메뉴 건너뛰기




Volumn 6, Issue 2, 2014, Pages 96-113

Argentine consensus on the diagnosis, monitoring and treatment of Pompe disease;Consenso argentino para el diagnóstico, seguimiento y tratamiento de la enfermedad de Pompe

(20)  Dubrovsky, Alberto a   Fulgenzi, Ernesto b   Amartino, Hernán c   Carlés, Daniel d   Corderi, José a   de Vito, Eduardo e,r   Fainboim, Alejandro g   Ferradás, Nélida h   Guelbert, Norberto i   Lubieniecki, Fabiana j   Mazia, Claudio e   Mesa, Lilia a   Monges, Soledad j   Pesquero, Joao k   Reisin, Ricardo l   Rugiero, Marcelo m   Schenone, Andrea n   Szlago, Marina n   Taratuto, Ana Lia o   Zgaga, Marisa p,q  


Author keywords

Acid alpha glucosidase; Consensus; Enzyme replacement therapy; Glycogen storage disease type ii; Lysosomal acid maltase deficiency; Pompe disease

Indexed keywords

ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; CONFLICT OF INTEREST; CONSENSUS; DISEASE SURVEILLANCE; GLYCOGEN STORAGE DISEASE TYPE 2; LABORATORY DIAGNOSIS; MEDICAL EXPERT; PATHOPHYSIOLOGY; PRACTICE GUIDELINE;

EID: 84901943319     PISSN: 18530028     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neuarg.2014.01.006     Document Type: Article
Times cited : (7)

References (163)
  • 1
    • 2342502654 scopus 로고    scopus 로고
    • Lysosomal storage disorders: The need for better pediatric recognition and comprehensive care
    • W.R. Wilcox Lysosomal storage disorders: The need for better pediatric recognition and comprehensive care J Pediatr 144 5 Suppl 2004 S3 S14
    • (2004) J Pediatr , vol.144 , Issue.5 SUPPL.
    • Wilcox, W.R.1
  • 4
    • 73649187940 scopus 로고
    • Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe's disease)
    • H.G. Hers Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe's disease) Biochem J 86 1963 11 16
    • (1963) Biochem J , vol.86 , pp. 11-16
    • Hers, H.G.1
  • 6
    • 0000995321 scopus 로고    scopus 로고
    • Glycogen storage disease type ii: Acid alpha-glucosidase (acid maltase) deficiency
    • R.C. Schriver, A.L. Beaudet, W.S. Sly, D. Valle, McGraw-Hill New York
    • R. Hirschhorn, and A.J.J. Reuser Glycogen storage disease type ii: Acid alpha-glucosidase (acid maltase) deficiency R.C. Schriver, A.L. Beaudet, W.S. Sly, D. Valle, The metabolic and molecular bases of inherited disease 2001 McGraw-Hill New York 3389 3420
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3389-3420
    • Hirschhorn, R.1    Reuser, A.J.J.2
  • 7
    • 2342537868 scopus 로고    scopus 로고
    • Pompe disease in infants and children
    • P.S. Kishnani, and R.R. Howell Pompe disease in infants and children J Pediatr 144 5 Suppl 2004 S35 S43
    • (2004) J Pediatr , vol.144 , Issue.5 SUPPL.
    • Kishnani, P.S.1    Howell, R.R.2
  • 8
    • 33751014016 scopus 로고    scopus 로고
    • Autophagy and Mistargeting of Therapeutic Enzyme in Skeletal Muscle in Pompe Disease
    • DOI 10.1016/j.ymthe.2006.08.009, PII S1525001606016388
    • T. Fukuda, M. Ahearn, A. Roberts, R.J. Mattaliano, K. Zaal, and E. Ralston et al. Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease Mol Ther 6 2006 831 839 (Pubitemid 44743133)
    • (2006) Molecular Therapy , vol.14 , Issue.6 , pp. 831-839
    • Fukuda, T.1    Ahearn, M.2    Roberts, A.3    Mattaliano, R.J.4    Zaal, K.5    Ralston, E.6    Plotz, P.H.7    Raben, N.8
  • 14
    • 0000314638 scopus 로고
    • Over idiopatische hypertrophie van het hart
    • J.C. Pompe Over idiopatische hypertrophie van het hart Ned Tidschr Geneeskd 76 1932 304 311
    • (1932) Ned Tidschr Geneeskd , vol.76 , pp. 304-311
    • Pompe, J.C.1
  • 15
    • 84862310401 scopus 로고    scopus 로고
    • Hero of neuroscience: The man behind the syndrome
    • L.A. Zeidman, C. Johannes, and M.D. Pompe hero of neuroscience: The man behind the syndrome Muscle Nerve 46 2012 134 138
    • (2012) Muscle Nerve , vol.46 , pp. 134-138
    • Zeidman, L.A.1    Johannes, C.2    Pompe, M.D.3
  • 16
    • 84856213604 scopus 로고    scopus 로고
    • Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten
    • N. Raben, A. Wong, E. Ralston, and R. Myerowitz Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten Am J Med Genet C Semin Med Genet 160 2012 13 21
    • (2012) Am J Med Genet C Semin Med Genet , vol.160 , pp. 13-21
    • Raben, N.1    Wong, A.2    Ralston, E.3    Myerowitz, R.4
  • 17
    • 42449117463 scopus 로고
    • Biochemical aspects of glycogen deposition disease
    • Cori GT. Biochemical aspects of glycogen deposition disease. Bibl Paediat. 1958;14:344-58.
    • (1958) Bibl Paediat. , vol.14 , pp. 344-358
    • Cori, G.T.1
  • 18
    • 0014774632 scopus 로고
    • Acid maltase deficiency: Comparison of infantile, childhood, and adult types
    • Engel AG, Seybold ME, Lambert EH, Gomez MR. Acid maltase deficiency: Comparison of infantile, childhood, and adult types. Neurology. 1970;20:382.
    • (1970) Neurology. , vol.20 , pp. 382
    • Engel, A.G.1    Seybold, M.E.2    Lambert, E.H.3    Gomez, M.R.4
  • 19
    • 0021189754 scopus 로고
    • Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization
    • J. Honig, F. Martiniuk, P. D'Eustachio, C. Zamfirescu, R. Desnick, and K. Hirschhorn et al. Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization Ann Hum Genet 48 Pt 1 1984 49 56 (Pubitemid 14004941)
    • (1984) Annals of Human Genetics , vol.48 , Issue.1 , pp. 49-56
    • Honig, J.1    Martiniuk, F.2    D'Eustachio, P.3
  • 20
    • 0015601143 scopus 로고
    • Enzyme replacement in Pompe disease: An attempt with purified human acid alpha-glucosidase
    • T. De Barsy, P. Jacquemin, F. van Hoof, and H.G. Hers Enzyme replacement in Pompe disease: An attempt with purified human acid alpha-glucosidase Birth Defects Orig Artic Ser 9 1973 184 190
    • (1973) Birth Defects Orig Artic ser , vol.9 , pp. 184-190
    • De Barsy, T.1    Jacquemin, P.2    Van Hoof, F.3    Hers, H.G.4
  • 23
    • 84857066318 scopus 로고    scopus 로고
    • Consensus treatment recommendations for late-onset Pompe disease
    • AANEM Consensus Committee on Late-onset Pompe Disease
    • E.J. Cupler, K.I. Berger, R.T. Leshner, G.I. Wolfe, J.J. Han, R.J. Barohn AANEM Consensus Committee on Late-onset Pompe Disease Consensus treatment recommendations for late-onset Pompe disease Muscle Nerve 45 2012 319 333
    • (2012) Muscle Nerve , vol.45 , pp. 319-333
    • Cupler, E.J.1    Berger, K.I.2    Leshner, R.T.3    Wolfe, G.I.4    Han, J.J.5    Barohn, R.J.6
  • 24
    • 0036086765 scopus 로고    scopus 로고
    • Acid α-glucosidase deficiency (glycogenosis type II, pompe disease)
    • N. Raben, P. Plotz, and B.J. Byrne Acid alpha-glucosidase deficiency (glycogenosis type ii Pompe disease) Curr Mol Med 2 2002 145 166 (Pubitemid 34649837)
    • (2002) Current Molecular Medicine , vol.2 , Issue.2 , pp. 145-166
    • Raben, N.1    Plotz, P.2    Byrne, B.J.3
  • 25
    • 67650240388 scopus 로고    scopus 로고
    • Diagnostic criteria for late-onset (childhood and adult) Pompe, disease
    • American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM)
    • American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) Diagnostic criteria for late-onset (childhood and adult) Pompe, disease Muscle Nerve 40 2009 149 160
    • (2009) Muscle Nerve , vol.40 , pp. 149-160
  • 26
    • 34548613865 scopus 로고    scopus 로고
    • Role of autophagy in the pathogenesis of Pompe disease
    • N. Raben, A. Roberts, and P.H. Plotz Role of autophagy in the pathogenesis of Pompe disease Acta Myol 26 2007 45 48 (Pubitemid 47400724)
    • (2007) Acta Myologica , vol.26 , Issue.1 , pp. 45-48
    • Raben, N.1    Roberts, A.2    Plotz, R.H.3
  • 27
    • 84856227172 scopus 로고    scopus 로고
    • The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management
    • P.S. Kishnani, A.A. Beckemeyer, and N.J. Mendelsohn The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management Am J Med Genet C Semin Med Genet 160 2012 1 7
    • (2012) Am J Med Genet C Semin Med Genet , vol.160 , pp. 1-7
    • Kishnani, P.S.1    Beckemeyer, A.A.2    Mendelsohn, N.J.3
  • 29
    • 33646830132 scopus 로고    scopus 로고
    • A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
    • P.S. Kishnani, W.L. Hwu, H. Mandel, M. Nicolino, F. Yong, and D. Corzo A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease J Pediatr 148 2006 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
  • 30
    • 13844316668 scopus 로고    scopus 로고
    • Infantile onset Pompe disease: A report of physician narratives from an epidemiologic study
    • DOI 10.1097/01.GIM.0000154301.76619.5C
    • D. Marsden Infantile onset Pompe disease: A report of physician narratives from an epidemiologic study Genet Med 7 2005 147 150 (Pubitemid 40261842)
    • (2005) Genetics in Medicine , vol.7 , Issue.2 , pp. 147-150
    • Marsden, D.1
  • 31
    • 0042131675 scopus 로고    scopus 로고
    • The natural course of infantile Pompe's disease: 20 Original cases compared with 133 cases from the literature
    • DOI 10.1542/peds.112.2.332
    • H.M. Van den Hout, W. Hop, O.P. van Diggelen, J.A. Smeitink, G.P. Smit, and B.T. Poll-The et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature Pediatrics 112 2003 332 340 (Pubitemid 36951395)
    • (2003) Pediatrics , vol.112 , Issue.2 I , pp. 332-340
    • Van Den Hout, H.M.P.1    Hop, W.2    Van Diggelen, O.P.3    Smeitink, J.A.M.4    Smit, G.P.A.5
  • 32
    • 33745626499 scopus 로고    scopus 로고
    • Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome
    • DOI 10.1097/01.gim.0000204462.42910.b8, PII 0012581720060500000002
    • R.R. Howell, B. Byrne, B.T. Darras, P. Kishnani, M. Nicolino, and A. van der Ploeg Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome Genet Med 8 2006 289 296 (Pubitemid 44297315)
    • (2006) Genetics in Medicine , vol.8 , Issue.5 , pp. 289-296
    • Howell, R.R.1    Byrne, B.2    Darras, B.T.3    Kishnani, P.4    Nicolino, M.5    Van Der Ploeg, A.6
  • 33
    • 34548611613 scopus 로고    scopus 로고
    • Glycogen storage disease type II: Clinical overview
    • M. Di Rocco, D. Buzzi, and M. Taro Glycogen storage disease type ii: Clinical overview Acta Myol 26 2007 42 44 (Pubitemid 47400723)
    • (2007) Acta Myologica , vol.26 , Issue.1 , pp. 42-44
    • Di Rocco, M.1    Buzzi, D.2    Taro, M.3
  • 34
    • 0033837749 scopus 로고    scopus 로고
    • Identification of two subtypes of infantile acid maltase deficiency
    • DOI 10.1067/mpd.2000.107112
    • A.E. Slonim, L. Bulone, S. Ritz, T. Goldberg, A. Chen, and F. Martiniuk Identification of two subtypes of infantile acid maltase deficiency J Pediatr 137 2000 283 285 (Pubitemid 30659245)
    • (2000) Journal of Pediatrics , vol.137 , Issue.2 , pp. 283-285
    • Slonim, A.E.1    Bulone, L.2    Ritz, S.3    Goldberg, T.4    Chen, A.5    Martiniuk, F.6
  • 35
    • 80052467985 scopus 로고    scopus 로고
    • Challenges in diagnosis and treatment of late-onset Pompe disease
    • Desnuelle C, Salviati L. Challenges in diagnosis and treatment of late-onset Pompe disease. Current Opinion in Neurology. 2011;24:443-8.
    • (2011) Current Opinion in Neurology. , vol.24 , pp. 443-448
    • Desnuelle, C.1    Salviati, L.2
  • 42
    • 82255191641 scopus 로고    scopus 로고
    • The prevalence and impact of scoliosis in Pompe disease: Llessons learned from the Pompe Registry
    • Epub 2011 Aug 16
    • M. Roberts, P.S. Kishnani, A.T. van der Ploeg, W. Müller-Felber, L. Merlini, and S. Prasad et al. The prevalence and impact of scoliosis in Pompe disease: Llessons learned from the Pompe Registry Mol Genet Metab 104 2011 574 582 Epub 2011 Aug 16
    • (2011) Mol Genet Metab , vol.104 , pp. 574-582
    • Roberts, M.1    Kishnani, P.S.2    Van Der Ploeg, A.T.3    Müller-Felber, W.4    Merlini, L.5    Prasad, S.6
  • 43
    • 81555208500 scopus 로고    scopus 로고
    • Expanding the phenotype of late-onset Pompe disease: Tongue weakness: A new clinical observation
    • A. Dubrovsky, J. Corderi, M. Lin, P.S. Kishnani, and H.N. Jones Expanding the phenotype of late-onset Pompe disease: Tongue weakness: A new clinical observation Muscle Nerve 44 2011 897 901
    • (2011) Muscle Nerve , vol.44 , pp. 897-901
    • Dubrovsky, A.1    Corderi, J.2    Lin, M.3    Kishnani, P.S.4    Jones, H.N.5
  • 45
    • 0034005911 scopus 로고    scopus 로고
    • Acid maltase deficiency and related myopathies
    • A.A. Amato Acid maltase deficiency and related myopathies Neurol Clin 18 2000 161 165
    • (2000) Neurol Clin , vol.18 , pp. 161-165
    • Amato, A.A.1
  • 46
    • 0027299894 scopus 로고
    • Adult acid maltase deficiency
    • DOI 10.1002/mus.880160614
    • R.J. Barohn, A.L. McVey, and S. Di Mauro Adult acid maltase deficiency Muscle Nerve 16 1993 672 676 (Pubitemid 23157340)
    • (1993) Muscle and Nerve , vol.16 , Issue.6 , pp. 672-676
    • Barohn, R.J.1    McVey, A.L.2    Dimauro, S.3
  • 47
    • 0015538410 scopus 로고
    • The spectrum and diagnosis of acid maltase deficiency
    • A.G. Engel, M.R. Gomez, M.E. Seybold, and E.H. Lambert The spectrum and diagnosis of acid maltase deficiency Neurology 23 1973 95 106
    • (1973) Neurology , vol.23 , pp. 95-106
    • Engel, A.G.1    Gomez, M.R.2    Seybold, M.E.3    Lambert, E.H.4
  • 51
    • 33646830132 scopus 로고    scopus 로고
    • A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
    • May, Infantile-Onset Pompe Disease Natural History Study Group
    • Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006 May;148:671-76.
    • (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
  • 53
    • 0034711136 scopus 로고    scopus 로고
    • Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation
    • P. Laforêt, M. Nicolino, P.B. Eymard, J.P. Puech, C. Caillaud, and L. Poenaru 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
    • Laforêt, P.1    Nicolino, M.2    Eymard, P.B.3    Puech, J.P.4    Caillaud, C.5    Poenaru, L.6
  • 54
    • 85204163640 scopus 로고    scopus 로고
    • Compromiso del centro respiratorio en pacientes con enfermedad de Pompe de inicio adulto
    • E.L. De Vito, S.G. Monteiro, and P.K. Aruj Compromiso del centro respiratorio en pacientes con enfermedad de Pompe de inicio adulto Respirar 6 Supl. 2012 143
    • (2012) Respirar , vol.6 , Issue.SUPPL. , pp. 143
    • De Vito, E.L.1    Monteiro, S.G.2    Aruj, P.K.3
  • 55
    • 50349083514 scopus 로고    scopus 로고
    • Pompe disease: A review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy
    • L.W. Katzin, and A.A. Amato Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy J Clin Neuromuscul Dis 9 2008 421 431
    • (2008) J Clin Neuromuscul Dis , vol.9 , pp. 421-431
    • Katzin, L.W.1    Amato, A.A.2
  • 56
    • 0035833919 scopus 로고    scopus 로고
    • Sleep-disordered breathing and respiratory failure in acid maltase deficiency
    • U. Mellies, R. Ragette, C. Schwake, M. Baethmann, T. Voit, and H. Teschler Sleep-disordered breathing and respiratory failure in acid maltase deficiency Neurology 57 2001 1290 1295 (Pubitemid 32947390)
    • (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
  • 57
    • 0027300620 scopus 로고
    • Respiratory insufficiency in adult-type acid maltase deficiency
    • DOI 10.1097/00007611-199305000-00015
    • N.A. Moufarrej, and T.E. Bertorini Respiratory insufficiency in adult-type acid maltase deficiency South Med J 86 1993 560 567 (Pubitemid 23150700)
    • (1993) Southern Medical Journal , vol.86 , Issue.5 , pp. 560-567
    • Moufarrej, N.A.1    Bertorini, T.E.2
  • 58
    • 0027605340 scopus 로고
    • A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation
    • D.G. Kim, K. Jung, M.K. Lee, I.G. Hyun, H.J. Lim, and H.G. Song et al. A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation J Korean Med Sci 8 1993 221 224
    • (1993) J Korean Med Sci , vol.8 , pp. 221-224
    • Kim, D.G.1    Jung, K.2    Lee, M.K.3    Hyun, I.G.4    Lim, H.J.5    Song, H.G.6
  • 59
    • 0021344271 scopus 로고
    • Respiratory failure as initial symptom of acid maltase deficiency
    • R.W. Keunen, P.C. Lambregts, A.A. Op de Coul, and E.M. Joosten Respiratory failure as initial symptom of acid maltase deficiency J Neurol Neurosurg Psychiatry 47 1984 549 552 (Pubitemid 14145507)
    • (1984) Journal of Neurology Neurosurgery and Psychiatry , vol.47 , Issue.5 , pp. 549-552
    • Keunen, R.W.M.1    Lambregts, P.C.2
  • 60
    • 85054712011 scopus 로고    scopus 로고
    • Guía para el diagnóstico y tratamiento de las alteraciones respiratorias en las enfermedades neuromusculares
    • [consultado 7 Oct 2013]. Disponible en
    • Domínguez Flores ME, Luna Padrón E, Penãlosa Ochoa L, Galicia Amor S, Toral Freyre S, Banõs Mejía BO, et al., Grupo de Consenso para el Diagnóstico y Tratamiento de las Alteraciones Respiratorias en las Enfermedades Neuromusculares. Guía para el diagnóstico y tratamiento de las alteraciones respiratorias en las enfermedades neuromusculares. Neumol Cir Torax. 2011;70:5-70 [consultado 7 Oct 2013]. Disponible en: http://www.medigraphic.com/neumologia.
    • (2011) Neumol Cir Torax. , vol.70 , pp. 5-70
    • Domínguez Flores, M.E.1    Luna Padrón, E.2    Penãlosa Ochoa, L.3    Galicia Amor, S.4    Toral Freyre, S.5    Banõs Mejía, B.O.6
  • 62
    • 0035668933 scopus 로고    scopus 로고
    • Pulmonary function testing in neuromuscular disease
    • N.S. Ward, and N.S. Hill Pulmonary function testing in neuromuscular disease Clin Chest Med 22 2001 769 781 (Pubitemid 34020013)
    • (2001) Clinics in Chest Medicine , vol.22 , Issue.4 , pp. 769-781
    • Ward, N.S.1    Hill, N.S.2
  • 63
    • 0028278807 scopus 로고
    • Obstructive sleep apnea syndrome in acid maltase deficiency
    • M.L. Margolis, P. Howlett, R. Goldberg, A. Eftychiadis, and S. Levine Obstructive sleep apnea syndrome in acid maltase deficiency Chest 105 1994 947 949 (Pubitemid 24088493)
    • (1994) Chest , vol.105 , Issue.3 , pp. 947-949
    • Margolis, M.L.1    Howlett, P.2    Goldberg, R.3    Eftychiadis, A.4    Levine, S.5
  • 64
    • 26944470785 scopus 로고    scopus 로고
    • Respiratory function assessment and intervention in neuromuscular disorders
    • U. Mellies, C. Dohna-Schwake, and T. Voit Respiratory function assessment and intervention in neuromuscular disorders Curr Opin Neurol 18 2005 543 547 (Pubitemid 41476140)
    • (2005) Current Opinion in Neurology , vol.18 , Issue.5 , pp. 543-547
    • Mellies, U.1    Dohna-Schwake, C.2    Volt, T.3
  • 65
    • 17644365456 scopus 로고    scopus 로고
    • Respiratory failure in Pompe disease: Treatment with noninvasive ventilation
    • U. Mellies, F. Stehling, C. Dohna-Schwake, R. Ragette, H. Teschler, and T. Voit Respiratory failure in Pompe disease: Treatment with noninvasive ventilation Neurology 64 2005 1465 1467 (Pubitemid 40570526)
    • (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
  • 67
    • 29244439628 scopus 로고    scopus 로고
    • Monitoring of pulmonary function in Pompe disease: A muscle disease with new therapeutic perspectives
    • A.T. Van der Ploeg Monitoring of pulmonary function in Pompe disease: A muscle disease with new therapeutic perspectives Eur Respir J 26 2005 984 985
    • (2005) Eur Respir J , vol.26 , pp. 984-985
    • Van Der Ploeg, A.T.1
  • 68
    • 0037102308 scopus 로고    scopus 로고
    • American Thoracic Society/European Respiratory Society (ATS/ERS) statement on respiratory muscle testing
    • American Thoracic Society/European Respiratory Society (ATS/ERS) statement on respiratory muscle testing Am J Respir Crit Care Med 166 2002 518 624
    • (2002) Am J Respir Crit Care Med , vol.166 , pp. 518-624
  • 69
    • 0005987408 scopus 로고
    • Respiratory muscle fatigue: Rationale for diagnostic test. Part C: Disease. Diagnosis
    • C. Roussos, 2nd ed. Marcel y Dekker Inc New York
    • E.L. De Vito, and A. Grassino Respiratory muscle fatigue: Rationale for diagnostic test. Part C: Disease. Diagnosis C. Roussos, The Thorax 2nd ed. 1995 Marcel y Dekker Inc New York
    • (1995) The Thorax
    • De Vito, E.L.1    Grassino, A.2
  • 70
    • 33748055480 scopus 로고    scopus 로고
    • Ventilatory dysfunction in late onset Pompe disease
    • K.I. Berger, A. Skrinar, and R.G. Norman Ventilatory dysfunction in late onset Pompe disease Proc Am Thorac Soc 2 2005 A788
    • (2005) Proc Am Thorac Soc , vol.2 , pp. 788
    • Berger, K.I.1    Skrinar, A.2    Norman, R.G.3
  • 71
  • 73
  • 74
    • 0033031890 scopus 로고    scopus 로고
    • An interesting case of infant sudden death: Severe hypertrophic cardiomyopathy in Pompe's disease
    • DOI 10.1111/j.1540-8159.1999.tb00551.x
    • J.D. Metzl, E.R. Elias, and C.I. Berul An interesting case of infant sudden death: Severe hypertrophic cardiomyopathy in Pompe's disease Pacing Clin Electrophysiol 22 1999 821 822 (Pubitemid 29245001)
    • (1999) PACE - Pacing and Clinical Electrophysiology , vol.22 , Issue.5 , pp. 821-822
    • Metzl, J.D.1    Elias, E.R.2    Berul, C.I.3
  • 80
    • 0017797658 scopus 로고
    • Acid maltase deficiency in adults presenting as respiratory failure
    • DOI 10.1016/0002-9343(78)90235-8
    • E.C. Rosenow, and A.G. Engel Acid maltase deficiency in adults presenting as respiratory failure Am J Med 64 1978 485 491 (Pubitemid 8302307)
    • (1978) American Journal of Medicine , vol.64 , Issue.3 , pp. 485-491
    • Rosenow III, E.C.1    Engel, A.G.2
  • 81
    • 34248583558 scopus 로고    scopus 로고
    • Obesity hypoventilation syndrome: Prevalence and predictors in patients with obstructive sleep apnea
    • DOI 10.1007/s11325-006-0092-8
    • B. Mokhlesi, A. Tulaimat, I. Faibussowitsch, Y. Wang, and A.T. Evans Obesity hypoventilation syndrome: Prevalence and predictors in patients with obstructive sleep apnea Sleep Breath 11 2007 117 124 (Pubitemid 46745864)
    • (2007) Sleep and Breathing , vol.11 , Issue.2 , pp. 117-124
    • Mokhlesi, B.1    Tulaimat, A.2    Faibussowitsch, I.3    Wang, Y.4    Evans, A.T.5
  • 84
    • 0347579840 scopus 로고    scopus 로고
    • Cough augmentation with mechanical insufflation/exsufflation in patients with neuromuscular weakness
    • M. Chatwin, E. Ross, N. Hart, A.H. Nickol, M.I. Polkey, and A.K. Simonds Cough augmentation with mechanical insufflation/exsufflation in patients with neuromuscular weakness Eur Respir J 21 2003 502 508 (Pubitemid 36336212)
    • (2003) European Respiratory Journal , vol.21 , Issue.3 , pp. 502-508
    • Chatwin, M.1    Ross, E.2    Hart, N.3    Nickol, A.H.4    Polkey, M.I.5    Simonds, A.K.6
  • 86
    • 0032791230 scopus 로고    scopus 로고
    • Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD and nocturnal hypoventilation - A consensus conference report
    • Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD and nocturnal hypoventilation - a consensus conference report Chest 116 1999 521 534
    • (1999) Chest , vol.116 , pp. 521-534
  • 87
    • 0019226470 scopus 로고
    • 2 on ventilation and blood gases in patients with chronic obstructive pulmonary disease during acute respiratory failure
    • M. Aubier, D. Murciano, J. Milic-Emili, E. Touaty, J. Daghfous, and R. Pariente et al. Effects of the administration of O2 on ventilation and blood gases in patients with chronic obstructive pulmonary disease during acute respiratory failure Am Rev Respir Dis 122 1980 747 754 (Pubitemid 11194222)
    • (1980) American Review of Respiratory Disease , vol.122 , Issue.5 I , pp. 747-754
    • Aubier, M.1    Murciano, D.2    Milic-Emili, J.3
  • 88
    • 84867899868 scopus 로고    scopus 로고
    • Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa
    • A.T. Van der Ploeg, R. Barohn, L. Carlson, J. Charrow, P.R. Clemens, and R.J. Hopkin et al. Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa Mol Genet Metab 107 2012 456 461
    • (2012) Mol Genet Metab , vol.107 , pp. 456-461
    • Van Der Ploeg, A.T.1    Barohn, R.2    Carlson, L.3    Charrow, J.4    Clemens, P.R.5    Hopkin, R.J.6
  • 89
    • 84857629552 scopus 로고    scopus 로고
    • Long-term follow-up effects on enzyme replacement treatment of adult form of acid maltase deficiency myopathy
    • C. Angelini, C. Semplicini, S. Ravaglia, B. Bembi, S. Servidei, and M. Moggio et al. Long-term follow-up effects on enzyme replacement treatment of adult form of acid maltase deficiency myopathy Acta Myol 30 2011 152
    • (2011) Acta Myol , vol.30 , pp. 152
    • Angelini, C.1    Semplicini, C.2    Ravaglia, S.3    Bembi, B.4    Servidei, S.5    Moggio, M.6
  • 90
    • 84876476681 scopus 로고    scopus 로고
    • Enzyme replacement therapy in late-onset Pompe disease: A systematic literature review
    • A. Toscano, and B. Schoser Enzyme replacement therapy in late-onset Pompe disease: A systematic literature review J Neurol 260 2013 951 959
    • (2013) J Neurol , vol.260 , pp. 951-959
    • Toscano, A.1    Schoser, B.2
  • 91
    • 58549111796 scopus 로고    scopus 로고
    • Cardiac remodeling after enzyme replacement therapy with acid _-glucosidase for infants with Pompe disease
    • Levine JC, Kishnani PS, Chen YT, Herlong JR, Li JS. Cardiac remodeling after enzyme replacement therapy with acid _-glucosidase for infants with Pompe disease. Pediatr Cardiol. 2008;29:1033-42.
    • (2008) Pediatr Cardiol. , vol.29 , pp. 1033-1042
    • Levine, J.C.1    Kishnani, P.S.2    Chen, Y.T.3    Herlong, J.R.4    Li, J.S.5
  • 92
    • 78649321995 scopus 로고    scopus 로고
    • Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy
    • Barker PC, Pasquali SK, Darty S, Ing RJ, Li JS, Kim RJ, et al. Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy. Mol Genet Metab. 2010;101:332-7.
    • (2010) Mol Genet Metab. , vol.101 , pp. 332-337
    • Barker, P.C.1    Pasquali, S.K.2    Darty, S.3    Ing, R.J.4    Li, J.S.5    Kim, R.J.6
  • 93
    • 80255137080 scopus 로고    scopus 로고
    • Left ventricular geometry, global function, and dyssynchrony in infants and children with Pompe cardiomyopathy undergoing enzyme replacement therapy
    • Chen CA, Chien YH, Hwu WL, Lee NC, Wang JK, Chen LR, et al. Left ventricular geometry, global function, and dyssynchrony in infants and children with Pompe cardiomyopathy undergoing enzyme replacement therapy. J Card Fail. 2011;17:930-6.
    • (2011) J Card Fail. , vol.17 , pp. 930-936
    • Chen, C.A.1    Chien, Y.H.2    Hwu, W.L.3    Lee, N.C.4    Wang, J.K.5    Chen, L.R.6
  • 94
    • 38949192583 scopus 로고    scopus 로고
    • Method for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting
    • Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, et al. Method for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting. Mol Genet Metab. 2008;93:275-81.
    • (2008) Mol Genet Metab. , vol.93 , pp. 275-281
    • Winchester, B.1    Bali, D.2    Bodamer, O.A.3    Caillaud, C.4    Christensen, E.5    Cooper, A.6
  • 95
    • 33745108808 scopus 로고    scopus 로고
    • Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storge disorders
    • M.H. Gelb, F. Turecek, C.R. Scott, and N.A. Chamoles Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storge disorders J Inherit Metab Dis 29 2008 397 404
    • (2008) J Inherit Metab Dis , vol.29 , pp. 397-404
    • Gelb, M.H.1    Turecek, F.2    Scott, C.R.3    Chamoles, N.A.4
  • 96
    • 33947654710 scopus 로고    scopus 로고
    • Diagnostic value of urinay and plasma tetrasaccharides in infantile and late onset glycogen storage disease type ii
    • S.P. Young, D. Corzo, and P. Kishnani Diagnostic value of urinay and plasma tetrasaccharides in infantile and late onset glycogen storage disease type ii Mol Genet Metab 84 2005 241 242
    • (2005) Mol Genet Metab , vol.84 , pp. 241-242
    • Young, S.P.1    Corzo, D.2    Kishnani, P.3
  • 98
    • 84901951307 scopus 로고    scopus 로고
    • Non-diagnostic muscle biopsies in late onset Pompe's Disease
    • A.L. Taratuto, Dubrovsky, and J. Corderi Non-diagnostic muscle biopsies in late onset Pompe's Disease J Neuropathol Exp Neurol 70 2011 533
    • (2011) J Neuropathol Exp Neurol , vol.70 , pp. 533
    • Taratuto, A.L.1    Dubrovsky2    Corderi, J.3
  • 100
    • 79956191593 scopus 로고    scopus 로고
    • A review of treatment of Pompe disease in infants
    • Y.-H. Chien, and W.-L. Hwu A review of treatment of Pompe disease in infants Biologics 1 2007 195 201
    • (2007) Biologics , vol.1 , pp. 195-201
    • Chien, Y.-H.1    Hwu, W.-L.2
  • 101
    • 33846079722 scopus 로고    scopus 로고
    • Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype
    • DOI 10.1212/01.wnl.0000252798.25690.76, PII 0000611420070109000008
    • M.A. Kroos, R.J. Pomponio, M.L. Hagemans, J.L. Keulemans, M. Phipps, and M. DeRiso et al. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype Neurology 68 2007 110 115 (Pubitemid 46071893)
    • (2007) Neurology , vol.68 , Issue.2 , pp. 110-115
    • Kroos, M.A.1    Pomponio, R.J.2    Hagemans, M.L.3    Keulemans, J.L.M.4    Phipps, M.5    DeRiso, M.6    Palmer, R.E.7
  • 102
    • 84866732707 scopus 로고    scopus 로고
    • 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy
    • C. Regnery, C. Kornblum, F. Hanisch, S. Vielhaber, N. Strigl-Pill, and B. Grunert et al. 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy J Inherit Metab Dis 35 2012 837 845
    • (2012) J Inherit Metab Dis , vol.35 , pp. 837-845
    • Regnery, C.1    Kornblum, C.2    Hanisch, F.3    Vielhaber, S.4    Strigl-Pill, N.5    Grunert, B.6
  • 106
    • 82455164311 scopus 로고    scopus 로고
    • Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns
    • doi:10.1016/j.nmd.2011.06.748 Epub 2011 Jul 30
    • Carlier RY, Laforet P, Wary C, Mompoint D, Laloui K, Pellegrini N, et al. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns. Neuromuscul Disord. 2011;21:791-9, doi:10.1016/j.nmd.2011.06.748 Epub 2011 Jul 30.
    • (2011) Neuromuscul Disord. , vol.21 , pp. 791-799
    • Carlier, R.Y.1    Laforet, P.2    Wary, C.3    Mompoint, D.4    Laloui, K.5    Pellegrini, N.6
  • 108
    • 70349086559 scopus 로고    scopus 로고
    • Rehabilitation management of neuromuscular disease: The role of exercise training
    • R.T. Abresch, J.J. Han, and G.T. Carter Rehabilitation management of neuromuscular disease: The role of exercise training J Clin Neuromuscul Dis 11 2009 7 21
    • (2009) J Clin Neuromuscul Dis , vol.11 , pp. 7-21
    • Abresch, R.T.1    Han, J.J.2    Carter, G.T.3
  • 109
    • 0026583680 scopus 로고
    • Exercise-induced muscle damage-animal and human models
    • Clarkson PM. Exercise-induced muscle damage-animal and human models. Med Sci Sports Exerc. 1992;24: 510-1.
    • (1992) Med Sci Sports Exerc. , vol.24 , pp. 510-511
    • Clarkson, P.M.1
  • 110
    • 33745625409 scopus 로고    scopus 로고
    • Physical therapy management of Pompe disease
    • L.E. Case, and P.S. Kishnani Physical therapy management of Pompe disease Genet Med 8 2006 318 332
    • (2006) Genet Med , vol.8 , pp. 318-332
    • Case, L.E.1    Kishnani, P.S.2
  • 111
    • 33845992187 scopus 로고    scopus 로고
    • Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy
    • DOI 10.1002/mus.20665
    • A.E. Slonim, L. Bulone, T. Goldberg, J. Minikes, E. Slonim, and J. Galanko et al. Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy Muscle Nerve 35 2007 70 77 (Pubitemid 46052651)
    • (2007) Muscle and Nerve , vol.35 , Issue.1 , pp. 70-77
    • Slonim, A.E.1    Bulone, L.2    Goldberg, T.3    Minikes, J.4    Slonim, E.5    Galanko, J.6    Martiniuk, F.7
  • 112
    • 82455162510 scopus 로고    scopus 로고
    • Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy
    • G. Terzis, F. Dimopoulos, G.K. Papadimas, C. Papadopoulos, K. Spengos, and I. Fatouros et al. Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy Mol Genet Metab 104 2011 279 283
    • (2011) Mol Genet Metab , vol.104 , pp. 279-283
    • Terzis, G.1    Dimopoulos, F.2    Papadimas, G.K.3    Papadopoulos, C.4    Spengos, K.5    Fatouros, I.6
  • 113
    • 15244356311 scopus 로고    scopus 로고
    • Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy
    • D.B. Olsen, M.C. Orngreen, and J. Vissing Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy Neurology 64 2005 1064 1066 (Pubitemid 40388464)
    • (2005) Neurology , vol.64 , Issue.6 , pp. 1064-1066
    • Olsen, D.B.1    Orngreen, M.C.2    Vissing, J.3
  • 114
    • 18244394008 scopus 로고    scopus 로고
    • Aerobic training in patients with myotonic dystrophy type 1
    • DOI 10.1002/ana.20460
    • M.C. Orngreen, D.B. Olsen, and J. Vissing Aerobic training in patients with myotonic dystrophy type 1 Ann Neurol 57 2005 754 757 (Pubitemid 40628867)
    • (2005) Annals of Neurology , vol.57 , Issue.5 , pp. 754-757
    • Orngreen, M.C.1    Olsen, D.B.2    Vissing, J.3
  • 115
    • 55749112480 scopus 로고    scopus 로고
    • Endurance training improves fitness and strength in patients with Becker muscular dystrophy
    • doi:10.1093/brain/awn189 Epub 2008 Sep 6
    • M.L. Sveen, T.D. Jeppesen, S. Hauerslev, L. Køber, T.O. Krag, and J. Vissing Endurance training improves fitness and strength in patients with Becker muscular dystrophy Brain 131 Pt 11 2008 2824 2831 doi:10.1093/brain/ awn189 Epub 2008 Sep 6
    • (2008) Brain , vol.131 , Issue.PART 11 , pp. 2824-2831
    • Sveen, M.L.1    Jeppesen, T.D.2    Hauerslev, S.3    Køber, L.4    Krag, T.O.5    Vissing, J.6
  • 116
    • 0021347933 scopus 로고
    • Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture
    • J. Griffin Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture Virchows Arch B Cell Pathol Incl Mol Pathol 45 1984 23 36 (Pubitemid 14175482)
    • (1984) Virchows Archiv Abteilung B Cell Pathology , vol.45 , Issue.1 , pp. 23-36
    • Griffin, J.L.1
  • 117
    • 0036838252 scopus 로고    scopus 로고
    • Role of physical activity and exercise training in neuromuscular diseases
    • Fowler Jr WM. Role of physical activity and exercise training in neuromuscular diseases. Am J Phys Med Rehabil. 2002;81 Suppl:S187-95.
    • (2002) Am J Phys Med Rehabil. , vol.81 , Issue.SUPPL.
    • Fowler Jr., W.M.1
  • 118
    • 0036892288 scopus 로고    scopus 로고
    • Report on the Muscular Dystrophy Campaign workshop: Exercise in neuromuscular diseases Newcastle, January 2002
    • DOI 10.1016/S0960-8966(02)00136-0, PII S0960896602001360
    • M. Eagle Report on the muscular dystrophy campaign workshop: Exercise in neuromuscular diseases Newcastle Neuromuscul Disord 12 2002 975 983 (Pubitemid 35414372)
    • (2002) Neuromuscular Disorders , vol.12 , Issue.10 , pp. 975-983
    • Eagle, M.1
  • 121
    • 0346888534 scopus 로고    scopus 로고
    • Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II
    • DOI 10.1023/B:BOLI.0000005618.76542.ed
    • B. Bembi, G. Ciana, C. Martini, A. Benettoni, A. Gombacci, and M. Deganuto et al. Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type ii J Inherit Metab Dis 26 2003 675 681 (Pubitemid 38008972)
    • (2003) Journal of Inherited Metabolic Disease , vol.26 , Issue.7 , pp. 675-681
    • Bembi, B.1    Ciana, G.2    Martini, C.3    Benettoni, A.4    Gombacci, A.5    Deganuto, M.6    Pittis, M.G.7
  • 122
    • 84869872640 scopus 로고    scopus 로고
    • Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy
    • Terzis G, Krase A, Papadimas G, Papadopoulos C, Kavouras S, Manta P. Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab. 2012;107:669-73.
    • (2012) Mol Genet Metab. , vol.107 , pp. 669-673
    • Terzis, G.1    Krase, A.2    Papadimas, G.3    Papadopoulos, C.4    Kavouras, S.5    Manta, P.6
  • 123
    • 0031917420 scopus 로고    scopus 로고
    • Limb contractures in progressive neuromuscular disease and the role of stretching, orthotics, and surgery
    • C.M. McDonald Limb contractures in progressive neuromuscular disease and the role of stretching, orthotics and surgery Phys Med Rehabil Clin N Am 9 1998 187 211 (Pubitemid 28134027)
    • (1998) Physical Medicine and Rehabilitation Clinics of North America , vol.9 , Issue.1 , pp. 187-211
    • McDonald, C.M.1
  • 125
    • 4344698908 scopus 로고    scopus 로고
    • Surgical treatment of spinal deformities in Duchenne muscular dystrophy: A long term follow-up study
    • S. Cervellati, N. Bettini, M. Moscato, A. Gusella, E. Dema, and R. Maresi Surgical treatment of spinal deformities in Duchenne muscular dystrophy: A long term follow-up study Eur Spine J 13 2004 441 448 (Pubitemid 39141506)
    • (2004) European Spine Journal , vol.13 , Issue.5 , pp. 441-448
    • Cervellati, S.1    Bettini, N.2    Moscato, M.3    Gusella, A.4    Dema, E.5    Maresi, R.6
  • 131
    • 84874991321 scopus 로고    scopus 로고
    • Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement
    • Hobson-Webb LD, Jones HN, Priya S, Kishnani PS. Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement. Neuromuscul Disord. 2013;23:319-23.
    • (2013) Neuromuscul Disord. , vol.23 , pp. 319-323
    • Hobson-Webb, L.D.1    Jones, H.N.2    Priya, S.3    Kishnani, P.S.4
  • 132
    • 77957239453 scopus 로고    scopus 로고
    • Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients
    • D.L. Bernstein, M.G. Bialer, L. Mehta, and R.J. Desnick Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients Mol Genet Metab 101 2010 130 133
    • (2010) Mol Genet Metab , vol.101 , pp. 130-133
    • Bernstein, D.L.1    Bialer, M.G.2    Mehta, L.3    Desnick, R.J.4
  • 134
    • 33645378518 scopus 로고    scopus 로고
    • Benign course of glycogen storage disease type iib in two brothers: Nature or nurture?
    • Slonim AE, Bulone L, Minikes J, Hays AP, Shanske S, Tsujino S, et al. Benign course of glycogen storage disease type iib in two brothers: Nature or nurture? Muscle Nerve. 2006;33:571-4.
    • (2006) Muscle Nerve. , vol.33 , pp. 571-574
    • Slonim, A.E.1    Bulone, L.2    Minikes, J.3    Hays, A.P.4    Shanske, S.5    Tsujino, S.6
  • 135
    • 0015601095 scopus 로고
    • Treatment related observations in solid tissues, fibroblast cultured and amniotic fluid cells of type ii glycogenosis, Hurler disease and metachromatic leukodystrophy
    • G. Hug, W.K. Schubert, and S. Soukup Treatment related observations in solid tissues, fibroblast cultured and amniotic fluid cells of type ii glycogenosis, Hurler disease and metachromatic leukodystrophy Birth Defects Orig Art Ser 9 1973 160 183
    • (1973) Birth Defects Orig Art ser , vol.9 , pp. 160-183
    • Hug, G.1    Schubert, W.K.2    Soukup, S.3
  • 136
    • 0033811154 scopus 로고    scopus 로고
    • The effects of l-alanine supplementation in late-onset glycogen storage disease type ii
    • O.A. Bodamer, D. Halliday, and J.V. Leonard The effects of l-alanine supplementation in late-onset glycogen storage disease type ii Neurology 55 2000 710 712
    • (2000) Neurology , vol.55 , pp. 710-712
    • Bodamer, O.A.1    Halliday, D.2    Leonard, J.V.3
  • 138
    • 0020679193 scopus 로고
    • Improvement of muscle function in acid maltase deficiency by high-protein therapy
    • A.E. Slonim, R.A. Coleman, M.A. McElligot, J. Najjar, K. Hirschhorn, and G.U. Labadie et al. Improvement of muscle function in acid maltase deficiency by high-protein therapy Neurology 33 1983 34 38 (Pubitemid 13171155)
    • (1983) Neurology , vol.33 , Issue.1 , pp. 34-38
    • Slonim, A.E.1    Coleman, R.A.2    McElligot, M.A.3
  • 139
    • 0030759860 scopus 로고    scopus 로고
    • Dietary treatment in late-onset acid maltase deficiency
    • O.A. Bodamer, J.V. Leonard, and D. Halliday Dietary treatment in late-onset acid maltase deficiency Eur J Pediatr 156 1997 S39 S42
    • (1997) Eur J Pediatr , vol.156
    • Bodamer, O.A.1    Leonard, J.V.2    Halliday, D.3
  • 144
    • 36248964186 scopus 로고    scopus 로고
    • Pompe disease: Current state of treatment modalities and animal models
    • DOI 10.1016/j.ymgme.2007.07.009, PII S1096719207002478
    • T.M. Geel, P.M. McLaughlin, L.F. de Leij, M.H. Ruiters, and K.E. Niezen-Koning Pompe disease: Current state of treatment modalities and animal models Mol Genet Metab 92 2007 299 307 (Pubitemid 350123729)
    • (2007) Molecular Genetics and Metabolism , vol.92 , Issue.4 , pp. 299-307
    • Geel, T.M.1    McLaughlin, P.M.2
  • 147
    • 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 AR, Morse RP, Majure JM, Case LE, Veerling DL, 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;3:132-8.
    • (2001) Genet Med. , vol.3 , pp. 132-138
    • Amalfitano, A.1    Bengur, A.R.2    Morse, R.P.3    Majure, J.M.4    Case, L.E.5    Veerling, D.L.6
  • 148
    • 15044345490 scopus 로고    scopus 로고
    • Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: Results of a phase II clinical trial
    • DOI 10.1016/j.nmd.2004.10.009
    • L. Klinge, V. Straub, U. Neudorf, J. Schaper, T. Bosbach, and K. Görlinger et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: Results of a phase ii clinical trial Neuromuscul Disord 15 2005 24 31 (Pubitemid 41556629)
    • (2005) Neuromuscular Disorders , vol.15 , Issue.1 , pp. 24-31
    • Klinge, L.1    Straub, V.2    Neudorf, U.3    Schaper, J.4    Bosbach, T.5    Gorlinger, K.6    Wallot, M.7    Richards, S.8    Voit, T.9
  • 150
  • 152
    • 84866084747 scopus 로고    scopus 로고
    • The emerging phenotype of long-term survivors with infantile Pompe disease
    • doi: 10.1038/gim.2012.44 Epub 2012 Apr 26
    • S.N. Prater, S.G. Banugaria, S.M. DeArmey, E.G. Botha, E.M. Stege, and L.E. Case et al. The emerging phenotype of long-term survivors with infantile Pompe disease Genet Med 14 2012 800 810 doi: 10.1038/gim.2012.44 Epub 2012 Apr 26
    • (2012) Genet Med , vol.14 , pp. 800-810
    • Prater, S.N.1    Banugaria, S.G.2    Dearmey, S.M.3    Botha, E.G.4    Stege, E.M.5    Case, L.E.6
  • 153
    • 84902690368 scopus 로고    scopus 로고
    • [package, insert], Cambridge: Genzyme Corporation
    • Lumizyme [package, insert]. Cambridge: Genzyme Corporation; 2010.
    • (2010) Lumizyme
  • 154
    • 84875299316 scopus 로고    scopus 로고
    • Impact of enzyme replacement therapy on survival in adults with Pompe disease: Results from a prospective international observational study
    • Güngör D, Kruijshaar ME, Plug I, D'Agostino Sr RB, Hagemans ML, van Doorn PA, et al. Impact of enzyme replacement therapy on survival in adults with Pompe disease: Results from a prospective international observational study. Orphanet J Rare Dis. 2013;8:49.
    • (2013) Orphanet J Rare Dis. , vol.8 , pp. 49
    • Güngör, D.1    Kruijshaar, M.E.2    Plug, I.3    D'Agostino Sr., R.B.4    Hagemans, M.L.5    van Doorn, P.A.6
  • 156
    • 79960093688 scopus 로고    scopus 로고
    • Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease
    • D. Orlikowski, N. Pellegrini, H. Prigent, P. Laforêt, R. Carlier, and P. Carlier et al. Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease Neuromuscul Disord 21 2011 477 482
    • (2011) Neuromuscul Disord , vol.21 , pp. 477-482
    • Orlikowski, D.1    Pellegrini, N.2    Prigent, H.3    Laforêt, P.4    Carlier, R.5    Carlier, P.6
  • 157
    • 80053317662 scopus 로고    scopus 로고
    • Making diagnosis of Pompe disease at a presymptomatic stage: To treat or not to treat?
    • K. Laloui, C. Wary, R.Y. Carlier, J.Y. Hogrel, C. Caillaud, and P. Laforêt Making diagnosis of Pompe disease at a presymptomatic stage: To treat or not to treat? Neurology 77 2011 594 595
    • (2011) Neurology , vol.77 , pp. 594-595
    • Laloui, K.1    Wary, C.2    Carlier, R.Y.3    Hogrel, J.Y.4    Caillaud, C.5    Laforêt, P.6
  • 158
    • 40449085408 scopus 로고    scopus 로고
    • Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model
    • DOI 10.1111/j.1365-2249.2008.03602.x
    • A. Joseph, K. Munroe, M. Housman, R. Garman, and S. Richards Immune tolerance induction to enzyme replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model Clin Exp Immunol 152 2008 138 146 (Pubitemid 351347554)
    • (2008) Clinical and Experimental Immunology , vol.152 , Issue.1 , pp. 138-146
    • Joseph, A.1    Munroe, K.2    Housman, M.3    Garman, R.4    Richards, S.5
  • 159
    • 35348926853 scopus 로고    scopus 로고
    • Enhanced response to enzyme replacement therapy in pompe disease after the induction of immune tolerance
    • DOI 10.1086/522236
    • B. Sun, A. Bird, S.P. Young, P.S. Kishnani, Y.T. Chen, and D.D. Koeberl Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance Am J Hum Genet 81 2007 1042 1049 (Pubitemid 47580255)
    • (2007) American Journal of Human Genetics , vol.81 , Issue.5 , pp. 1042-1049
    • Sun, B.1    Bird, A.2    Young, S.P.3    Kishnani, P.S.4    Chen, Y.-T.5    Koeber, D.D.6
  • 161
    • 84879340927 scopus 로고    scopus 로고
    • Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile Pompe disease: A step towards improving the efficacy of ERT
    • S.G. Banugaria, S.N. Prater, T.T. Patel, S.M. Dearmey, C. Milleson, and K.B. Sheets et al. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile Pompe disease: A step towards improving the efficacy of ERT PLoS One 8 2013 e67052
    • (2013) PLoS One , vol.8 , pp. 67052
    • Banugaria, S.G.1    Prater, S.N.2    Patel, T.T.3    Dearmey, S.M.4    Milleson, C.5    Sheets, K.B.6
  • 162
    • 0036853028 scopus 로고    scopus 로고
    • Glycogen stored in skeletal but not in cardiac muscle in acid α-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme
    • DOI 10.1016/S1525-0016(02)90716-1
    • N. Raben, T. Jatkar, A. Lee, N. Lu, S. Dwivedi, and K. Nagaraju et al. Glycogen stored in skeletal but not in cardiac muscle in acid alphaglucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme Mol Ther 6 2002 601 608 (Pubitemid 35363692)
    • (2002) Molecular Therapy , vol.6 , Issue.5 , pp. 601-608
    • Raben, N.1    Jatkar, T.2    Lee, A.3    Lu, N.4    Dwivedi, S.5    Nagaraju, K.6    Plotz, P.H.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.