TY - STD TI - Neufeld EF, Muenzer J: The mucoplysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The metabolic and molecular bases of inherited disease, 8th edn. New York: McGraw-Hill; 2001, 3421–3452. ID - ref1 ER - TY - JOUR AU - Dangel, J. H. PY - 1998 DA - 1998// TI - Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders--clinical and echocardiographic findings in 64 patients JO - Eur J Pediatr VL - 157 UR - https://doi.org/10.1007/s004310050872 DO - 10.1007/s004310050872 ID - Dangel1998 ER - TY - JOUR AU - Fesslová, V. AU - Corti, P. AU - Sersale, G. AU - Rovelli, A. AU - Russo, P. AU - Mannarino, S. PY - 2009 DA - 2009// TI - The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses JO - Cardiol Young VL - 19 UR - https://doi.org/10.1017/S1047951109003576 DO - 10.1017/S1047951109003576 ID - Fesslová2009 ER - TY - JOUR AU - Mohan, U. R. AU - Hay, A. A. AU - Cleary, M. A. AU - Wraith, J. E. AU - Patel, R. G. PY - 2002 DA - 2002// TI - Cardiovascular changes in children with mucopolysaccharide disorders JO - Acta Paediatr VL - 91 UR - https://doi.org/10.1111/j.1651-2227.2002.tb03330.x DO - 10.1111/j.1651-2227.2002.tb03330.x ID - Mohan2002 ER - TY - JOUR AU - Wippermann, C. F. AU - Beck, M. AU - Schranz, D. AU - Huth, R. AU - Michel-Behnke, I. AU - Jüngst, B. K. PY - 1995 DA - 1995// TI - Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses JO - Eur J Pediatr VL - 154 UR - https://doi.org/10.1007/BF01991908 DO - 10.1007/BF01991908 ID - Wippermann1995 ER - TY - JOUR AU - Braunlin, E. A. AU - Harmatz, P. R. AU - Scarpa, M. AU - Furlanetto, B. AU - Kampmann, C. AU - Loehr, J. P. PY - 2011 DA - 2011// TI - Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management JO - J Inherit Metab Dis VL - 34 UR - https://doi.org/10.1007/s10545-011-9359-8 DO - 10.1007/s10545-011-9359-8 ID - Braunlin2011 ER - TY - JOUR AU - Leal, G. N. AU - Paula, A. C. AU - Leone, C. AU - Kim, C. A. PY - 2010 DA - 2010// TI - Echocardiographic study of paediatric patients with mucopolysaccharidosis JO - Cardiol Young VL - 20 UR - https://doi.org/10.1017/S104795110999062X DO - 10.1017/S104795110999062X ID - Leal2010 ER - TY - JOUR AU - Chen, M. R. AU - Lin, S. P. AU - Hwang, H. K. AU - Yu, C. H. PY - 2005 DA - 2005// TI - Cardiovascular changes in mucopolysaccharidoses in Taiwan JO - Acta Cardiol VL - 60 UR - https://doi.org/10.2143/AC.60.1.2005049 DO - 10.2143/AC.60.1.2005049 ID - Chen2005 ER - TY - JOUR AU - Brands, M. M. AU - Frohn-Mulder, I. M. AU - Hagemans, M. L. AU - Hop, W. C. AU - Oussoren, E. AU - Helbing, W. A. PY - 2013 DA - 2013// TI - Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI JO - J Inherit Metab Dis VL - 36 UR - https://doi.org/10.1007/s10545-011-9444-z DO - 10.1007/s10545-011-9444-z ID - Brands2013 ER - TY - JOUR AU - Lin, S. M. AU - Lin, H. Y. AU - Chuang, C. K. AU - Lin, S. P. AU - Chen, M. R. PY - 2014 DA - 2014// TI - Cardiovascular abnormalities in Taiwanese patients with mucopolysaccharidosis JO - Mol Genet Metab VL - 111 UR - https://doi.org/10.1016/j.ymgme.2014.02.009 DO - 10.1016/j.ymgme.2014.02.009 ID - Lin2014 ER - TY - JOUR AU - Lin, H. Y. AU - Chuang, C. K. AU - Chen, M. R. AU - Lin, S. M. AU - Hung, C. L. AU - Chang, C. Y. PY - 2016 DA - 2016// TI - Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI JO - Mol Genet Metab VL - 117 UR - https://doi.org/10.1016/j.ymgme.2016.02.003 DO - 10.1016/j.ymgme.2016.02.003 ID - Lin2016 ER - TY - JOUR AU - Lin, H. Y. AU - Chen, M. R. AU - Lin, S. M. AU - Hung, C. L. AU - Niu, D. M. AU - Chuang, C. K. PY - 2018 DA - 2018// TI - Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis IVA JO - Orphanet J Rare Dis VL - 13 UR - https://doi.org/10.1186/s13023-018-0883-6 DO - 10.1186/s13023-018-0883-6 ID - Lin2018 ER - TY - JOUR AU - Braunlin, E. AU - Wang, R. PY - 2016 DA - 2016// TI - Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs JO - Heart VL - 102 UR - https://doi.org/10.1136/heartjnl-2015-309258 DO - 10.1136/heartjnl-2015-309258 ID - Braunlin2016 ER - TY - JOUR AU - Braunlin, E. A. AU - Berry, J. M. AU - Whitley, C. B. PY - 2006 DA - 2006// TI - Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I JO - Am J Cardiol VL - 98 UR - https://doi.org/10.1016/j.amjcard.2006.02.047 DO - 10.1016/j.amjcard.2006.02.047 ID - Braunlin2006 ER - TY - JOUR AU - Jones, S. A. AU - Almássy, Z. AU - Beck, M. AU - Burt, K. AU - Clarke, J. T. AU - Giugliani, R. PY - 2009 DA - 2009// TI - Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the hunter outcome survey (HOS) JO - J Inherit Metab Dis VL - 32 UR - https://doi.org/10.1007/s10545-009-1119-7 DO - 10.1007/s10545-009-1119-7 ID - Jones2009 ER - TY - JOUR AU - Lavery, C. AU - Hendriksz, C. PY - 2015 DA - 2015// TI - Mortality in patients with Morquio syndrome A JO - JIMD Rep VL - 15 ID - Lavery2015 ER - TY - JOUR AU - Lin, H. Y. AU - Chuang, C. K. AU - Huang, Y. H. AU - Tu, R. Y. AU - Lin, F. J. AU - Lin, S. J. PY - 2016 DA - 2016// TI - Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 JO - Orphanet J Rare Dis VL - 11 UR - https://doi.org/10.1186/s13023-016-0471-6 DO - 10.1186/s13023-016-0471-6 ID - Lin2016 ER - TY - JOUR AU - Lin, H. Y. AU - Lin, S. P. AU - Chuang, C. K. AU - Chen, M. R. AU - Chen, B. F. AU - Wraith, J. E. PY - 2005 DA - 2005// TI - Mucopolysaccharidosis I under enzyme replacement therapy with laronidase--a mortality case with autopsy report JO - J Inherit Metab Dis VL - 28 UR - https://doi.org/10.1007/s10545-005-0211-x DO - 10.1007/s10545-005-0211-x ID - Lin2005 ER - TY - JOUR AU - Fedele, A. O. PY - 2015 DA - 2015// TI - Sanfilippo syndrome: causes, consequences, and treatments JO - Appl Clin Genet VL - 8 UR - https://doi.org/10.2147/TACG.S57672 DO - 10.2147/TACG.S57672 ID - Fedele2015 ER - TY - JOUR AU - Delgadillo, V. AU - O'Callaghan Mdel, M. AU - Gort, L. AU - Coll, M. J. AU - Pineda, M. PY - 2013 DA - 2013// TI - Natural history of Sanfilippo syndrome in Spain JO - Orphanet J Rare Dis VL - 8 UR - https://doi.org/10.1186/1750-1172-8-189 DO - 10.1186/1750-1172-8-189 ID - Delgadillo2013 ER - TY - JOUR AU - Lin, H. Y. AU - Chuang, C. K. AU - Lee, C. L. AU - Tu, R. Y. AU - Lo, Y. T. AU - Chiu, P. C. PY - 2018 DA - 2018// TI - Mucopolysaccharidosis III in Taiwan: natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period JO - Am J Med Genet A VL - 176A UR - https://doi.org/10.1002/ajmg.a.40351 DO - 10.1002/ajmg.a.40351 ID - Lin2018 ER - TY - JOUR AU - Wilhelm, C. M. AU - Truxal, K. V. AU - McBride, K. L. AU - Kovalchin, J. P. AU - Flanigan, K. M. PY - 2018 DA - 2018// TI - Natural history of echocardiographic abnormalities in mucopolysaccharidosis III JO - Mol Genet Metab VL - 124 UR - https://doi.org/10.1016/j.ymgme.2018.04.010 DO - 10.1016/j.ymgme.2018.04.010 ID - Wilhelm2018 ER - TY - JOUR AU - Nijmeijer, S. C. M. AU - Bruin-Bon, R. H. A. C. M. AU - Wijburg, F. A. AU - Kuipers, I. M. PY - 2019 DA - 2019// TI - Cardiac disease in mucopolysaccharidosis type III JO - J Inherit Metab Dis VL - 42 UR - https://doi.org/10.1002/jimd.12015 DO - 10.1002/jimd.12015 ID - Nijmeijer2019 ER - TY - JOUR AU - Ribeiro, E. M. AU - Brusius-Facchin, A. C. AU - Leistner-Segal, S. AU - Silva, C. A. AU - Schwartz, I. V. PY - 2014 DA - 2014// TI - Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: a case report JO - Mol Genet Metab Rep VL - 1 UR - https://doi.org/10.1016/j.ymgmr.2014.09.003 DO - 10.1016/j.ymgmr.2014.09.003 ID - Ribeiro2014 ER - TY - JOUR AU - Muenzer, J. AU - Beekman, R. H. AU - Profera, L. M. AU - Bove, E. L. PY - 1993 DA - 1993// TI - Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome) JO - Pediatr Cardiol VL - 14 UR - https://doi.org/10.1007/BF00796996 DO - 10.1007/BF00796996 ID - Muenzer1993 ER - TY - JOUR AU - Schiattarella, G. G. AU - Cerulo, G. AU - Pasquale, V. AU - Cocchiaro, P. AU - Paciello, O. AU - Avallone, L. PY - 2015 DA - 2015// TI - The murine model of mucopolysaccharidosis IIIB develops cardiopathies over time leading to heart failure JO - PLoS One VL - 10 UR - https://doi.org/10.1371/journal.pone.0131662 DO - 10.1371/journal.pone.0131662 ID - Schiattarella2015 ER - TY - JOUR AU - Chuang, C. K. AU - Lin, S. P. AU - Lin, S. J. AU - Wang, T. J. PY - 2002 DA - 2002// TI - MPS screening methods, the Berry spot and acid turbidity tests, cause a high incidence of false-negative results in sanfilippo and morquio syndromes JO - J Clin Lab Anal VL - 16 UR - https://doi.org/10.1002/jcla.10051 DO - 10.1002/jcla.10051 ID - Chuang2002 ER - TY - JOUR AU - Chuang, C. K. AU - Lin, H. Y. AU - Wang, T. J. AU - Tsai, C. C. AU - Liu, H. L. AU - Lin, S. P. PY - 2014 DA - 2014// TI - A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses JO - Orphanet J Rare Dis VL - 9 UR - https://doi.org/10.1186/s13023-014-0135-3 DO - 10.1186/s13023-014-0135-3 ID - Chuang2014 ER - TY - JOUR AU - Lang, R. M. AU - Badano, L. P. AU - Mor-Avi, V. AU - Afilalo, J. AU - Armstrong, A. AU - Ernande, L. PY - 2015 DA - 2015// TI - Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging JO - Eur Heart J Cardiovasc Imaging VL - 16 UR - https://doi.org/10.1093/ehjci/jev014 DO - 10.1093/ehjci/jev014 ID - Lang2015 ER - TY - JOUR AU - Einarsen, E. AU - Cramariuc, D. AU - Lønnebakken, M. T. AU - Boman, K. AU - Gohlke-Bärwolf, C. AU - Chambers, J. B. PY - 2017 DA - 2017// TI - Comparison of frequency of ischemic cardiovascular events in patients with aortic stenosis with versus without asymmetric septal hypertrophy (from the SEAS trial) JO - Am J Cardiol VL - 119 UR - https://doi.org/10.1016/j.amjcard.2016.11.064 DO - 10.1016/j.amjcard.2016.11.064 ID - Einarsen2017 ER - TY - JOUR AU - Eidem, B. W. AU - McMahon, C. J. AU - Cohen, R. R. AU - Wu, J. AU - Finkelshteyn, I. AU - Kovalchin, J. P. PY - 2004 DA - 2004// TI - Impact of cardiac growth on Doppler tissue imaging velocities: a study in healthy children JO - J Am Soc Echocardiogr VL - 17 UR - https://doi.org/10.1016/j.echo.2003.12.005 DO - 10.1016/j.echo.2003.12.005 ID - Eidem2004 ER - TY - JOUR AU - Baumgartner, H. AU - Hung, J. AU - Bermejo, J. AU - Chambers, J. B. AU - Evangelista, A. AU - Griffin, B. P. PY - 2009 DA - 2009// TI - Echocardiographic assessment of valve stenosis: EAE/ASE recommendations for clinical practice JO - J Am Soc Echocardiogr VL - 22 UR - https://doi.org/10.1016/j.echo.2008.11.029 DO - 10.1016/j.echo.2008.11.029 ID - Baumgartner2009 ER - TY - JOUR AU - Lancellotti, P. AU - Tribouilloy, C. AU - Hagendorff, A. AU - Popescu, B. A. AU - Edvardsen, T. AU - Pierard, L. A. PY - 2013 DA - 2013// TI - Recommendations for the echocardiographic assessment of native valvular regurgitation: an executive summary from the European Association of Cardiovascular Imaging JO - Eur Heart J Cardiovasc Imaging VL - 14 UR - https://doi.org/10.1093/ehjci/jet105 DO - 10.1093/ehjci/jet105 ID - Lancellotti2013 ER - TY - JOUR AU - Lang, R. M. AU - Bierig, M. AU - Devereux, R. B. AU - Flachskampf, F. A. AU - Foster, E. AU - Pellikka, P. A. PY - 2005 DA - 2005// TI - Recommendations for chamber quantification: a report from the American Society of Echocardiography’s guidelines and standards committee and the chamber quantification writing group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology JO - J Am Soc Echocardiogr VL - 18 UR - https://doi.org/10.1016/j.echo.2005.10.005 DO - 10.1016/j.echo.2005.10.005 ID - Lang2005 ER - TY - JOUR AU - Kampmann, C. AU - Wiethoff, C. M. AU - Wenzel, A. AU - Stolz, G. AU - Betancor, M. AU - Wippermann, C. F. PY - 2000 DA - 2000// TI - Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe JO - Heart VL - 83 UR - https://doi.org/10.1136/heart.83.6.667 DO - 10.1136/heart.83.6.667 ID - Kampmann2000 ER - TY - JOUR AU - Foster, B. J. AU - Mackie, A. S. AU - Mitsnefes, M. AU - Ali, H. AU - Mamber, S. AU - Colan, S. D. PY - 2008 DA - 2008// TI - A novel method of expressing left ventricular mass relative to body size in children JO - Circulation VL - 117 UR - https://doi.org/10.1161/CIRCULATIONAHA.107.741157 DO - 10.1161/CIRCULATIONAHA.107.741157 ID - Foster2008 ER - TY - JOUR AU - Lin, H. Y. AU - Lee, C. L. AU - Lo, Y. T. AU - Wang, T. J. AU - Huang, S. F. AU - Chen, T. L. PY - 2018 DA - 2018// TI - The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses JO - Mol Genet Genomic Med VL - 6 UR - https://doi.org/10.1002/mgg3.471 DO - 10.1002/mgg3.471 ID - Lin2018 ER - TY - JOUR AU - Bolourchi, M. AU - Renella, P. AU - Wang, R. Y. PY - 2016 DA - 2016// TI - Aortic root dilatation in mucopolysaccharidosis I-VII JO - Int J Mol Sci VL - 17 UR - https://doi.org/10.3390/ijms17122004 DO - 10.3390/ijms17122004 ID - Bolourchi2016 ER - TY - JOUR AU - Kato, R. AU - Miyahara, H. AU - Kawano, T. AU - Matsuzuka, A. AU - Noda, K. AU - Izumi, T. PY - 2017 DA - 2017// TI - Heparan sulfate storage in the cardiac conduction system triggers atrioventricular block JO - Brain and Development VL - 39 UR - https://doi.org/10.1016/j.braindev.2016.12.008 DO - 10.1016/j.braindev.2016.12.008 ID - Kato2017 ER - TY - JOUR AU - Kampmann, C. AU - Beck, M. AU - Morin, I. AU - Loehr, J. P. PY - 2011 DA - 2011// TI - Prevalence and characterization of cardiac involvement in hunter syndrome JO - J Pediatr VL - 159 UR - https://doi.org/10.1016/j.jpeds.2011.01.054 DO - 10.1016/j.jpeds.2011.01.054 ID - Kampmann2011 ER - TY - JOUR AU - Konstam, M. A. AU - Kramer, D. G. AU - Patel, A. R. AU - Maron, M. S. AU - Udelson, J. E. PY - 2011 DA - 2011// TI - Left ventricular remodeling in heart failure: current concepts in clinical significance and assessment JO - JACC Cardiovasc Imaging VL - 4 UR - https://doi.org/10.1016/j.jcmg.2010.10.008 DO - 10.1016/j.jcmg.2010.10.008 ID - Konstam2011 ER - TY - JOUR AU - Al-Sannaa, N. A. AU - Bay, L. AU - Barbouth, D. S. AU - Benhayoun, Y. AU - Goizet, C. AU - Guelbert, N. PY - 2015 DA - 2015// TI - Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships JO - Orphanet J Rare Dis VL - 10 UR - https://doi.org/10.1186/s13023-015-0344-4 DO - 10.1186/s13023-015-0344-4 ID - Al-Sannaa2015 ER - TY - JOUR AU - Lin, S. P. AU - Lin, H. Y. AU - Wang, T. J. AU - Chang, C. Y. AU - Lin, C. H. AU - Huang, S. F. PY - 2013 DA - 2013// TI - A pilot newborn screening program for mucopolysaccharidosis type I in Taiwan JO - Orphanet J Rare Dis VL - 8 UR - https://doi.org/10.1186/1750-1172-8-147 DO - 10.1186/1750-1172-8-147 ID - Lin2013 ER - TY - JOUR AU - Chuang, C. K. AU - Lin, H. Y. AU - Wang, T. J. AU - Huang, Y. H. AU - Chan, M. J. AU - Liao, H. C. PY - 2018 DA - 2018// TI - Status of newborn screening and follow up investigations for mucopolysaccharidoses I and II in Taiwan JO - Orphanet J Rare Dis VL - 13 UR - https://doi.org/10.1186/s13023-018-0816-4 DO - 10.1186/s13023-018-0816-4 ID - Chuang2018 ER - TY - JOUR AU - Chan, M. J. AU - Liao, H. C. AU - Gelb, M. H. AU - Chuang, C. K. AU - Liu, M. Y. AU - Chen, H. J. PY - 2019 DA - 2019// TI - Taiwan National Newborn Screening Program by tandem mass spectrometry for mucopolysaccharidoses types I, II, and VI JO - J Pediatr VL - 205 UR - https://doi.org/10.1016/j.jpeds.2018.09.063 DO - 10.1016/j.jpeds.2018.09.063 ID - Chan2019 ER - TY - JOUR AU - Colón, C. AU - Alvarez, J. V. AU - Castaño, C. AU - Gutierrez-Solana, L. G. AU - Marquez, A. M. AU - O'Callaghan, M. PY - 2017 DA - 2017// TI - A selective screening program for the early detection of mucopolysaccharidosis: results of the FIND project - a 2-year follow-up study JO - Medicine (Baltimore) VL - 96 UR - https://doi.org/10.1097/MD.0000000000006887 DO - 10.1097/MD.0000000000006887 ID - Colón2017 ER -