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Volumn 39, Issue , 2019, Pages 12-24

Lysosomal storage disorders affecting the heart: a review

Author keywords

Fabry Disease; Lysosomal storage disorders; Mucopolysaccharidosis; Pompe Disease

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BETA GLUCURONIDASE; BIOLOGICAL MARKER; CALCIUM CHANNEL BLOCKING AGENT; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLUCOSYLCERAMIDE; GLYCOSAMINOGLYCAN; HYALURONIDASE; HYDROXYCHLOROQUINE; LEVO IDURONIDASE; LYSOSOME ENZYME; N ACETYLGALACTOSAMINE 4 SULFATASE; N ACETYLGALACTOSAMINE 6 SULFATASE; N SULFOGLUCOSAMINE SULFOHYDROLASE; OLIGOSACCHARIDE; SPHINGOMYELIN PHOSPHODIESTERASE; VIRUS VECTOR;

EID: 85059088565     PISSN: 10548807     EISSN: 18791336     Source Type: Journal    
DOI: 10.1016/j.carpath.2018.11.002     Document Type: Review
Times cited : (50)

References (67)
  • 1
    • 34247327312 scopus 로고    scopus 로고
    • The heart in Anderson–Fabry disease and other lysosomal storage disorders
    • [Review. PubMed PMID: 17401074; PubMed Central PMCID: PMC1861503]
    • Linhart, A., Elliott, P. M., The heart in Anderson–Fabry disease and other lysosomal storage disorders. Heart 93:4 (2007), 528–535 [Review. PubMed PMID: 17401074; PubMed Central PMCID: PMC1861503].
    • (2007) Heart , vol.93 , Issue.4 , pp. 528-535
    • Linhart, A.1    Elliott, P.M.2
  • 2
    • 26944475263 scopus 로고    scopus 로고
    • The lysosome turns fifty
    • [PMID 16136179]
    • de Duve, C., The lysosome turns fifty. Nat Cell Biol 7:9 (2005), 847–849, 10.1038/ncb0905-847 [PMID 16136179].
    • (2005) Nat Cell Biol , vol.7 , Issue.9 , pp. 847-849
    • de Duve, C.1
  • 3
    • 80052731002 scopus 로고    scopus 로고
    • Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment
    • [Review. PubMed PMID: 21910565]
    • Hicks, J., Wartchow, E., Mierau, G., Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment. Ultrastruct Pathol 35:5 (2011), 183–196, 10.3109/01913123.2011.601404 [Review. PubMed PMID: 21910565].
    • (2011) Ultrastruct Pathol , vol.35 , Issue.5 , pp. 183-196
    • Hicks, J.1    Wartchow, E.2    Mierau, G.3
  • 4
    • 47049105911 scopus 로고    scopus 로고
    • Reuser A; GAA Database Consortium. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating
    • [PubMed PMID: 18425781]
    • Kroos, M., Pomponio, R. J., van Vliet, L., Palmer, R. E., Phipps, M., Van der Helm, R., et al. Reuser A; GAA Database Consortium. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat 29:6 (2008), E13–E26, 10.1002/humu.20745 [PubMed PMID: 18425781].
    • (2008) Hum Mutat , vol.29 , Issue.6 , pp. E13-E26
    • Kroos, M.1    Pomponio, R.J.2    van Vliet, L.3    Palmer, R.E.4    Phipps, M.5    Van der Helm, R.6
  • 5
    • 84987673756 scopus 로고    scopus 로고
    • Pompe disease: from pathophysiology to therapy and back again
    • [eCollection 2014. Review. PubMed PMID: 25183957; PubMed Central PMCID: PMC4135233]
    • Lim, J. A., Li, L., Raben, N., Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci, 6, 2014, 177, 10.3389/fnagi.2014.00177 [eCollection 2014. Review. PubMed PMID: 25183957; PubMed Central PMCID: PMC4135233].
    • (2014) Front Aging Neurosci , vol.6 , pp. 177
    • Lim, J.A.1    Li, L.2    Raben, N.3
  • 6
    • 84904354369 scopus 로고    scopus 로고
    • Pompe disease: literature review and case series
    • [Review. PubMed PMID: 25037089; PubMed Central PMCID: PMC4311397]
    • Dasouki, M., Jawdat, O., Almadhoun, O., Pasnoor, M., McVey, A. L., Abuzinadah, A., et al. Pompe disease: literature review and case series. Neurol Clin 32:3 (2014), 751–776, ix, 10.1016/j.ncl.2014.04.010 [Review. PubMed PMID: 25037089; PubMed Central PMCID: PMC4311397].
    • (2014) Neurol Clin , vol.32 , Issue.3 , pp. 751-776 ix
    • Dasouki, M.1    Jawdat, O.2    Almadhoun, O.3    Pasnoor, M.4    McVey, A.L.5    Abuzinadah, A.6
  • 7
    • 84880823455 scopus 로고    scopus 로고
    • Pompe disease: early diagnosis and early treatment make a difference
    • [Epub 2013 Apr 28. Review. PubMed PMID: 23632029]
    • Chien, Y. H., Hwu, W. L., Lee, N. C., Pompe disease: early diagnosis and early treatment make a difference. Pediatr Neonatol 54:4 (2013), 219–227, 10.1016/j.pedneo.2013.03.009 [Epub 2013 Apr 28. Review. PubMed PMID: 23632029].
    • (2013) Pediatr Neonatol , vol.54 , Issue.4 , pp. 219-227
    • Chien, Y.H.1    Hwu, W.L.2    Lee, N.C.3
  • 8
    • 0036086765 scopus 로고    scopus 로고
    • Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease)
    • [Review. PubMed PMID: 11949932]
    • Raben, N., Plotz, P., Byrne, B. J., Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med 2:2 (2002), 145–166 [Review. PubMed PMID: 11949932].
    • (2002) Curr Mol Med , vol.2 , Issue.2 , pp. 145-166
    • Raben, N.1    Plotz, P.2    Byrne, B.J.3
  • 9
    • 85059052747 scopus 로고    scopus 로고
    • Cardiomyopathy and myocardial involvement in systemic disease. In: Hurst WH, editor in chief, Logue RB, Rackely CE, Schlant RC, Sonenblick EH, Wallace AG, Wenger NK, editors. Hurst's the heart, 6th ed: McGraw Hill Book Company; 1986
    • Wenger NK, Goodwin JF, Roberts WC. Cardiomyopathy and myocardial involvement in systemic disease. In: Hurst WH, editor in chief, Logue RB, Rackely CE, Schlant RC, Sonenblick EH, Wallace AG, Wenger NK, editors. Hurst's the heart, 6th ed: McGraw Hill Book Company; 1986, p.1181–1249.
    • Wenger, N.K.1    Goodwin, J.F.2    Roberts, W.C.3
  • 10
    • 0042691321 scopus 로고
    • Glycogen storage disease of the myocardium
    • [PubMed PMID: 13480207]
    • Mazzitello, W. F., Briggs, J. F., Glycogen storage disease of the myocardium. Dis Chest 32:6 (1957), 636–645 [PubMed PMID: 13480207].
    • (1957) Dis Chest , vol.32 , Issue.6 , pp. 636-645
    • Mazzitello, W.F.1    Briggs, J.F.2
  • 11
    • 84856210111 scopus 로고    scopus 로고
    • The genotype-phenotype correlation in Pompe disease
    • [Epub 2012 Jan 17. Review. PubMed PMID: 22253258]
    • Kroos, M., Hoogeveen-Westerveld, M., van der Ploeg, A., Reuser, A. J., The genotype-phenotype correlation in Pompe disease. Am J Med Genet C Semin Med Genet 160C:1 (2012), 59–68, 10.1002/ajmg.c.31318 [Epub 2012 Jan 17. Review. PubMed PMID: 22253258].
    • (2012) Am J Med Genet C Semin Med Genet , vol.160C , Issue.1 , pp. 59-68
    • Kroos, M.1    Hoogeveen-Westerveld, M.2    van der Ploeg, A.3    Reuser, A.J.4
  • 12
    • 0012050609 scopus 로고    scopus 로고
    • Cardiovascular effects of systemic diseases and conditions
    • Malcolm Silver Avrum I. Gotlieb Frederick R. Schoen 3rd ed. Churchill Livingston Pennyslvannia
    • Lester, Wanda M., Avrum, I., Cardiovascular effects of systemic diseases and conditions. Silver, Malcolm, Gotlieb, Avrum I., Schoen, Frederick R., (eds.) Cardiovascular pathology, 3rd ed., 2001, Churchill Livingston, Pennyslvannia, 493–540.
    • (2001) Cardiovascular pathology , pp. 493-540
    • Lester, W.M.1    Avrum, I.2
  • 15
    • 84981731627 scopus 로고    scopus 로고
    • A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review
    • [Epub 2016 Jul 25. Review. PubMed PMID: 27497751]
    • Bottillo, I., Giordano, C., Cerbelli, B., D'Angelantonio, D., Lipari, M., Polidori, T., et al. A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review. Cardiovasc Pathol 25:5 (2016), 423–431, 10.1016/j.carpath.2016.07.005 [Epub 2016 Jul 25. Review. PubMed PMID: 27497751].
    • (2016) Cardiovasc Pathol , vol.25 , Issue.5 , pp. 423-431
    • Bottillo, I.1    Giordano, C.2    Cerbelli, B.3    D'Angelantonio, D.4    Lipari, M.5    Polidori, T.6
  • 16
    • 85059074172 scopus 로고    scopus 로고
    • Danon disease for the cardiologist: case report and review of the literature
    • [eCollection 2017 Mar. PubMed PMID: 28638575; PubMed Central PMCID: PMC5473185]
    • D'souza, R. S., Mestroni, L., Taylor, M. R. G., Danon disease for the cardiologist: case report and review of the literature. J Community Hosp Intern Med Perspect 7:2 (2017), 107–114, 10.1080/2000966620171324239 [eCollection 2017 Mar. PubMed PMID: 28638575; PubMed Central PMCID: PMC5473185].
    • (2017) J Community Hosp Intern Med Perspect , vol.7 , Issue.2 , pp. 107-114
    • D'souza, R.S.1    Mestroni, L.2    Taylor, M.R.G.3
  • 17
    • 0019378026 scopus 로고
    • Lysosomal glycogen storage disease with normal acid maltase
    • Danon, M. J., Oh, S. J., DiMauro, S., et al. Lysosomal glycogen storage disease with normal acid maltase. Neurology 31 (1981), 51–57.
    • (1981) Neurology , vol.31 , pp. 51-57
    • Danon, M.J.1    Oh, S.J.2    DiMauro, S.3
  • 18
    • 34548602014 scopus 로고    scopus 로고
    • LAMP-2 deficiency (Danon disease)
    • [PubMed PMID: 17915578; PubMed Central PMCID: PMC2949328]
    • Di Mauro, S., Tanji, K., Hirano, M., LAMP-2 deficiency (Danon disease). Acta Myol 26:1 (2007), 79–82 [PubMed PMID: 17915578; PubMed Central PMCID: PMC2949328].
    • (2007) Acta Myol , vol.26 , Issue.1 , pp. 79-82
    • Di Mauro, S.1    Tanji, K.2    Hirano, M.3
  • 19
    • 84977635229 scopus 로고    scopus 로고
    • Severe left ventricular hypertrophy and marked cardiac fibrosis in Danon disease
    • [Epub 2016 Jul1. PubMed PMID: 27395820]
    • Stokes, M. B., Taylor, A. J., McLean, C. A., D'Arcy, C. E., Mariani, J. A., Severe left ventricular hypertrophy and marked cardiac fibrosis in Danon disease. Int J Cardiol 221 (2016), 14–16, 10.1016/j.ijcard.2016.06.311 [Epub 2016 Jul1. PubMed PMID: 27395820].
    • (2016) Int J Cardiol , vol.221 , pp. 14-16
    • Stokes, M.B.1    Taylor, A.J.2    McLean, C.A.3    D'Arcy, C.E.4    Mariani, J.A.5
  • 20
    • 36348984527 scopus 로고    scopus 로고
    • Danon disease as a cause of autophagic vacuolar myopathy
    • [Review. PubMed PMID: 18377432]
    • Yang, Z., Vatta, M., Danon disease as a cause of autophagic vacuolar myopathy. Congenit Heart Dis 2:6 (2007), 404–409, 10.1111/j.1747-0803.2007.00132.x [Review. PubMed PMID: 18377432].
    • (2007) Congenit Heart Dis , vol.2 , Issue.6 , pp. 404-409
    • Yang, Z.1    Vatta, M.2
  • 21
    • 85059102239 scopus 로고    scopus 로고
    • LAMP2 mutation (Danon DISEASE)
    • D. V. Miller M. P. Revelo Amirsys Inc. Manitoba
    • Butany, Jagdish, Ibrahim, Amir, LAMP2 mutation (Danon DISEASE). Miller, D. V., Revelo, M. P., (eds.) Diagnostic pathology cardiovascular, 2014, Amirsys Inc., Manitoba, 1–20.
    • (2014) Diagnostic pathology cardiovascular , pp. 1-20
    • Butany, J.1    Ibrahim, A.2
  • 22
    • 35248839985 scopus 로고    scopus 로고
    • Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I
    • [Epub 2007 Jun 14. PubMed PMID: 17574537; PubMed Central PMCID: PMC2798132]
    • Soliman, O. I., Timmermans, R. G., Nemes, A., Vletter, W. B., Wilson, J. H., ten Cate, F. J., et al. Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I. J Inherit Metab Dis 30:5 (2007), 750–757 [Epub 2007 Jun 14. PubMed PMID: 17574537; PubMed Central PMCID: PMC2798132].
    • (2007) J Inherit Metab Dis , vol.30 , Issue.5 , pp. 750-757
    • Soliman, O.I.1    Timmermans, R.G.2    Nemes, A.3    Vletter, W.B.4    Wilson, J.H.5    ten Cate, F.J.6
  • 23
    • 82955163032 scopus 로고    scopus 로고
    • Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
    • [Epub 2011 Jul 9.Review. PubMed PMID: 21744090; PubMed Central PMCID: PMC3228957]
    • Braunlin, E. A., Harmatz, P. R., Scarpa, M., Furlanetto, B., Kampmann, C., Loehr, J. P., et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34:6 (2011), 1183–1197, 10.1007/s10545-011-9359-8 [Epub 2011 Jul 9.Review. PubMed PMID: 21744090; PubMed Central PMCID: PMC3228957].
    • (2011) J Inherit Metab Dis , vol.34 , Issue.6 , pp. 1183-1197
    • Braunlin, E.A.1    Harmatz, P.R.2    Scarpa, M.3    Furlanetto, B.4    Kampmann, C.5    Loehr, J.P.6
  • 24
    • 0031834476 scopus 로고    scopus 로고
    • Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders — clinical and echocardiographic findings in 64 patients
    • Dangel, J. H., Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders — clinical and echocardiographic findings in 64 patients. Eur J Pediatr 157 (1998), 534–538.
    • (1998) Eur J Pediatr , vol.157 , pp. 534-538
    • Dangel, J.H.1
  • 25
    • 66149099295 scopus 로고    scopus 로고
    • The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses
    • Fesslová V., Corti, P., Sersale, G., et al. The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses. Cardiol Young 19 (2009), 170–178.
    • (2009) Cardiol Young , vol.19 , pp. 170-178
    • Fesslová, V.1    Corti, P.2    Sersale, G.3
  • 26
    • 0026503284 scopus 로고
    • Valvular heart disease in four patients with Maroteaux–Lamy syndrome
    • Tan, C. T. T., Schaff, H. V., Miller, F. A., Edwards, W. D., Karnes, P. S., Valvular heart disease in four patients with Maroteaux–Lamy syndrome. Circulation 85 (1992), 188–195.
    • (1992) Circulation , vol.85 , pp. 188-195
    • Tan, C.T.T.1    Schaff, H.V.2    Miller, F.A.3    Edwards, W.D.4    Karnes, P.S.5
  • 27
    • 0017145225 scopus 로고
    • The heart in the Hurler syndrome. Gross, histologic and ultrastructural observations in five necropsy cases
    • Renteria, V. G., Ferrans, V. J., Roberts, W. C., The heart in the Hurler syndrome. Gross, histologic and ultrastructural observations in five necropsy cases. Am J Cardiol 38 (1976), 487–501.
    • (1976) Am J Cardiol , vol.38 , pp. 487-501
    • Renteria, V.G.1    Ferrans, V.J.2    Roberts, W.C.3
  • 28
    • 84900339559 scopus 로고    scopus 로고
    • Unexpected coronary artery findings in mucopolysaccharidosis. Report of four cases and literature review
    • [Epub 2014 Jan 10. Review. PubMed PMID: 24508139]
    • Braunlin, E., Orchard, P. J., Whitley, C. B., Schroeder, L., Reed, R. C., Manivel, J. C., Unexpected coronary artery findings in mucopolysaccharidosis. Report of four cases and literature review. Cardiovasc Pathol 23:3 (2014), 145–151, 10.1016/j.carpath.2014.01.001 [Epub 2014 Jan 10. Review. PubMed PMID: 24508139].
    • (2014) Cardiovasc Pathol , vol.23 , Issue.3 , pp. 145-151
    • Braunlin, E.1    Orchard, P.J.2    Whitley, C.B.3    Schroeder, L.4    Reed, R.C.5    Manivel, J.C.6
  • 29
    • 85000702193 scopus 로고    scopus 로고
    • Aortic root dilatation in mucopolysaccharidosis I– VII
    • [pii: E2004. PubMed PMID: 27916847; PubMed Central PMCID: PMC5187804]
    • Bolourchi, M., Renella, P., Wang, R. Y., Aortic root dilatation in mucopolysaccharidosis I– VII. Int J Mol Sci, 17(12), 2016 [pii: E2004. PubMed PMID: 27916847; PubMed Central PMCID: PMC5187804].
    • (2016) Int J Mol Sci , vol.17 , Issue.12
    • Bolourchi, M.1    Renella, P.2    Wang, R.Y.3
  • 30
    • 0019466750 scopus 로고
    • Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation
    • [PubMed PMID: 6116856]
    • Hobbs, J. R., Hugh-Jones, K., Barrett, A. J., Byrom, N., Chambers, D., Henry, K., et al. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 2:8249 (1981), 709–712 [PubMed PMID: 6116856].
    • (1981) Lancet , vol.2 , Issue.8249 , pp. 709-712
    • Hobbs, J.R.1    Hugh-Jones, K.2    Barrett, A.J.3    Byrom, N.4    Chambers, D.5    Henry, K.6
  • 31
    • 85019720111 scopus 로고    scopus 로고
    • Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I
    • [Epub 2017 May 30. Review. PubMed PMID: 28560469; PubMed Central PMCID: PMC5500670]
    • Penati, R., Fumagalli, F., Calbi, V., Bern ardo, M. E., Aiuti, A., Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I. J Inherit Metab Dis 40:4 (2017), 543–554, 10.1007/s10545-017-0052-4 [Epub 2017 May 30. Review. PubMed PMID: 28560469; PubMed Central PMCID: PMC5500670].
    • (2017) J Inherit Metab Dis , vol.40 , Issue.4 , pp. 543-554
    • Penati, R.1    Fumagalli, F.2    Calbi, V.3    Bern ardo, M.E.4    Aiuti, A.5
  • 32
    • 0037007404 scopus 로고    scopus 로고
    • Gaucher's disease with myocardial involvement in pregnancy
    • [PubMed PMID: 12163901]
    • Torloni, M. R., Franco, K., Sass, N., Gaucher's disease with myocardial involvement in pregnancy. Sao Paulo Med J 120:3 (2002), 90–92 [PubMed PMID: 12163901].
    • (2002) Sao Paulo Med J , vol.120 , Issue.3 , pp. 90-92
    • Torloni, M.R.1    Franco, K.2    Sass, N.3
  • 33
    • 0033032247 scopus 로고    scopus 로고
    • Gaucher's disease with valve calcification: possible role of Gaucher cells, bone matrix proteins and integrins
    • [PubMed PMID: 10079781]
    • Veinot, J. P., Elstein, D., Hanania, D., Abrahamov, A., Srivatsa, S., Zimran, A., Gaucher's disease with valve calcification: possible role of Gaucher cells, bone matrix proteins and integrins. Can J Cardiol 15:2 (1999), 211–216 [PubMed PMID: 10079781].
    • (1999) Can J Cardiol , vol.15 , Issue.2 , pp. 211-216
    • Veinot, J.P.1    Elstein, D.2    Hanania, D.3    Abrahamov, A.4    Srivatsa, S.5    Zimran, A.6
  • 34
    • 0015750541 scopus 로고
    • Anderson–Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain
    • [PubMed PMID: 4204059; PubMed Central PMCID: PMC1083608]
    • Kahn, P., Anderson–Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain. J Neurol Neurosurg Psychiatry 36:6 (1973), 1053–1062 [PubMed PMID: 4204059; PubMed Central PMCID: PMC1083608].
    • (1973) J Neurol Neurosurg Psychiatry , vol.36 , Issue.6 , pp. 1053-1062
    • Kahn, P.1
  • 35
    • 0037452544 scopus 로고    scopus 로고
    • Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
    • [Review. PubMed PMID: 12585833]
    • Desnick, R. J., Brady, R., Barranger, J., Collins, A. J., Germain, D. P., Goldman, M., et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138:4 (2003), 338–346 [Review. PubMed PMID: 12585833].
    • (2003) Ann Intern Med , vol.138 , Issue.4 , pp. 338-346
    • Desnick, R.J.1    Brady, R.2    Barranger, J.3    Collins, A.J.4    Germain, D.P.5    Goldman, M.6
  • 36
    • 84939811174 scopus 로고    scopus 로고
    • Pathology and function of conduction tissue in Fabry disease cardiomyopathy
    • [Epub 2015 Jun 5. PubMed PMID: 26047621]
    • Frustaci, A., Morgante, E., Russo, M. A., Scopelliti, F., Grande, C., Verardo, R., et al. Pathology and function of conduction tissue in Fabry disease cardiomyopathy. Circ Arrhythm Electrophysiol 8:4 (2015), 799–805, 10.1161/CIRCEP.114.002569 [Epub 2015 Jun 5. PubMed PMID: 26047621].
    • (2015) Circ Arrhythm Electrophysiol , vol.8 , Issue.4 , pp. 799-805
    • Frustaci, A.1    Morgante, E.2    Russo, M.A.3    Scopelliti, F.4    Grande, C.5    Verardo, R.6
  • 37
    • 84928416609 scopus 로고    scopus 로고
    • Anderson–Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment
    • [Review. PubMed PMID: 25030479]
    • Putko, B. N., Wen, K., Thompson, R. B., Mullen, J., Shanks, M., Yogasundaram, H., et al. Anderson–Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment. Heart Fail Rev 20:2 (2015), 179–191, 10.1007/s10741-014-9452-9 [Review. PubMed PMID: 25030479].
    • (2015) Heart Fail Rev , vol.20 , Issue.2 , pp. 179-191
    • Putko, B.N.1    Wen, K.2    Thompson, R.B.3    Mullen, J.4    Shanks, M.5    Yogasundaram, H.6
  • 41
    • 16844368691 scopus 로고    scopus 로고
    • Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy
    • [discussion 9-10. Review. PubMed PMID: 15895705]
    • Shah, J. S., Elliott, P. M., Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy. Acta Paediatr Suppl 94:447 (2005), 11–14 [discussion 9-10. Review. PubMed PMID: 15895705].
    • (2005) Acta Paediatr Suppl , vol.94 , Issue.447 , pp. 11-14
    • Shah, J.S.1    Elliott, P.M.2
  • 42
    • 0036858794 scopus 로고    scopus 로고
    • Fabry disease: focus on cardiac manifestations and molecular mechanisms
    • [PubMed PMID: 12439642]
    • Perrot, A., Osterziel, K. J., Beck, M., Dietz, R., Kampmann, C., Fabry disease: focus on cardiac manifestations and molecular mechanisms. Herz 27:7 (2002), 699–702 [PubMed PMID: 12439642].
    • (2002) Herz , vol.27 , Issue.7 , pp. 699-702
    • Perrot, A.1    Osterziel, K.J.2    Beck, M.3    Dietz, R.4    Kampmann, C.5
  • 43
    • 85021376676 scopus 로고    scopus 로고
    • Clinical features, diagnosis, and management of patients with Anderson–Fabry cardiomyopathy
    • [Epub 2017 May 4. Review. PubMed PMID: 28668140]
    • Yogasundaram, H., Kim, D., Oudit, O., Thompson, R. B., Weidemann, F., Oudit, G. Y., Clinical features, diagnosis, and management of patients with Anderson–Fabry cardiomyopathy. Can J Cardiol 33:7 (2017), 883–897, 10.1016/j.cjca.2017.04.015 [Epub 2017 May 4. Review. PubMed PMID: 28668140].
    • (2017) Can J Cardiol , vol.33 , Issue.7 , pp. 883-897
    • Yogasundaram, H.1    Kim, D.2    Oudit, O.3    Thompson, R.B.4    Weidemann, F.5    Oudit, G.Y.6
  • 44
    • 33748746594 scopus 로고    scopus 로고
    • Fabry disease: guidelines for the evaluation and management of multi-organ system involvement
    • [Review. PubMed PMID: 16980809]
    • Eng, C. M., Germain, D. P., Banikazemi, M., Warnock, D. G., Wanner, C., Hopkin, R. J., et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 8:9 (2006), 539–548 [Review. PubMed PMID: 16980809].
    • (2006) Genet Med , vol.8 , Issue.9 , pp. 539-548
    • Eng, C.M.1    Germain, D.P.2    Banikazemi, M.3    Warnock, D.G.4    Wanner, C.5    Hopkin, R.J.6
  • 45
    • 84930011520 scopus 로고    scopus 로고
    • Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: a Fabry outcome survey analysis
    • [eCollection 2015 Jun. PubMed PMID: 26937390; PubMed Central PMCID: PMC4750577]
    • Beck, M., Hughes, D., Kampmann, C., Larroque, S., Mehta, A., Pintos-Morell, G., et al. Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: a Fabry outcome survey analysis. Mol Genet Metab Rep 3 (2015), 21–27, 10.1016/j.ymgmr.2015.02.002 [eCollection 2015 Jun. PubMed PMID: 26937390; PubMed Central PMCID: PMC4750577].
    • (2015) Mol Genet Metab Rep , vol.3 , pp. 21-27
    • Beck, M.1    Hughes, D.2    Kampmann, C.3    Larroque, S.4    Mehta, A.5    Pintos-Morell, G.6
  • 46
    • 84919781513 scopus 로고    scopus 로고
    • Hydroxychloroquine-induced cardiomyopathy: case report, pathophysiology, diagnosis, and treatment
    • [Epub 2014 Aug 23. Review. PubMed PMID: 25475472]
    • Yogasundaram, H., Putko, B. N., Tien, J., Paterson, D. I., Cujec, B., Ringrose, J., et al. Hydroxychloroquine-induced cardiomyopathy: case report, pathophysiology, diagnosis, and treatment. Can J Cardiol 30:12 (2014), 1706–1715, 10.1016/j.cjca.2014.08.016 [Epub 2014 Aug 23. Review. PubMed PMID: 25475472].
    • (2014) Can J Cardiol , vol.30 , Issue.12 , pp. 1706-1715
    • Yogasundaram, H.1    Putko, B.N.2    Tien, J.3    Paterson, D.I.4    Cujec, B.5    Ringrose, J.6
  • 47
    • 85042856969 scopus 로고    scopus 로고
    • Hydroxychloroquine-induced restrictive cardiomyopathy: a case report
    • [Epub 2018 Jan 20. PubMed PMID: 29353247]
    • Dogar, M. U., Shah, N. N., Ishtiaq, S., Shah, P. N., Shah, P., Mathew, S., et al. Hydroxychloroquine-induced restrictive cardiomyopathy: a case report. Postgrad Med J 94:1109 (2018), 185–186, 10.1136/postgradmedj-2017-135236 [Epub 2018 Jan 20. PubMed PMID: 29353247].
    • (2018) Postgrad Med J , vol.94 , Issue.1109 , pp. 185-186
    • Dogar, M.U.1    Shah, N.N.2    Ishtiaq, S.3    Shah, P.N.4    Shah, P.5    Mathew, S.6
  • 48
    • 0036167225 scopus 로고    scopus 로고
    • Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
    • [PubMed PMID: 11827995; PubMed Central PMCID: PMC150860]
    • Arad, M., Benson, D. W., Perez-Atayde, A. R., McKenna, W. J., Sparks, E. A., Kanter, R. J., et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 109:3 (2002), 357–362 [PubMed PMID: 11827995; PubMed Central PMCID: PMC150860].
    • (2002) J Clin Invest , vol.109 , Issue.3 , pp. 357-362
    • Arad, M.1    Benson, D.W.2    Perez-Atayde, A.R.3    McKenna, W.J.4    Sparks, E.A.5    Kanter, R.J.6
  • 49
    • 85042485875 scopus 로고    scopus 로고
    • Cardiac manifestations of PRKAG2 mutation
    • [PubMed PMID: 29298659; PubMed Central PMCID: PMC5751825]
    • Banankhah, P., Fishbein, G. A., Dota, A., Ardehali, R., Cardiac manifestations of PRKAG2 mutation. BMC Med Genet, 19(1), 2018, 1, 10.1186/s12881-017-0512-6 [PubMed PMID: 29298659; PubMed Central PMCID: PMC5751825].
    • (2018) BMC Med Genet , vol.19 , Issue.1 , pp. 1
    • Banankhah, P.1    Fishbein, G.A.2    Dota, A.3    Ardehali, R.4
  • 50
    • 84884971301 scopus 로고    scopus 로고
    • Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management
    • [Review. PubMed PMID: 24082366; PubMed Central PMCID: PMC3783139]
    • Meyers, D. E., Basha, H. I., Koenig, M. K., Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management. Tex Heart Inst J 40:4 (2013), 385–394 [Review. PubMed PMID: 24082366; PubMed Central PMCID: PMC3783139].
    • (2013) Tex Heart Inst J , vol.40 , Issue.4 , pp. 385-394
    • Meyers, D.E.1    Basha, H.I.2    Koenig, M.K.3
  • 51
    • 18244413442 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy
    • [PubMed PMID: 9811342;PubMed Central PMCID: PMC1853408]
    • Arbustini, E., Diegoli, M., Fasani, R., Grasso, M., Morbini, P., Banchieri, N., et al. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. Am J Pathol 153:5 (1998), 1501–1510 [PubMed PMID: 9811342;PubMed Central PMCID: PMC1853408].
    • (1998) Am J Pathol , vol.153 , Issue.5 , pp. 1501-1510
    • Arbustini, E.1    Diegoli, M.2    Fasani, R.3    Grasso, M.4    Morbini, P.5    Banchieri, N.6
  • 52
    • 85030619064 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy
    • [. Review. PubMed PMID: 28912181; PubMed Central PMCID: PMC5654557]
    • Marian, A. J., Braunwald, E., Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res 121:7 (2017), 749–770, 10.1161/CIRCRESAHA.117.311059 [. Review. PubMed PMID: 28912181; PubMed Central PMCID: PMC5654557].
    • (2017) Circ Res , vol.121 , Issue.7 , pp. 749-770
    • Marian, A.J.1    Braunwald, E.2
  • 53
    • 75949091146 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: preclinical and early phenotype
    • [Epub 2009 Sep 26. Review. Erratum in: J Cardiovasc Transl Res. 2013 Aug;6(4):662. PubMed PMID: 20560004]
    • Ho, C. Y., Hypertrophic cardiomyopathy: preclinical and early phenotype. J Cardiovasc Transl Res 2:4 (2009), 462–470, 10.1007/s12265-009-9124-7 [Epub 2009 Sep 26. Review. Erratum in: J Cardiovasc Transl Res. 2013 Aug;6(4):662. PubMed PMID: 20560004].
    • (2009) J Cardiovasc Transl Res , vol.2 , Issue.4 , pp. 462-470
    • Ho, C.Y.1
  • 54
    • 2642531954 scopus 로고    scopus 로고
    • The pathology of hypertrophic cardiomyopathy
    • [Review. PubMed PMID: 15139989]
    • Hughes, S. E., The pathology of hypertrophic cardiomyopathy. Histopathology 44:5 (2004), 412–427 [Review. PubMed PMID: 15139989].
    • (2004) Histopathology , vol.44 , Issue.5 , pp. 412-427
    • Hughes, S.E.1
  • 55
    • 84874524757 scopus 로고    scopus 로고
    • Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era
    • [Epub 2012 Dec 27. Review. PubMed PMID: 23274168]
    • Teekakirikul, P., Kelly, M. A., Rehm, H. L., Lakdawala, N. K., Funke, B. H., Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn 15:2 (2013), 158–170, 10.1016/j.jmoldx.2012.09.002 [Epub 2012 Dec 27. Review. PubMed PMID: 23274168].
    • (2013) J Mol Diagn , vol.15 , Issue.2 , pp. 158-170
    • Teekakirikul, P.1    Kelly, M.A.2    Rehm, H.L.3    Lakdawala, N.K.4    Funke, B.H.5
  • 56
    • 85030613629 scopus 로고    scopus 로고
    • Hypertrophic obstructive cardiomyopathy: surgical myectomy and septal ablation
    • [Review. PubMed PMID: 28912182]
    • Nishimura, R. A., Seggewiss, H., Schaff, H. V., Hypertrophic obstructive cardiomyopathy: surgical myectomy and septal ablation. Circ Res 121:7 (2017), 771–783, 10.1161/CIRCRESAHA.116.309348 [Review. PubMed PMID: 28912182].
    • (2017) Circ Res , vol.121 , Issue.7 , pp. 771-783
    • Nishimura, R.A.1    Seggewiss, H.2    Schaff, H.V.3
  • 57
    • 85059091439 scopus 로고    scopus 로고
    • Laboratory diagnosis of lysosomal storage diseases
    • A. Mehta M. Beck G. Sunder-Plassmann Oxford PharmaGenesis Oxford [Chapter 8]
    • Bekri, S., Laboratory diagnosis of lysosomal storage diseases. Mehta, A., Beck, M., Sunder-Plassmann, G., (eds.) Fabry disease: perspectives from 5 years of FOS, 2006, Oxford PharmaGenesis, Oxford [Chapter 8].
    • (2006) Fabry disease: perspectives from 5 years of FOS
    • Bekri, S.1
  • 58
    • 4544294311 scopus 로고    scopus 로고
    • Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy
    • Meikle, P. J., Ranieri, E., Simonsen, H., Rozaklis, T., Ramsay, S. L., Whitfield, P. D., et al. Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics 114 (2004), 909–916.
    • (2004) Pediatrics , vol.114 , pp. 909-916
    • Meikle, P.J.1    Ranieri, E.2    Simonsen, H.3    Rozaklis, T.4    Ramsay, S.L.5    Whitfield, P.D.6
  • 59
    • 0016640375 scopus 로고
    • Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography
    • Humbel, R., Collart, M., Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography. Clin Chim Acta 60 (1975), 143–145.
    • (1975) Clin Chim Acta , vol.60 , pp. 143-145
    • Humbel, R.1    Collart, M.2
  • 60
    • 8144226425 scopus 로고    scopus 로고
    • Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in uteroindicators of lysosomal storage diseases
    • Ramsay, S. L., Maire, I., Bindloss, C., Fuller, M., Whitfield, P. D., Piraud, M., et al. Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in uteroindicators of lysosomal storage diseases. Mol Genet Metab 83 (2004), 231–238.
    • (2004) Mol Genet Metab , vol.83 , pp. 231-238
    • Ramsay, S.L.1    Maire, I.2    Bindloss, C.3    Fuller, M.4    Whitfield, P.D.5    Piraud, M.6
  • 61
    • 0021085107 scopus 로고
    • Partial enzyme deficiencies: residual activities and the development of neurological disorders
    • Conzelmann, E., Sandhoff, K., Partial enzyme deficiencies: residual activities and the development of neurological disorders. Dev Neurosci 6 (1983), 58–71.
    • (1983) Dev Neurosci , vol.6 , pp. 58-71
    • Conzelmann, E.1    Sandhoff, K.2
  • 62
    • 0018068562 scopus 로고
    • Alpha-glucosidase activity in human leucocytes: choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state
    • Taniguchi, N., Kato, E., Yoshida, H., Iwaki, S., Ohki, T., Koizumi, S., Alpha-glucosidase activity in human leucocytes: choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state. Clin Chim Acta, 89, 1978, 293e9.
    • (1978) Clin Chim Acta , vol.89 , pp. 293e9
    • Taniguchi, N.1    Kato, E.2    Yoshida, H.3    Iwaki, S.4    Ohki, T.5    Koizumi, S.6
  • 63
    • 0021815441 scopus 로고
    • Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells
    • Shin, Y. S., Endres, W., Unterreithmeier, J., Rieth, M., Schaub, J., Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells. Clin Chim Acta, 148, 1985, 9e19.
    • (1985) Clin Chim Acta , vol.148 , pp. 9e19
    • Shin, Y.S.1    Endres, W.2    Unterreithmeier, J.3    Rieth, M.4    Schaub, J.5
  • 64
    • 0033821427 scopus 로고    scopus 로고
    • Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders
    • Umapathysivam, K., Whittle, A. M., Ranieri, E., Bindloss, C., Ravenscroft, E. M., van Diggelen, O. P., et al. Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. Clin Chem, 46, 2000, 1318e25.
    • (2000) Clin Chem , vol.46 , pp. 1318e25
    • Umapathysivam, K.1    Whittle, A.M.2    Ranieri, E.3    Bindloss, C.4    Ravenscroft, E.M.5    van Diggelen, O.P.6
  • 65
    • 79961100778 scopus 로고    scopus 로고
    • Lysosomal storage disorders: molecular basis and laboratory testing. Hum Genomics
    • [Review. PubMed PMID: 21504867; PubMed Central PMCID: PMC3500170]
    • Filocamo, M., Morrone, A., Lysosomal storage disorders: molecular basis and laboratory testing. Hum Genomics., 5(3), 2011, 156–169 [Review. PubMed PMID: 21504867; PubMed Central PMCID: PMC3500170].
    • (2011) , vol.5 , Issue.3 , pp. 156-169
    • Filocamo, M.1    Morrone, A.2
  • 66
    • 84873184451 scopus 로고    scopus 로고
    • New strategies for the treatment of lysosomal storage diseases (review)
    • [Epub 2012 Nov 19. Review. PubMed PMID: 23165354]
    • Parenti, G., Pignata, C., Vajro, P., Salerno, M., New strategies for the treatment of lysosomal storage diseases (review). Int J Mol Med 31:1 (2013), 11–20, 10.3892/ijmm.2012.1187 [Epub 2012 Nov 19. Review. PubMed PMID: 23165354].
    • (2013) Int J Mol Med , vol.31 , Issue.1 , pp. 11-20
    • Parenti, G.1    Pignata, C.2    Vajro, P.3    Salerno, M.4
  • 67
    • 84983507497 scopus 로고    scopus 로고
    • Combination therapies for lysosomal storage diseases: a complex answer to a simple problem
    • [Review. PubMed PMID: 27491211; PubMed Central PMCID: PMC5374980]
    • Macauley, S. L., Combination therapies for lysosomal storage diseases: a complex answer to a simple problem. Pediatr Endocrinol Rev 13:Suppl. 1 (2016), 639–648 [Review. PubMed PMID: 27491211; PubMed Central PMCID: PMC5374980].
    • (2016) Pediatr Endocrinol Rev , vol.13 , pp. 639-648
    • Macauley, S.L.1


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