메뉴 건너뛰기




Volumn 95, Issue SUPPL. 451, 2006, Pages 77-82

Lysosomal dysfunction, cellular pathology and clinical symptoms: Basic principles

Author keywords

Cellular pathology; Lysosomal storage disorders; Pompe disease

Indexed keywords

ALPHA GLUCOSIDASE; BETA GALACTOSIDASE; DESMIN; DYSTROPHIN; GLUCOSYLCERAMIDE; LYSOSOME ENZYME;

EID: 33646714143     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1080/08035320600618957     Document Type: Conference Paper
Times cited : (21)

References (21)
  • 2
    • 0026731660 scopus 로고
    • Gaucher disease in the neonate: A distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene
    • Sidransky E, Sherer DM, Ginns EI. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res 1992;32:494-8.
    • (1992) Pediatr Res , vol.32 , pp. 494-498
    • Sidransky, E.1    Sherer, D.M.2    Ginns, E.I.3
  • 4
    • 0020320060 scopus 로고
    • Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease
    • Nilsson O, Svennerholm L. Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J Neurochem 1982;39:709-18.
    • (1982) J Neurochem , vol.39 , pp. 709-718
    • Nilsson, O.1    Svennerholm, L.2
  • 7
    • 0000726723 scopus 로고    scopus 로고
    • GM1-Gangliosidosis and Morquio B disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
    • Suzuki Y, Oshima A, Nanba E. GM1-Gangliosidosis and Morquio B disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th edn. New York: McGraw-Hill; 2001. p. 3775-809.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease. 8th Edn. , pp. 3775-3809
    • Suzuki, Y.1    Oshima, A.2    Nanba, E.3
  • 8
    • 0037159549 scopus 로고    scopus 로고
    • Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry
    • Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 2002;113:112-9.
    • (2002) Am J Med , vol.113 , pp. 112-119
    • Weinreb, N.J.1    Charrow, J.2    Andersson, H.C.3    Kaplan, P.4    Kolodny, E.H.5    Mistry, P.6
  • 9
    • 2342666229 scopus 로고    scopus 로고
    • Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
    • Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004; 144:581-8.
    • (2004) J Pediatr , vol.144 , pp. 581-588
    • Wraith, J.E.1    Clarke, L.A.2    Beck, M.3    Kolodny, E.H.4    Pastores, G.M.5    Muenzer, J.6
  • 10
    • 1542669902 scopus 로고    scopus 로고
    • Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    • Harmatz P, Whitley CB, Waber L, Pais R, Steiner R, Plecko B, et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr 2004;144:574-80.
    • (2004) J Pediatr , vol.144 , pp. 574-580
    • Harmatz, P.1    Whitley, C.B.2    Waber, L.3    Pais, R.4    Steiner, R.5    Plecko, B.6
  • 11
  • 12
    • 0035811624 scopus 로고    scopus 로고
    • Safety and efficacy of recombinant human alpha-galactosidase A - Replacement therapy in Fabry's disease
    • Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety and efficacy of recombinant human alpha-galactosidase A - replacement therapy in Fabry's disease. N Engl J Med 2001;345:9-16.
    • (2001) N Engl J Med , vol.345 , pp. 9-16
    • Eng, C.M.1    Guffon, N.2    Wilcox, W.R.3    Germain, D.P.4    Lee, P.5    Waldek, S.6
  • 13
    • 15044356217 scopus 로고    scopus 로고
    • Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
    • Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005;128:671-7.
    • (2005) Brain , vol.128 , pp. 671-677
    • Hagemans, M.L.1    Winkel, L.P.2    Van Doorn, P.A.3    Hop, W.J.4    Loonen, M.C.5    Reuser, A.J.6
  • 14
    • 0042131675 scopus 로고    scopus 로고
    • The natural course of infantile Pompe's disease: 20 Original cases compared with 133 cases from the literature
    • Van den Hout HM, Hop W, Van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003;112:332-40.
    • (2003) Pediatrics , vol.112 , pp. 332-340
    • Van Den Hout, H.M.1    Hop, W.2    Van Diggelen, O.P.3    Smeitink, J.A.4    Smit, G.P.5    Poll-The, B.T.6
  • 16
    • 4143059077 scopus 로고    scopus 로고
    • Popping sarcomere hypothesis explains stretch-induced muscle damage
    • Morgan DL, Proske U. Popping sarcomere hypothesis explains stretch-induced muscle damage. Clin Exp Pharmacol Physiol 2004;31:541-5.
    • (2004) Clin Exp Pharmacol Physiol , vol.31 , pp. 541-545
    • Morgan, D.L.1    Proske, U.2
  • 17
    • 0033118867 scopus 로고    scopus 로고
    • Transmission of forces within mammalian skeletal muscles
    • Monti RJ, Roy RR, Hodgson JA, Edgerton VR. Transmission of forces within mammalian skeletal muscles. J Biomech 1999;32:371-80.
    • (1999) J Biomech , vol.32 , pp. 371-380
    • Monti, R.J.1    Roy, R.R.2    Hodgson, J.A.3    Edgerton, V.R.4
  • 19
    • 15944423889 scopus 로고    scopus 로고
    • Effects of non-contractile inclusions on mechanical performance of skeletal muscle
    • Drost MR, Hesselink RP, Oomens CW, van der Vusse GJ. Effects of non-contractile inclusions on mechanical performance of skeletal muscle. J Biomech 2005;38:1035-43.
    • (2005) J Biomech , vol.38 , pp. 1035-1043
    • Drost, M.R.1    Hesselink, R.P.2    Oomens, C.W.3    Van Der Vusse, G.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.