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Volumn 32, Issue 5, 2012, Pages 506-511

Late-onset Pompe's disease

Author keywords

acid maltase deficiency; glycogen storage disease type II; lysosomal storage disease; Pompe's disease

Indexed keywords

CREATINE KINASE; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLYCOGEN; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

EID: 84878095510     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0033-1334469     Document Type: Article
Times cited : (14)

References (33)
  • 1
    • 48249086144 scopus 로고    scopus 로고
    • Early detection of Pompe disease by newborn screening is feasible: Results from the Taiwan screening program
    • Chien Y. H., Chiang S. C., Zhang X. K., et al. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics: 2008; 122 1 e39 e45
    • (2008) Pediatrics , vol.122 , Issue.1
    • Chien, Y.H.1    Chiang, S.C.2    Zhang, X.K.3
  • 2
    • 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: 1999; 7 6 713 716
    • (1999) Eur J Hum Genet , vol.7 , Issue.6 , pp. 713-716
    • Ausems, M.G.1    Verbiest, J.2    Hermans, M.P.3
  • 4
    • 0031695078 scopus 로고    scopus 로고
    • Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease
    • Martiniuk F., Chen A., Mack A., et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet: 1998; 79 1 69 72
    • (1998) Am J Med Genet , vol.79 , Issue.1 , pp. 69-72
    • Martiniuk, F.1    Chen, A.2    MacK, A.3
  • 5
    • 34548621869 scopus 로고    scopus 로고
    • Deconstructing Pompe disease by analyzing single muscle fibers: To see a world in a grain of sand
    • Raben N., Takikita S., Pittis M. G., et al. Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand.. Autophagy: 2007; 3 6 546 552
    • (2007) Autophagy , vol.3 , Issue.6 , pp. 546-552
    • Raben, N.1    Takikita, S.2    Pittis, M.G.3
  • 6
    • 23944445667 scopus 로고    scopus 로고
    • The natural course of non-classic Pompe's disease; A review of 225 published cases
    • Winkel L. P., Hagemans M. L., van Doorn P. A., et al. The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol: 2005; 252 8 875 884
    • (2005) J Neurol , vol.252 , Issue.8 , pp. 875-884
    • Winkel, L.P.1    Hagemans, M.L.2    Van Doorn, P.A.3
  • 7
    • 15044356217 scopus 로고    scopus 로고
    • Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
    • Hagemans M. L., Winkel L. P., Van Doorn P. A., et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain: 2005; 128 Pt 3 671 677
    • (2005) Brain , vol.128 , Issue.PART 3 , pp. 671-677
    • Hagemans, M.L.1    Winkel, L.P.2    Van Doorn, P.A.3
  • 8
    • 77953649486 scopus 로고    scopus 로고
    • Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease
    • Yanovitch T. L., Casey R., Banugaria S. G., Kishnani P. S. Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease. J Neuroophthalmol: 2010; 30 2 165 166
    • (2010) J Neuroophthalmol , vol.30 , Issue.2 , pp. 165-166
    • Yanovitch, T.L.1    Casey, R.2    Banugaria, S.G.3    Kishnani, P.S.4
  • 9
    • 79952202659 scopus 로고    scopus 로고
    • Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease
    • Sacconi S., Bocquet J. D., Chanalet S., Tanant V., Salviati L., Desnuelle C. Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol: 2010; 257 10 1730 1733
    • (2010) J Neurol , vol.257 , Issue.10 , pp. 1730-1733
    • Sacconi, S.1    Bocquet, J.D.2    Chanalet, S.3    Tanant, V.4    Salviati, L.5    Desnuelle, C.6
  • 10
  • 11
    • 29244439628 scopus 로고    scopus 로고
    • Monitoring of pulmonary function in Pompe disease: A muscle disease with new therapeutic perspectives
    • van der Ploeg A. T. Monitoring of pulmonary function in Pompe disease: a muscle disease with new therapeutic perspectives. Eur Respir J: 2005; 26 6 984 985
    • (2005) Eur Respir J , vol.26 , Issue.6 , pp. 984-985
    • Van Der Ploeg, A.T.1
  • 12
    • 33748055480 scopus 로고    scopus 로고
    • Ventilatory dysfunction in late-onset Pompe disease
    • Berger K. I., Skrinar A., Norman R. G., et al. Ventilatory dysfunction in late-onset Pompe disease. Proc Am Thorac Soc: 2005; 171 A788
    • (2005) Proc Am Thorac Soc , vol.171
    • Berger, K.I.1    Skrinar, A.2    Norman, R.G.3
  • 13
    • 34250869118 scopus 로고    scopus 로고
    • Adult-onset glycogen storage disease type 2: Clinico-pathological phenotype revisited
    • Schoser B. G., Müller-Höcker J., Horvath R., et al. Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited. Neuropathol Appl Neurobiol: 2007; 33 5 544 559
    • (2007) Neuropathol Appl Neurobiol , vol.33 , Issue.5 , pp. 544-559
    • Schoser, B.G.1    Müller-Höcker, J.2    Horvath, R.3
  • 14
    • 33745589302 scopus 로고    scopus 로고
    • Pompe disease diagnosis and management guideline
    • Kishnani P. S., Steiner R. D., Bali D., et al. Pompe disease diagnosis and management guideline. Genet Med: 2006; 8 5 267 288
    • (2006) Genet Med , vol.8 , Issue.5 , pp. 267-288
    • Kishnani, P.S.1    Steiner, R.D.2    Bali, D.3
  • 15
    • 0344234444 scopus 로고    scopus 로고
    • Muscle MRI in adult-onset acid maltase deficiency
    • Pichiecchio A., Uggetti C., Ravaglia S., et al. Muscle MRI in adult-onset acid maltase deficiency. Neuromuscul Disord: 2004; 14 1 51 55
    • (2004) Neuromuscul Disord , vol.14 , Issue.1 , pp. 51-55
    • Pichiecchio, A.1    Uggetti, C.2    Ravaglia, S.3
  • 16
    • 33947576374 scopus 로고    scopus 로고
    • Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots
    • Kallwass H., Carr C., Gerrein J., et al. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol Genet Metab: 2007; 90 4 449 452
    • (2007) Mol Genet Metab , vol.90 , Issue.4 , pp. 449-452
    • Kallwass, H.1    Carr, C.2    Gerrein, J.3
  • 17
    • 84878079752 scopus 로고    scopus 로고
    • Available at Accessed February 1, 2013
    • Mutations in human acid alpha-glucosidase. Pompe Center. Available at: www.pompe.com/en/healthcare-professionals/genetics-epidemiology/mutations.aspx. Accessed February 1, 2013
    • Mutations in Human Acid Alpha-glucosidase. Pompe Center
  • 19
    • 33846033132 scopus 로고    scopus 로고
    • Recombinant human acid [alpha]-glucosidase: Major clinical benefits in infantile-onset Pompe disease
    • Kishnani P. S., Corzo D., Nicolino M., et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology: 2007; 68 2 99 109
    • (2007) Neurology , vol.68 , Issue.2 , pp. 99-109
    • Kishnani, P.S.1    Corzo, D.2    Nicolino, M.3
  • 20
    • 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: 2001; 3 2 132 138
    • (2001) Genet Med , vol.3 , Issue.2 , pp. 132-138
    • Amalfitano, A.1    Bengur, A.R.2    Morse, R.P.3
  • 21
    • 2942570942 scopus 로고    scopus 로고
    • Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
    • Van den Hout J. M., Kamphoven J. H., Winkel L. P., et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics: 2004; 113 5 e448 e457
    • (2004) Pediatrics , vol.113 , Issue.5
    • Van Den Hout, J.M.1    Kamphoven, J.H.2    Winkel, L.P.3
  • 22
    • 12144287218 scopus 로고    scopus 로고
    • Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up
    • Winkel L. P., Van den Hout J. M., Kamphoven J. H., et al. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol: 2004; 55 4 495 502
    • (2004) Ann Neurol , vol.55 , Issue.4 , pp. 495-502
    • Winkel, L.P.1    Van Den Hout, J.M.2    Kamphoven, J.H.3
  • 23
    • 77950963839 scopus 로고    scopus 로고
    • A randomized study of alglucosidase alfa in late-onset Pompe's disease
    • van der Ploeg A. T., Clemens P. R., Corzo D., et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med: 2010; 362 15 1396 1406
    • (2010) N Engl J Med , vol.362 , Issue.15 , pp. 1396-1406
    • Van Der Ploeg, A.T.1    Clemens, P.R.2    Corzo, D.3
  • 24
    • 84857066318 scopus 로고    scopus 로고
    • Consensus treatment recommendations for late-onset Pompe disease
    • AANEM Consensus Committee on Late-onset Pompe Disease
    • Cupler E. J., Berger K. I., Leshner R. T., et al. AANEM Consensus Committee on Late-onset Pompe Disease Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve: 2012; 45 3 319 333
    • (2012) Muscle Nerve , vol.45 , Issue.3 , pp. 319-333
    • Cupler, E.J.1    Berger, K.I.2    Leshner, R.T.3
  • 25
    • 84878053705 scopus 로고    scopus 로고
    • Genzyme Corporation Available at Accessed May 2, 2012
    • Genzyme Corporation Lumizyme ACE Program. Available at: http://www.lumizyme.com/healthcare/lumizyme-ace-program.aspx. Accessed May 2, 2012
    • Lumizyme ACE Program
  • 26
    • 0035833919 scopus 로고    scopus 로고
    • Sleep-disordered breathing and respiratory failure in acid maltase deficiency
    • Mellies U., Ragette R., Schwake C., Baethmann M., Voit T., Teschler H. Sleep-disordered breathing and respiratory failure in acid maltase deficiency. Neurology: 2001; 57 7 1290 1295
    • (2001) Neurology , vol.57 , Issue.7 , pp. 1290-1295
    • Mellies, U.1    Ragette, R.2    Schwake, C.3    Baethmann, M.4    Voit, T.5    Teschler, H.6
  • 27
    • 17644365456 scopus 로고    scopus 로고
    • Respiratory failure in Pompe disease: Treatment with noninvasive ventilation
    • Mellies U., Stehling F., Dohna-Schwake C., Ragette R., Teschler H., Voit T. Respiratory failure in Pompe disease: treatment with noninvasive ventilation. Neurology: 2005; 64 8 1465 1467
    • (2005) Neurology , vol.64 , Issue.8 , pp. 1465-1467
    • Mellies, U.1    Stehling, F.2    Dohna-Schwake, C.3    Ragette, R.4    Teschler, H.5    Voit, T.6
  • 28
    • 75549084616 scopus 로고    scopus 로고
    • Rigid spine syndrome revealing late-onset Pompe disease
    • Laforêt P., Doppler V., Caillaud C., et al. Rigid spine syndrome revealing late-onset Pompe disease. Neuromuscul Disord: 2010; 20 2 128 130
    • (2010) Neuromuscul Disord , vol.20 , Issue.2 , pp. 128-130
    • Laforêt, P.1    Doppler, V.2    Caillaud, C.3
  • 29
    • 0024600393 scopus 로고
    • Duchenne muscular dystrophy: Patterns of clinical progression and effects of supportive therapy
    • Brooke M. H., Fenichel G. M., Griggs R. C., et al. Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology: 1989; 39 4 475 481
    • (1989) Neurology , vol.39 , Issue.4 , pp. 475-481
    • Brooke, M.H.1    Fenichel, G.M.2    Griggs, R.C.3
  • 30
    • 0030059638 scopus 로고    scopus 로고
    • Long-term results of spine surgery in Duchenne muscular dystrophy
    • Granata C., Merlini L., Cervellati S., et al. Long-term results of spine surgery in Duchenne muscular dystrophy. Neuromuscul Disord: 1996; 6 1 61 68
    • (1996) Neuromuscul Disord , vol.6 , Issue.1 , pp. 61-68
    • Granata, C.1    Merlini, L.2    Cervellati, S.3
  • 31
    • 77955842384 scopus 로고    scopus 로고
    • Low bone mass in Pompe disease: Muscular strength as a predictor of bone mineral density
    • van den Berg L. E., Zandbergen A. A., van Capelle C. I., et al. Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density. Bone: 2010; 47 3 643 649
    • (2010) Bone , vol.47 , Issue.3 , pp. 643-649
    • Van Den Berg, L.E.1    Zandbergen, A.A.2    Van Capelle, C.I.3
  • 32
    • 53249145658 scopus 로고    scopus 로고
    • Therapeutic approaches in glycogen storage disease type II/Pompe Disease
    • Schoser B., Hill V., Raben N. Therapeutic approaches in glycogen storage disease type II/Pompe Disease. Neurotherapeutics: 2008; 5 4 569 578
    • (2008) Neurotherapeutics , vol.5 , Issue.4 , pp. 569-578
    • Schoser, B.1    Hill, V.2    Raben, N.3
  • 33
    • 77957239453 scopus 로고    scopus 로고
    • Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients
    • Bernstein D. L., Bialer M. G., Mehta L., Desnick R. J. Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol Genet Metab: 2010; 101 2-3 130 133
    • (2010) Mol Genet Metab , vol.101 , Issue.23 , pp. 130-133
    • Bernstein, D.L.1    Bialer, M.G.2    Mehta, L.3    Desnick, R.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.