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Volumn 36, Issue 5, 2013, Pages 787-794

Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE;

EID: 84884351695     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9541-7     Document Type: Article
Times cited : (16)

References (36)
  • 1
    • 0018832608 scopus 로고
    • Muscle fiber types and morphometric analysis of skeletal msucle in six-year-old children
    • 7392899 1:STN:280:DyaL3c3jtFKqsw%3D%3D
    • Bell RD, MacDougall JD, Billeter R, Howald H (1980) Muscle fiber types and morphometric analysis of skeletal msucle in six-year-old children. Med Sci Sports Exerc 12:28-31
    • (1980) Med Sci Sports Exerc , vol.12 , pp. 28-31
    • Bell, R.D.1    Macdougall, J.D.2    Billeter, R.3    Howald, H.4
  • 2
    • 38949085465 scopus 로고    scopus 로고
    • Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease
    • 17894362 10.1002/mus.20896
    • Drost MR, Schaart G, van Dijk P, et al. (2008) Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease. Muscle Nerve 37:251-255
    • (2008) Muscle Nerve , vol.37 , pp. 251-255
    • Drost, M.R.1    Schaart, G.2    Van Dijk, P.3
  • 4
    • 0018537540 scopus 로고
    • The comparative utility of serum creatine kinase versus serum aldolase in the evaluation of muscle disorders
    • 389542 1:STN:280:DyaL3c%2FmvVWitw%3D%3D
    • Giesker D, Bowers GN Jr (1979) The comparative utility of serum creatine kinase versus serum aldolase in the evaluation of muscle disorders. Conn Med 43:699-704
    • (1979) Conn Med , vol.43 , pp. 699-704
    • Giesker, D.1    Bowers, Jr.G.N.2
  • 5
    • 0141882603 scopus 로고    scopus 로고
    • Characteristics of myofibres in the masseter muscle of mice during postnatal growth period
    • 12047246 10.1046/j.1439-0264.2002.00368.x 1:STN:280: DC%2BD38zgsVKhtg%3D%3D
    • Gojo K, Abe S, Ide Y (2002) Characteristics of myofibres in the masseter muscle of mice during postnatal growth period. Anat Histol Embryol 31:105-112
    • (2002) Anat Histol Embryol , vol.31 , pp. 105-112
    • Gojo, K.1    Abe, S.2    Ide, Y.3
  • 6
    • 0021347933 scopus 로고
    • Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture
    • 6199885 10.1007/BF02889849 1:CAS:528:DyaL2cXhsFCru7k%3D
    • Griffin JL (1984) Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture. Virchows Arch B Cell Pathol Incl Mol Pathol 45:23-36
    • (1984) Virchows Arch B Cell Pathol Incl Mol Pathol , vol.45 , pp. 23-36
    • Griffin, J.L.1
  • 7
    • 0021350098 scopus 로고
    • Is there a change in relative muscle fibre composition with age?
    • 6539189 10.1111/j.1475-097X.1984.tb00235.x 1:STN:280:DyaL2c3gs1Clsg%3D%3D
    • Grimby G, Aniansson A, Zetterberg C, Saltin B (1984) Is there a change in relative muscle fibre composition with age? Clin Physiol 4:189-194
    • (1984) Clin Physiol , vol.4 , pp. 189-194
    • Grimby, G.1    Aniansson, A.2    Zetterberg, C.3    Saltin, B.4
  • 8
    • 0347579841 scopus 로고    scopus 로고
    • Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II
    • 12633905 10.1016/S0925-4439(02)00229-6 1:CAS:528:DC%2BD3sXhvFeqtL0%3D
    • Hesselink RP, Wagenmakers AJ, Drost MR, Van der Vusse GJ (2003) Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II. Biochim Biophys Acta 1637:164-170
    • (2003) Biochim Biophys Acta , vol.1637 , pp. 164-170
    • Hesselink, R.P.1    Wagenmakers, A.J.2    Drost, M.R.3    Van Der Vusse, G.J.4
  • 9
    • 0000995321 scopus 로고    scopus 로고
    • Glycogen storage disease type II: Acid alpha-glucosidase (Acid Maltase) deficiency
    • Scriver CR, Beaudet AL, Sly WS, Valle MD (eds) Mc Graw-Hill
    • Hirschorn R, Reuser A (2001) Glycogen storage disease type II: acid alpha-glucosidase (Acid Maltase) deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle MD (eds) The metabolic and molecular bases of inherited disease. Mc Graw-Hill, pp 3389-3420
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3389-3420
    • Hirschorn, R.1    Reuser, A.2
  • 10
    • 70350448214 scopus 로고    scopus 로고
    • Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease
    • 19542901 10.1203/PDR.0b013e3181b24e94 1:CAS:528:DC%2BD1MXpsFygtrw%3D
    • Kishnani PS, Corzo D, Leslie ND, et al. (2009) Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res 66:329-335
    • (2009) Pediatr Res , vol.66 , pp. 329-335
    • Kishnani, P.S.1    Corzo, D.2    Leslie, N.D.3
  • 11
    • 33846033132 scopus 로고    scopus 로고
    • Recombinant human acid [alpha]-glucosidase: Major clinical benefits in infantile-onset Pompe disease
    • 17151339 10.1212/01.wnl.0000251268.41188.04 1:CAS:528:DC%2BD2sXosFSg
    • Kishnani PS, Corzo D, Nicolino M, et al. (2007) Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 68:99-109
    • (2007) Neurology , vol.68 , pp. 99-109
    • Kishnani, P.S.1    Corzo, D.2    Nicolino, M.3
  • 12
    • 33646830132 scopus 로고    scopus 로고
    • A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
    • Infantile-Onset Pompe Disease Natural History Study Group 16737883 10.1016/j.jpeds.2005.11.033
    • Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D, Infantile-Onset Pompe Disease Natural History Study Group (2006) A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 148:671-676
    • (2006) J Pediatr , vol.148 , pp. 671-676
    • Kishnani, P.S.1    Hwu, W.L.2    Mandel, H.3    Nicolino, M.4    Yong, F.5    Corzo, D.6
  • 14
    • 0024420189 scopus 로고
    • The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus
    • 2803071 10.1001/archneur.1989.00520460115022 1:STN:280: DyaK3c%2FisF2jtA%3D%3D
    • Krupp LB, LaRocca NG, Muir-Nash J, Steinberg AD (1989) The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol 46:1121-1123
    • (1989) Arch Neurol , vol.46 , pp. 1121-1123
    • Krupp, L.B.1    Larocca, N.G.2    Muir-Nash, J.3    Steinberg, A.D.4
  • 15
    • 0028863055 scopus 로고
    • Human aging, muscle mass, and fiber type composition
    • Spec No: 11-16
    • Lexell J (1995) Human aging, muscle mass, and fiber type composition. J Gerontol A Biol Sci Med Sci 50 Spec No: 11-16
    • (1995) J Gerontol A Biol Sci Med Sci , vol.50
    • Lexell, J.1
  • 16
    • 0023856536 scopus 로고
    • What is the cause of the ageing atrophy? Total number, size and proportion of different fiber types studied in whole vastus lateralis muscle from 15- to 83-year-old men
    • 3379447 10.1016/0022-510X(88)90132-3 1:STN:280:DyaL1c3ksVOltA%3D%3D
    • Lexell J, Taylor CC, Sjostrom M (1988) What is the cause of the ageing atrophy? Total number, size and proportion of different fiber types studied in whole vastus lateralis muscle from 15- to 83-year-old men. J Neurol Sci 84:275-294
    • (1988) J Neurol Sci , vol.84 , pp. 275-294
    • Lexell, J.1    Taylor, C.C.2    Sjostrom, M.3
  • 17
    • 34548432590 scopus 로고    scopus 로고
    • Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
    • 17643989 10.1016/j.nmd.2007.06.002
    • Muller-Felber W, Horvath R, Gempel K, et al. (2007) Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 17:698-706
    • (2007) Neuromuscul Disord , vol.17 , pp. 698-706
    • Muller-Felber, W.1    Horvath, R.2    Gempel, K.3
  • 18
    • 0142089744 scopus 로고    scopus 로고
    • Enzyme replacement therapy in the mouse model of Pompe disease
    • 14567965 10.1016/j.ymgme.2003.08.022 1:CAS:528:DC%2BD3sXotVChtr0%3D
    • Raben N, Danon M, Gilbert AL, et al. (2003) Enzyme replacement therapy in the mouse model of Pompe disease. Mol Genet Metab 80:159-169
    • (2003) Mol Genet Metab , vol.80 , pp. 159-169
    • Raben, N.1    Danon, M.2    Gilbert, A.L.3
  • 19
    • 19944383100 scopus 로고    scopus 로고
    • Replacing acid alpha-glucosidase in Pompe disease: Recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers
    • 15585405 10.1016/j.ymthe.2004.09.017 1:CAS:528:DC%2BD2cXhtVCls7rM
    • Raben N, Fukuda T, Gilbert AL, et al. (2005) Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 11:48-56
    • (2005) Mol Ther , vol.11 , pp. 48-56
    • Raben, N.1    Fukuda, T.2    Gilbert, A.L.3
  • 20
    • 78649333177 scopus 로고    scopus 로고
    • Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapy
    • 20801068 10.1016/j.ymgme.2010.08.001 1:CAS:528:DC%2BC3cXhsVGnsbbP
    • Raben N, Ralston E, Chien YH, et al. (2010) Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy. Mol Genet Metab 101:324-331
    • (2010) Mol Genet Metab , vol.101 , pp. 324-331
    • Raben, N.1    Ralston, E.2    Chien, Y.H.3
  • 21
    • 0018958337 scopus 로고
    • Histochemical and ultrastructural aspects of m vastus lateralis in sedentary old people (age 65-89 years)
    • 7435151 10.1007/BF00690450 1:STN:280:DyaL3M%2FlvV2qsw%3D%3D
    • Scelsi R, Marchetti C, Poggi P (1980) Histochemical and ultrastructural aspects of m. vastus lateralis in sedentary old people (age 65-89 years). Acta Neuropathol 51:99-105
    • (1980) Acta Neuropathol , vol.51 , pp. 99-105
    • Scelsi, R.1    Marchetti, C.2    Poggi, P.3
  • 22
    • 53249145658 scopus 로고    scopus 로고
    • Therapeutic approaches in glycogen storage disease type II/Pompe Disease
    • 19019308 10.1016/j.nurt.2008.08.009 1:CAS:528:DC%2BD1cXhsVWlsbbO
    • Schoser B, Hill V, Raben N (2008) Therapeutic approaches in glycogen storage disease type II/Pompe Disease. Neurotherapeutics 5:569-578
    • (2008) Neurotherapeutics , vol.5 , pp. 569-578
    • Schoser, B.1    Hill, V.2    Raben, N.3
  • 24
    • 77649200841 scopus 로고    scopus 로고
    • Autophagy in skeletal muscle: Implications for Pompe disease
    • 20040311 1:CAS:528:DC%2BC3cXhtVWls70%3D
    • Shea L, Raben N (2009) Autophagy in skeletal muscle: implications for Pompe disease. Int J Clin Pharmacol Ther 47(Suppl 1):S42-S47
    • (2009) Int J Clin Pharmacol Ther , vol.47 , Issue.SUPPL. 1
    • Shea, L.1    Raben, N.2
  • 25
    • 84884353647 scopus 로고    scopus 로고
    • Diagnosis
    • M. Baethmann V. Straub A.J.J. Reuser (eds) Bremen UNI-MED
    • Straub V (2008) Diagnosis. In: Baethmann M, Straub V, Reuser AJJ (eds) Pompe disease. Bremen, UNI-MED, pp 51-54
    • (2008) Pompe Disease , pp. 51-54
    • Straub, V.1
  • 26
    • 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
    • 19649685 10.1007/s00415-009-5275-3 1:CAS:528:DC%2BC3cXjsVShuw%3D%3D
    • 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
  • 27
    • 33751211826 scopus 로고    scopus 로고
    • Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease
    • 17075580 10.1038/labinvest.3700484 1:CAS:528:DC%2BD28Xht1akurzE
    • Thurberg BL, Lynch Maloney C, Vaccaro C, et al. (2006) Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest 86:1208-1220
    • (2006) Lab Invest , vol.86 , pp. 1208-1220
    • Thurberg, B.L.1    Lynch Maloney, C.2    Vaccaro, C.3
  • 28
    • 0015733032 scopus 로고
    • Developmental changes in creatine kinase and aldolase isoenzymes and their possible function in association with contractile elements
    • 4593960 1:CAS:528:DyaE2cXktVWms7o%3D
    • Turner DC, Eppenberger HM (1973) Developmental changes in creatine kinase and aldolase isoenzymes and their possible function in association with contractile elements. Enzyme 15:224-238
    • (1973) Enzyme , vol.15 , pp. 224-238
    • Turner, D.C.1    Eppenberger, H.M.2
  • 29
    • 45449088878 scopus 로고    scopus 로고
    • Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease
    • 18508267 10.1016/j.nmd.2008.04.009
    • van Capelle CI, Winkel LP, Hagemans ML, et al. (2008) Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord 18:447-452
    • (2008) Neuromuscul Disord , vol.18 , pp. 447-452
    • Van Capelle, C.I.1    Winkel, L.P.2    Hagemans, M.L.3
  • 31
    • 0042131675 scopus 로고    scopus 로고
    • The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
    • 12897283 10.1542/peds.112.2.332
    • van den Hout HM, Hop W, van Diggelen OP, et al. (2003) The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 112:332-340
    • (2003) Pediatrics , vol.112 , pp. 332-340
    • Van Den Hout, H.M.1    Hop, W.2    Van Diggelen, O.P.3
  • 32
    • 2942570942 scopus 로고    scopus 로고
    • Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
    • 15121988 10.1542/peds.113.5.e448
    • Van den Hout JM, Kamphoven JH, Winkel LP, et al. (2004) Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 113:e448-e457
    • (2004) Pediatrics , vol.113
    • Van Den Hout, J.M.1    Kamphoven, J.H.2    Winkel, L.P.3
  • 33
    • 77950963839 scopus 로고    scopus 로고
    • A randomized study of alglucosidase alfa in late-onset Pompe's disease
    • 20393176 10.1056/NEJMoa0909859
    • 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
  • 35
  • 36
    • 53549095724 scopus 로고    scopus 로고
    • Clinical features of late-onset Pompe disease: A prospective cohort study
    • 18816591 10.1002/mus.21025
    • Wokke JH, Escolar DM, Pestronk A, et al. (2008) Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve 38:1236-1245
    • (2008) Muscle Nerve , vol.38 , pp. 1236-1245
    • Wokke, J.H.1    Escolar, D.M.2    Pestronk, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.