메뉴 건너뛰기




Volumn 173, Issue 6, 2014, Pages 805-813

Enzyme replacement therapy in juvenile glycogenosis type II: A longitudinal study

Author keywords

Enzyme replacement therapy; Exercise tolerance; Glycogen storage disease type II; Pulmonary function

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; LACTATE DEHYDROGENASE; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; ALPHA GLUCOSIDASE;

EID: 84903821204     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-013-2258-2     Document Type: Article
Times cited : (18)

References (38)
  • 2
    • 34247575220 scopus 로고    scopus 로고
    • Late-onset GSDII with novel GAA gene mutation [3]
    • DOI 10.1111/j.1399-0004.2007.00785.x
    • Angelini C, Nascimbeni AC (2007) Late-onset GSDII with novel GAA gene mutation. Clin Genet 71:374-375 (Pubitemid 46680805)
    • (2007) Clinical Genetics , vol.71 , Issue.4 , pp. 374-375
    • Angelini, C.1    Nascimbeni, A.C.2
  • 4
    • 0036644465 scopus 로고    scopus 로고
    • ATS statement: Guidelines for the sixminute walk test
    • ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories
    • ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories (2002) ATS statement: guidelines for the sixminute walk test. Am J Respir Crit Care Med 166:111-117
    • (2002) Am J Respir Crit Care Med , vol.166 , pp. 111-117
  • 6
    • 84856212433 scopus 로고    scopus 로고
    • Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience
    • Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS (2012) Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. Am J Med Genet C: Semin Med Genet 160C:40-49
    • (2012) Am J Med Genet C: Semin Med Genet , vol.160 C , pp. 40-49
    • Bali, D.S.1    Goldstein, J.L.2    Banugaria, S.3    Dai, J.4    Mackey, J.5    Rehder, C.6    Kishnani, P.S.7
  • 9
    • 0020410785 scopus 로고
    • Psycho-physical bases of perceived exertion
    • Borg GAV (1982) Psycho-physical bases of perceived exertion.Med Sci Sports Exerc 14:377-381
    • (1982) Med Sci Sports Exerc , vol.14 , pp. 377-381
    • Borg, G.A.V.1
  • 10
    • 0001216507 scopus 로고
    • Acid maltase deficiency
    • Engel A, Franzini-Armstrong C (eds) McGraw-Hill, New York
    • Engel AG, Hirschhorn R (1994) Acid maltase deficiency. In: Engel A, Franzini-Armstrong C (eds) Myology: basic and clinical. McGraw-Hill, New York, pp 1533-1553
    • (1994) Myology: Basic and Clinical , pp. 1533-1553
    • Engel, A.G.1    Hirschhorn, R.2
  • 12
    • 33644994280 scopus 로고    scopus 로고
    • Course of disability and respiratory function in untreated late-onset Pompe disease
    • DOI 10.1212/01.wnl.0000198776.53007.2c, PII 0000611420060228000029
    • Hagemans ML, Hop WJ, Van Doorn PA, Reuser AJ, Van der Ploeg AT (2006) Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology 66:581-583 (Pubitemid 43739893)
    • (2006) Neurology , vol.66 , Issue.4 , pp. 581-583
    • Hagemans, M.L.C.1    Hop, W.J.C.2    Van Doom, P.A.3    Reuser, A.J.J.4    Van Der, P.A.T.5
  • 13
    • 21144449402 scopus 로고    scopus 로고
    • Disease severity in children and adults with Pompe disease related to age and disease duration
    • DOI 10.1212/01.WNL.0000165979.46537.56
    • Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT (2005) Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology 64:2139-2141 (Pubitemid 40881011)
    • (2005) Neurology , vol.64 , Issue.12 , pp. 2139-2141
    • Hagemans, M.L.C.1    Winkel, L.P.F.2    Hop, W.C.J.3    Reuser, A.J.J.4    Van Doorn, P.A.5    Van Der, P.A.T.6
  • 14
    • 0000995321 scopus 로고    scopus 로고
    • Glycogen storage disease type II: Acid α-glucosidase (acid maltase) deficiency
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Hirschhorn R, Reuser AJJ (2001) Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3389-3420
    • (2001) The Metabolic and Molecular Bases of Inherited Disease, 8th Edn. , pp. 3389-3420
    • Hirschhorn, R.1    Reuser, A.J.J.2
  • 16
    • 33646830132 scopus 로고    scopus 로고
    • A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
    • Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D (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
  • 17
    • 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
    • Klinge L, Straub V, Neudorf U, Schaper J, Bosbach T, Gorlinger K, Wallot M, Richards S, Voit T (2005) 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 15:24-31 (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
  • 19
    • 0021331062 scopus 로고
    • Childhood acid maltase deficiency. A clinical, biochemical, and morphologic study of three patients
    • Matsuishi T, Yoshino M, Terasawa K, Nonaka I (1984) Childhood acid maltase deficiency: a clinical, biochemical, and morphologic study of three patients. Arch Neurol 41:47-52 (Pubitemid 14214309)
    • (1984) Archives of Neurology , vol.41 , Issue.1 , pp. 47-52
    • Matsuishi, T.1    Yoshino, M.2    Terasawa, K.3    Nonaka, I.4
  • 21
    • 0000314638 scopus 로고
    • Over idiopathische hypertrophie van het hart
    • Pompe JC (1932) Over idiopathische hypertrophie van het hart. Ned Tijdschr Geneeskd 76:304-312
    • (1932) Ned Tijdschr Geneeskd , vol.76 , pp. 304-312
    • Pompe, J.C.1
  • 23
    • 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
    • Slonim AE, Bulone L, Goldberg T, Minikes J, Slonim E, Galanko J, Martiniuk F (2007) Modification of the natural history of adult onset acid maltase deficiency by nutrition and exercise therapy. Muscle Nerve 35:70-77 (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
  • 24
  • 27
    • 84876476681 scopus 로고    scopus 로고
    • Enzyme replacement therapy in late-onset Pompe disease: A systematic literature review
    • Toscano A, Schoser B (2013) Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol 260:951-959
    • (2013) J Neurol , vol.260 , pp. 951-959
    • Toscano, A.1    Schoser, B.2
  • 35
    • 0003579225 scopus 로고
    • Clinical examination, differential diagnosis and classification
    • Walton J, Karpati G, Hilton-Jones D (eds) Churchill Livingstone, New York
    • Walton J, Rowland L (1994) Clinical examination, differential diagnosis and classification. In: Walton J, Karpati G, Hilton-Jones D (eds) Disorders of voluntary muscle, 6th edn. Churchill Livingstone, New York, p 1771
    • (1994) Disorders of Voluntary Muscle, 6th Edn. , pp. 1771
    • Walton, J.1    Rowland, L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.