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Volumn 9, Issue 1, 2014, Pages

Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)

Author keywords

Endomyocardial biopsy; Enzyme replacement therapy; Fabry disease; Left ventricular hypertrophy

Indexed keywords

BIOPSY; CARDIAC MUSCLE; CHINA; FABRY DISEASE; FEMALE; GENETICS; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; MALE; MIDDLE AGED; MUTATION; PATHOLOGY; ADULT; ARTICLE; CAPILLARY ENDOTHELIAL CELL; CARDIOVASCULAR MAGNETIC RESONANCE; CHINESE; CLINICAL ARTICLE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ECHOCARDIOGRAPHY; ENZYME REPLACEMENT; GENE MUTATION; HEART MUSCLE BIOPSY; HUMAN TISSUE; RETROSPECTIVE STUDY;

EID: 84904413352     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-96     Document Type: Article
Times cited : (35)

References (67)
  • 2
    • 0035238463 scopus 로고    scopus 로고
    • Fabry disease: Clinical features and recent advances in enzyme replacement therapy
    • Fabry disease: clinical features and recent advances in enzyme replacement therapy. Desnick RJ, Wasserstein MP, Adv Nephrol Necker Hosp 2001 31 317 339
    • (2001) Adv Nephrol Necker Hosp , vol.31 , pp. 317-339
    • Desnick, R.J.1    Wasserstein, M.P.2
  • 4
    • 53749104902 scopus 로고    scopus 로고
    • Fabry's disease
    • Fabry's disease. Zarate YA, Hopkin RJ, Lancet 2008 372 1427 1435
    • (2008) Lancet , vol.372 , pp. 1427-1435
    • Zarate, Y.A.1    Hopkin, R.J.2
  • 6
    • 4644278970 scopus 로고    scopus 로고
    • Severe left ventricular hypertrophy in Anderson-Fabry disease
    • DOI 10.1136/hrt.2003.031666
    • Severe left ventricular hypertrophy in Anderson-Fabry disease. Bhatia GS, Leahy JF, Connolly DL, Davis RC, Heart 2004 90 1136 (Pubitemid 39279896)
    • (2004) Heart , vol.90 , Issue.10 , pp. 1136
    • Bhatia, G.S.1    Leahy, J.F.2    Connolly, D.L.3    Devis, R.C.4
  • 7
    • 38749098726 scopus 로고    scopus 로고
    • Treatment of Anderson-Fabry disease
    • DOI 10.1136/hrt.2006.113886
    • Treatment of Anderson-Fabry disease. Linhart A, Heart 2008 94 138 139 (Pubitemid 351211716)
    • (2008) Heart , vol.94 , Issue.2 , pp. 138-139
    • Linhart, A.1
  • 12
    • 0037177166 scopus 로고    scopus 로고
    • Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
    • DOI 10.1161/01.CIR.0000012626.81324.38
    • Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, Elliott PM, Circulation 2002 105 1407 1411 (Pubitemid 34263268)
    • (2002) Circulation , vol.105 , Issue.12 , pp. 1407-1411
    • Sachdev, B.1    Takenaka, T.2    Teraguchi, H.3    Tei, C.4    Lee, P.5    McKenna, W.J.6    Elliott, P.M.7
  • 16
    • 0042167499 scopus 로고    scopus 로고
    • Fabry disease
    • Fabry disease. Nagueh SF, Heart 2003 89 819 820 (Pubitemid 36920791)
    • (2003) Heart , vol.89 , Issue.8 , pp. 819-820
    • Nagueh, S.F.1
  • 20
    • 84880616117 scopus 로고    scopus 로고
    • Fabry disease: Incidence of the common later-onset-galactosidase A IVS4+919GA mutation in Taiwanese newborns-superiority of DNA-based to enzyme-based newborn screening for common mutations
    • Fabry disease: incidence of the common later-onset -galactosidase A IVS4+919G→A mutation in Taiwanese newborns-superiority of DNA-based to enzyme-based newborn screening for common mutations. Chien YH, Lee NC, Chiang SC, Desnick RJ, Hwu WL, Mol Med 2012 18 780 784
    • (2012) Mol Med , vol.18 , pp. 780-784
    • Chien, Y.H.1    Lee, N.C.2    Chiang, S.C.3    Desnick, R.J.4    Hwu, W.L.5
  • 23
    • 66349092464 scopus 로고    scopus 로고
    • Evaluation of recombinant alpha-galactosidase A therapy for amelioration of the cardiovascular manifestations of Fabry disease: An important role for endomyocardial biopsy
    • Evaluation of recombinant alpha-galactosidase A therapy for amelioration of the cardiovascular manifestations of Fabry disease: an important role for endomyocardial biopsy. Buja LM, Circulation 2009 119 2539 2541
    • (2009) Circulation , vol.119 , pp. 2539-2541
    • Buja, L.M.1
  • 25
    • 84897577226 scopus 로고    scopus 로고
    • High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry
    • High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry. Lee SH, Li CF, Lin HY, Lin CH, Liu HC, Tsai SF, Niu DM, Mol Genet Metab 2014 111 507 512
    • (2014) Mol Genet Metab , vol.111 , pp. 507-512
    • Lee, S.H.1    Li, C.F.2    Lin, H.Y.3    Lin, C.H.4    Liu, H.C.5    Tsai, S.F.6    Niu, D.M.7
  • 26
    • 0031967760 scopus 로고    scopus 로고
    • Identification of a novel point mutation (S65T) in α-galactosidase A gene in Chinese patients with Fabry disease
    • DOI 10.1002/(SICI)1098-1004(1998)11:4<328::AID-HUMU11>3.0.CO;2-N
    • Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease: mutations in brief no. 169: online. Chen CH, Shyu PW, Wu SJ, Sheu SS, Desnick RJ, Hsiao KJ, Hum Mutat 1998 11 328 330 (Pubitemid 28177875)
    • (1998) Human Mutation , vol.11 , Issue.4 , pp. 328-330
    • Chen, C.-H.1    Shyu, P.-W.2    Wu, S.-J.3    Sheu, S.-S.4    Desnick, R.J.5    Hsiao, K.-J.6
  • 30
    • 0022588019 scopus 로고
    • Echocardiographic assessment of left ventricular hypertrophy: Comparison to necropsy findings
    • DOI 10.1016/0002-9149(86)90771-X
    • Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings. Devereux RB, Alonso DR, Lutas EM, Gottlieb GJ, Campo E, Sachs I, Reichek N, Am J Cardiol 1986 57 450 458 (Pubitemid 16119719)
    • (1986) American Journal of Cardiology , vol.57 , Issue.6 , pp. 450-458
    • Devereux, R.B.1    Alonso, D.R.2    Lutas, E.M.3
  • 32
    • 23944473477 scopus 로고    scopus 로고
    • Echocardiography-based left ventricular mass estimation. How should we define hypertrophy?
    • Echocardiography-based left ventricular mass estimation. How should we define hypertrophy? Foppa M, Duncan BB, Rohde LE, Cardiovasc Ultrasound 2005 3 17
    • (2005) Cardiovasc Ultrasound , vol.3 , pp. 17
    • Foppa, M.1    Duncan, B.B.2    Rohde, L.E.3
  • 36
    • 0037192118 scopus 로고    scopus 로고
    • Standardized myocardial sementation and nomenclature for tomographic imaging of the heart: A Statement for Healthcare Professionals from the Cardiac Imaging Committee of the Council on Clinical Cardiology of the American Heart Association
    • DOI 10.1161/hc0402.102975
    • Standardized myocardial segmentation and nomenclature for tomographic imaging of the heart: a statement for healthcare professionals from the Cardiac Imaging Committee of the Council on Clinical Cardiology of the American Heart Association. Cerqueira MD, Weissman NJ, Dilsizian V, Jacobs AK, Kaul S, Laskey WK, Pennell DJ, Rumberger JA, Ryan T, Verani MS, Circulation 2002 105 539 542 (Pubitemid 34262671)
    • (2002) Circulation , vol.105 , Issue.4 , pp. 539-542
    • Cerqueira, M.D.1    Weissman, N.J.2    Dilsizian, V.3    Jacobs, A.K.4    Kaul, S.5    Laskey, W.K.6    Pennell, D.J.7    Rumberger, J.A.8    Ryan, T.9    Verani, M.S.10
  • 37
    • 80052686044 scopus 로고    scopus 로고
    • Histologically measured cardiomyocyte hypertrophy correlates with body height as strongly as with body mass index
    • Histologically measured cardiomyocyte hypertrophy correlates with body height as strongly as with body mass index. Tracy RE, Sander GE, Cardiol Res Pract 2011 2011 658958
    • (2011) Cardiol Res Pract , vol.2011 , pp. 658958
    • Tracy, R.E.1    Sander, G.E.2
  • 40
    • 84859958952 scopus 로고    scopus 로고
    • Cardiomyocyte size estimated from noninvasive measurements of left ventricular wall thickness and chamber diameter
    • Cardiomyocyte size estimated from noninvasive measurements of left ventricular wall thickness and chamber diameter. Tracy RE, J Am Soc Hypertens 2012 6 185 192
    • (2012) J Am Soc Hypertens , vol.6 , pp. 185-192
    • Tracy, R.E.1
  • 41
    • 84894416482 scopus 로고    scopus 로고
    • Eccentric may differ from concentric left ventricular hypertrophy because of variations in cardiomyocyte numbers
    • Eccentric may differ from concentric left ventricular hypertrophy because of variations in cardiomyocyte numbers. Tracy RE, J Card Fail 2013 19 517 522
    • (2013) J Card Fail , vol.19 , pp. 517-522
    • Tracy, R.E.1
  • 43
    • 84883270482 scopus 로고    scopus 로고
    • Newborn screening for Fabry disease in Japan: Prevalence and genotypes of Fabry disease in a pilot study
    • Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study. Inoue T, Hattori K, Ihara K, Ishii A, Nakamura K, Hirose S, J Hum Genet 2013 58 548 552
    • (2013) J Hum Genet , vol.58 , pp. 548-552
    • Inoue, T.1    Hattori, K.2    Ihara, K.3    Ishii, A.4    Nakamura, K.5    Hirose, S.6
  • 47
    • 1642455933 scopus 로고    scopus 로고
    • Sequelae of storage in Fabry disease - Pathology and comparison with other lysosomal storage diseases
    • Sequelae of storage in Fabry disease-pathology and comparison with other lysosomal storage diseases. Elleder M, Acta Paediatr Suppl 2003 92 46 53 discussion 45 (Pubitemid 38134751)
    • (2003) Acta Paediatrica, International Journal of Paediatrics, Supplement , vol.92 , Issue.443 , pp. 46-53
    • Elleder, M.1
  • 48
    • 0019427530 scopus 로고
    • Light- and electron-microscopic histochemistry of Fabry's disease
    • Light- and electron-microscopic histochemistry of Fabry's disease. Faraggiana T, Churg J, Grishman E, Strauss L, Prado A, Bishop DF, Schuchman E, Desnick RJ, Am J Pathol 1981 103 247 262 (Pubitemid 11112979)
    • (1981) American Journal of Pathology , vol.103 , Issue.2 , pp. 247-262
    • Faraggiana, T.1    Churg, J.2    Grishman, E.3
  • 49
    • 74049125336 scopus 로고    scopus 로고
    • Fabry disease: Recent advances in pathology, diagnosis, treatment and monitoring
    • Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring. Hoffmann B, Orphanet J Rare Dis 2009 4 21
    • (2009) Orphanet J Rare Dis , vol.4 , pp. 21
    • Hoffmann, B.1
  • 52
    • 33748881819 scopus 로고    scopus 로고
    • Fabry disease: A morphologic study of 11 cases
    • DOI 10.1038/modpathol.3800634, PII 3800634
    • Fabry disease: a morphologic study of 11 cases. Fischer EG, Moore MJ, Lager DJ, Mod Pathol 2006 19 1295 1301 (Pubitemid 44423075)
    • (2006) Modern Pathology , vol.19 , Issue.10 , pp. 1295-1301
    • Fischer, E.G.1    Moore, M.J.2    Lager, D.J.3
  • 54
    • 66349092222 scopus 로고    scopus 로고
    • Cardiac microvascular pathology in Fabry disease: Evaluation of endomyocardial biopsies before and after enzyme replacement therapy
    • Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy. Thurberg BL, Fallon JT, Mitchell R, Aretz T, Gordon RE, O'Callaghan MW, Circulation 2009 119 2561 2567
    • (2009) Circulation , vol.119 , pp. 2561-2567
    • Thurberg, B.L.1    Fallon, J.T.2    Mitchell, R.3    Aretz, T.4    Gordon, R.E.5    O'Callaghan, M.W.6
  • 58
    • 0036389567 scopus 로고    scopus 로고
    • Fabry disease: Twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes
    • Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. Germain DP, Shabbeer J, Cotigny S, Desnick RJ, Mol Med 2002 8 306 312
    • (2002) Mol Med , vol.8 , pp. 306-312
    • Germain, D.P.1    Shabbeer, J.2    Cotigny, S.3    Desnick, R.J.4
  • 60
    • 84925382421 scopus 로고    scopus 로고
    • Targeted sequencing of over 4000 hypertrophic cardiomyopathy (HCM) patients for mutations causing HCM and Fabry disease: HCM mutations frequent n patients with GLA later0onset mutations, polymorphisms, and variant
    • Targeted sequencing of over 4000 hypertrophic cardiomyopathy (HCM) patients for mutations causing HCM and Fabry disease: HCM mutations frequent n patients with GLA later0onset mutations, polymorphisms, and variant. Desnick RJ, Doheny D, Mol Genet Adn Metab 2014 111 36 s37
    • (2014) Mol Genet Adn Metab , vol.111
    • Desnick, R.J.1    Doheny, D.2
  • 62
    • 7244251627 scopus 로고    scopus 로고
    • Raised HDL cholesterol in Fabry disease: Response to enzyme replacement therapy
    • DOI 10.1023/B:BOLI.0000045841.27968.06
    • Raised HDL cholesterol in Fabry disease: response to enzyme replacement therapy. Cartwright DJ, Cole AL, Cousins AJ, Lee PJ, J Inherit Metab Dis 2004 27 791 793 (Pubitemid 39433611)
    • (2004) Journal of Inherited Metabolic Disease , vol.27 , Issue.6 , pp. 791-793
    • Cartwright, D.J.1    Cole, A.L.2    Cousins, A.J.3    Lee, P.J.4
  • 65
    • 20844452038 scopus 로고    scopus 로고
    • The variation of morphological and functional cardiac manifestation in Fabry disease: Potential implications for the time course of the disease
    • DOI 10.1093/eurheartj/ehi143
    • The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Weidemann F, Breunig F, Beer M, Sandstede J, Stork S, Voelker W, Ertl G, Knoll A, Wanner C, Strotmann JM, Eur Heart J 2005 26 1221 1227 (Pubitemid 40863129)
    • (2005) European Heart Journal , vol.26 , Issue.12 , pp. 1221-1227
    • Weidemann, F.1    Breunig, F.2    Beer, M.3    Sandstede, J.4    Stork, S.5    Voelker, W.6    Ertl, G.7    Knoll, A.8    Wanner, C.9    Strotmann, J.M.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.