic T, Vissing J, Petit F et al (2009) Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N Engl J Med 361:425–427
    • (2009) N Engl J Med , vol.361 , pp. 425-427
    • Stojkovic, T.1    Vissing, J.2    Petit, F.3
  • 68
    • 84939945147 scopus 로고    scopus 로고
    • Straub V (2008) Diagnosis. In Pompe Disease pp. 47-58. UNI-MED Verlag AG, D-28323 Bremen
    • Straub V (2008) Diagnosis. In Pompe Disease pp. 47-58. UNI-MED Verlag AG, D-28323 Bremen
  • 69
    • 74849085443 scopus 로고    scopus 로고
    • Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial
    • COI: 1:CAS:528:DC%2BC3cXjsVShuw%3D%3D, PID: 19649685
    • Strothotte S, Strigl-Pill N, Grunert B et al (2010) Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol 257:91–97
    • (2010) J Neurol , vol.257 , pp. 91-97
    • Strothotte, S.1    Strigl-Pill, N.2    Grunert, B.3
  • 70
    • 84893589222 scopus 로고    scopus 로고
    • Multiple phenotypes in phosphoglucomutase 1 deficiency
    • COI: 1:CAS:528:DC%2BC2cXisFaktLY%3D, PID: 24499211
    • Tegtmeyer LC, Rust S, Van SM (2014) Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med 370:533–542
    • (2014) N Engl J Med , vol.370 , pp. 533-542
    • Tegtmeyer, L.C.1    Rust, S.2    Van, S.M.3
  • 71
    • 82455162510 scopus 로고    scopus 로고
    • Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy
    • COI: 1:CAS:528:DC%2BC3MXhtl2rt7nF, PID: 21640624
    • Terzis G, Dimopoulos F, Papadimas GK et al (2011) Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab 104:279–283
    • (2011) Mol Genet Metab , vol.104 , pp. 279-283
    • Terzis, G.1    Dimopoulos, F.2    Papadimas, G.K.3
  • 72
    • 84869872640 scopus 로고    scopus 로고
    • Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy
    • COI: 1:CAS:528:DC%2BC38Xhs1Kls7rO, PID: 23146291
    • Terzis G, Krase A, Papadimas G, Papadopoulos C, Kavouras SA, Manta P (2012) Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab 107:669–673
    • (2012) Mol Genet Metab , vol.107 , pp. 669-673
    • Terzis, G.1    Krase, A.2    Papadimas, G.3    Papadopoulos, C.4    Kavouras, S.A.5    Manta, P.6
  • 74
    • 84939974961 scopus 로고    scopus 로고
    • The musculoskeletal system in Pompe disease: pathology
    • Dissertation, Erasmus Universiteit Rotterdam
    • van den Berg LE (2014). The musculoskeletal system in Pompe disease: pathology, consequences and treatment options. Dissertation, Erasmus Universiteit Rotterdam.
    • (2014) consequences and treatment options
    • van den Berg, L.E.1
  • 75
    • 53449093327 scopus 로고    scopus 로고
    • Pompe’s disease
    • PID: 18929906
    • van der Ploeg AT, Reuser AJ (2008) Pompe’s disease. Lancet 372:1342–1353
    • (2008) Lancet , vol.372 , pp. 1342-1353
    • van der Ploeg, A.T.1    Reuser, A.J.2
  • 76
    • 77950963839 scopus 로고    scopus 로고
    • A randomized study of alglucosidase alfa in late-onset Pompe’s disease
    • PID: 20393176
    • van der Ploeg AT, Clemens PR, Corzo D et al (2010) A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med 362:1396–1406
    • (2010) N Engl J Med , vol.362 , pp. 1396-1406
    • van der Ploeg, A.T.1    Clemens, P.R.2    Corzo, D.3
  • 77
    • 84867899868 scopus 로고    scopus 로고
    • Open-label extension study following the late-onset treatment study (LOTS) of alglucosidase alfa
    • PID: 23031366
    • van der Ploeg AT, Barohn R, Carlson L et al (2012) Open-label extension study following the late-onset treatment study (LOTS) of alglucosidase alfa. Mol Genet Metab 107:456–461
    • (2012) Mol Genet Metab , vol.107 , pp. 456-461
    • van der Ploeg, A.T.1    Barohn, R.2    Carlson, L.3
  • 78
    • 0014140342 scopus 로고
    • The subgroups of type 3 glycogenosis
    • PID: 5235982
    • van Hoof F, Hers HG (1967) The subgroups of type 3 glycogenosis. Eur J Biochem 2:265–270
    • (1967) Eur J Biochem , vol.2 , pp. 265-270
    • van Hoof, F.1    Hers, H.G.2
  • 80
    • 0347517831 scopus 로고    scopus 로고
    • The effect of oral sucrose on exercise tolerance in patients with McArdle’s disease
    • COI: 1:CAS:528:DC%2BD3sXhtVWit7jP, PID: 14695410
    • Vissing J, Haller RG (2003) The effect of oral sucrose on exercise tolerance in patients with McArdle’s disease. N Engl J Med 349:2503–2509
    • (2003) N Engl J Med , vol.349 , pp. 2503-2509
    • Vissing, J.1    Haller, R.G.2
  • 81
    • 84995584018 scopus 로고    scopus 로고
    • Metabolic myopathies
    • Hilton-Jones D, Turner MR, (eds), Oxford University Press, Oxford
    • Vissing J, Orngreen M (2014) Metabolic myopathies. In: Hilton-Jones D, Turner MR (eds) Oxford texbook of neuromuscular disorders. Oxford University Press, Oxford, pp 288–301
    • (2014) Oxford texbook of neuromuscular disorders , pp. 288-301
    • Vissing, J.1    Orngreen, M.2
  • 82
    • 0029837896 scopus 로고    scopus 로고
    • Paradoxically enhanced glucose production during exercise in humans with blocked glycolysis caused by muscle phosphofructokinase deficiency
    • COI: 1:CAS:528:DyaK28XmtFWisbY%3D, PID: 8797477
    • Vissing J, Galbo H, Haller RG (1996) Paradoxically enhanced glucose production during exercise in humans with blocked glycolysis caused by muscle phosphofructokinase deficiency. Neurology 47:766–771
    • (1996) Neurology , vol.47 , pp. 766-771
    • Vissing, J.1    Galbo, H.2    Haller, R.G.3
  • 83
    • 25144492102 scopus 로고    scopus 로고
    • Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency
    • PID: 16157752
    • Vissing J, Quistorff B, Haller RG (2005) Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency. Arch Neurol 62:1440–1443
    • (2005) Arch Neurol , vol.62 , pp. 1440-1443
    • Vissing, J.1    Quistorff, B.2    Haller, R.G.3
  • 85
    • 12944268373 scopus 로고    scopus 로고
    • Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene
    • PID: 15637709
    • Wuyts W, Reyniers E, Ceuterick C, Storm K, De BT, Martin JJ (2005) Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. Am J Med Genet A 133A:82–84
    • (2005) Am J Med Genet A , vol.133A , pp. 82-84
    • Wuyts, W.1    Reyniers, E.2    Ceuterick, C.3    Storm, K.4    De, B.T.5    Martin, J.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.