Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these findings in subjects during long-term enzyme replacement therapy (ERT) with recombinant hum...
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| Published in | Journal of inherited metabolic disease Vol. 36; no. 2; pp. 385 - 394 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Dordrecht
Springer Netherlands
01.03.2013
Blackwell Publishing Ltd |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0141-8955 1573-2665 1573-2665 |
| DOI | 10.1007/s10545-012-9481-2 |
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| Abstract | Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these findings in subjects during long-term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB, rhN-acetylgalactosamine 4-sulfatase, galsulfase, Naglazyme®). Studies were conducted in 54 subjects before ERT was begun and at specific intervals for up to 96 weeks of weekly infusions of rhASB at 1 mg/kg during phase 1/2, phase 2, and phase 3 trials of rhASB. At baseline, mitral and aortic valve obstruction was present and was significantly greater in those ≥12 years of age. Mild mitral and trace aortic regurgitation were present, the former being significantly greater in those <12 years. Left ventricular hypertrophy, with averaged z-scores ranging from 1.6–1.9 SD greater than normal, was present for ages both <12 and ≥12 years. After 96 weeks of ERT, ventricular septal hypertrophy regressed in those <12 years. For those ≥12 years, septal hypertrophy was unchanged, and aortic regurgitation increased statistically but not physiologically. Obstructive gradients across mitral and aortic valves remained unchanged. The results suggest that long-term ERT is effective in reducing intraventricular septal hypertrophy and preventing progression of cardiac valve abnormalities when administered to those <12 years of age. |
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| AbstractList | Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these findings in subjects during long-term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB, rhN-acetylgalactosamine 4-sulfatase, galsulfase, Naglazyme®). Studies were conducted in 54 subjects before ERT was begun and at specific intervals for up to 96 weeks of weekly infusions of rhASB at 1 mg/kg during phase 1/2, phase 2, and phase 3 trials of rhASB. At baseline, mitral and aortic valve obstruction was present and was significantly greater in those ≥12 years of age. Mild mitral and trace aortic regurgitation were present, the former being significantly greater in those <12 years. Left ventricular hypertrophy, with averaged z-scores ranging from 1.6–1.9 SD greater than normal, was present for ages both <12 and ≥12 years. After 96 weeks of ERT, ventricular septal hypertrophy regressed in those <12 years. For those ≥12 years, septal hypertrophy was unchanged, and aortic regurgitation increased statistically but not physiologically. Obstructive gradients across mitral and aortic valves remained unchanged. The results suggest that long-term ERT is effective in reducing intraventricular septal hypertrophy and preventing progression of cardiac valve abnormalities when administered to those <12 years of age. Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these findings in subjects during long‐term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB, rhN‐acetylgalactosamine 4‐sulfatase, galsulfase, Naglazyme®). Studies were conducted in 54 subjects before ERT was begun and at specific intervals for up to 96 weeks of weekly infusions of rhASB at 1 mg/kg during phase 1/2, phase 2, and phase 3 trials of rhASB. At baseline, mitral and aortic valve obstruction was present and was significantly greater in those ≥12 years of age. Mild mitral and trace aortic regurgitation were present, the former being significantly greater in those <12 years. Left ventricular hypertrophy, with averaged z‐scores ranging from 1.6–1.9 SD greater than normal, was present for ages both <12 and ≥12 years. After 96 weeks of ERT, ventricular septal hypertrophy regressed in those <12 years. For those ≥12 years, septal hypertrophy was unchanged, and aortic regurgitation increased statistically but not physiologically. Obstructive gradients across mitral and aortic valves remained unchanged. The results suggest that long‐term ERT is effective in reducing intraventricular septal hypertrophy and preventing progression of cardiac valve abnormalities when administered to those <12 years of age. Issue Title: Mucopolysaccharidosis Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these findings in subjects during long-term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB, rhN-acetylgalactosamine 4-sulfatase, galsulfase, NaglazymeÂ). Studies were conducted in 54 subjects before ERT was begun and at specific intervals for up to 96Â weeks of weekly infusions of rhASB at 1Â mg/kg during phase 1/2, phase 2, and phase 3 trials of rhASB. At baseline, mitral and aortic valve obstruction was present and was significantly greater in those â[per thousand]¥12Â years of age. Mild mitral and trace aortic regurgitation were present, the former being significantly greater in those <12Â years. Left ventricular hypertrophy, with averaged z-scores ranging from 1.6â[euro]"1.9 SD greater than normal, was present for ages both <12 and â[per thousand]¥12Â years. After 96Â weeks of ERT, ventricular septal hypertrophy regressed in those <12Â years. For those â[per thousand]¥12Â years, septal hypertrophy was unchanged, and aortic regurgitation increased statistically but not physiologically. Obstructive gradients across mitral and aortic valves remained unchanged. The results suggest that long-term ERT is effective in reducing intraventricular septal hypertrophy and preventing progression of cardiac valve abnormalities when administered to those <12Â years of age.[PUBLICATION ABSTRACT] Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these findings in subjects during long-term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB, rhN-acetylgalactosamine 4-sulfatase, galsulfase, Naglazyme®). Studies were conducted in 54 subjects before ERT was begun and at specific intervals for up to 96 weeks of weekly infusions of rhASB at 1 mg/kg during phase 1/2, phase 2, and phase 3 trials of rhASB. At baseline, mitral and aortic valve obstruction was present and was significantly greater in those ≥12 years of age. Mild mitral and trace aortic regurgitation were present, the former being significantly greater in those <12 years. Left ventricular hypertrophy, with averaged z-scores ranging from 1.6-1.9 SD greater than normal, was present for ages both <12 and ≥12 years. After 96 weeks of ERT, ventricular septal hypertrophy regressed in those <12 years. For those ≥12 years, septal hypertrophy was unchanged, and aortic regurgitation increased statistically but not physiologically. Obstructive gradients across mitral and aortic valves remained unchanged. The results suggest that long-term ERT is effective in reducing intraventricular septal hypertrophy and preventing progression of cardiac valve abnormalities when administered to those <12 years of age.Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these findings in subjects during long-term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB, rhN-acetylgalactosamine 4-sulfatase, galsulfase, Naglazyme®). Studies were conducted in 54 subjects before ERT was begun and at specific intervals for up to 96 weeks of weekly infusions of rhASB at 1 mg/kg during phase 1/2, phase 2, and phase 3 trials of rhASB. At baseline, mitral and aortic valve obstruction was present and was significantly greater in those ≥12 years of age. Mild mitral and trace aortic regurgitation were present, the former being significantly greater in those <12 years. Left ventricular hypertrophy, with averaged z-scores ranging from 1.6-1.9 SD greater than normal, was present for ages both <12 and ≥12 years. After 96 weeks of ERT, ventricular septal hypertrophy regressed in those <12 years. For those ≥12 years, septal hypertrophy was unchanged, and aortic regurgitation increased statistically but not physiologically. Obstructive gradients across mitral and aortic valves remained unchanged. The results suggest that long-term ERT is effective in reducing intraventricular septal hypertrophy and preventing progression of cardiac valve abnormalities when administered to those <12 years of age. |
| Author | Gildengorin, G. Wraith, J. E. Dias da Silva, E. Johnson, J. Guffon, N. Schwartz, I. V. Barrios, P. Beck, M. Schatz, A. Sá Miranda, C. M. Ketteridge, D. Scarpa, M. Richardson, M. Kurio, G. Decker, C. Kampmann, C. Hopwood, J. J. Braunlin, E. Giugliani, R. Imperiale, M. Rosenfeld, H. Harmatz, P. Leão Teles, E. |
| Author_xml | – sequence: 1 givenname: E. surname: Braunlin fullname: Braunlin, E. organization: Pediatric Cardiology, University of Minnesota – sequence: 2 givenname: H. surname: Rosenfeld fullname: Rosenfeld, H. organization: Cardiology, Children’s Hospital & Research Center Oakland – sequence: 3 givenname: C. surname: Kampmann fullname: Kampmann, C. organization: Department of Congenital Heart Diseases / Pediatric Cardiology / GUCH, University Medicine, Center for Diseases in Childhood and Adolescence – sequence: 4 givenname: J. surname: Johnson fullname: Johnson, J. organization: Gastroenterology, Children’s Hospital & Research Center Oakland – sequence: 5 givenname: M. surname: Beck fullname: Beck, M. organization: Centre for Lysosomal Storage Diseases, University Children’s Hospital – sequence: 6 givenname: R. surname: Giugliani fullname: Giugliani, R. organization: Department of Genetics, UFRGS, Medical Genetics Service, HCPA, INAGEMP – Instituto Nacional de Genética Médica Populacional – sequence: 7 givenname: N. surname: Guffon fullname: Guffon, N. organization: Hôpital Femme Mère Enfant – sequence: 8 givenname: D. surname: Ketteridge fullname: Ketteridge, D. organization: Metabolic Unit, SA Pathology at Women’s and Children’s Hospital – sequence: 9 givenname: C. M. surname: Sá Miranda fullname: Sá Miranda, C. M. organization: Instituto de Biologia Molecular e Celular, Unidade de Biologia do Lisossoma e Peroxisoma – sequence: 10 givenname: M. surname: Scarpa fullname: Scarpa, M. organization: Department of Pediatrics, University of Padova – sequence: 11 givenname: I. V. surname: Schwartz fullname: Schwartz, I. V. organization: Department of Genetics, UFRGS, Medical Genetics Service, HCPA – sequence: 12 givenname: E. surname: Leão Teles fullname: Leão Teles, E. organization: Unidade de Doenças Metabólicas, Departmento de Pediatria, Hospital S. João – sequence: 13 givenname: J. E. surname: Wraith fullname: Wraith, J. E. organization: Genetic Medicine, St. Mary’s Hospital – sequence: 14 givenname: P. surname: Barrios fullname: Barrios, P. organization: Department of Genetics, UFRGS, Medical Genetics Service, HCPA – sequence: 15 givenname: E. surname: Dias da Silva fullname: Dias da Silva, E. organization: Cardiologia Pediatrica, Departamento de Pediatria, Hospital de S. João – sequence: 16 givenname: G. surname: Kurio fullname: Kurio, G. organization: Cardiology, Children’s Hospital & Research Center Oakland – sequence: 17 givenname: M. surname: Richardson fullname: Richardson, M. organization: Cardiology Department, Women’s and Children’s Hospital – sequence: 18 givenname: G. surname: Gildengorin fullname: Gildengorin, G. organization: Pediatric Clinical Research Center, Children’s Hospital & Research Center Oakland – sequence: 19 givenname: J. J. surname: Hopwood fullname: Hopwood, J. J. organization: Lysosomal Diseases Research Unit, SA Pathology at Women’s and Children’s Hospital Adelaide – sequence: 20 givenname: M. surname: Imperiale fullname: Imperiale, M. organization: BioMarin Pharmaceutical, Inc – sequence: 21 givenname: A. surname: Schatz fullname: Schatz, A. organization: BioMarin Pharmaceutical, Inc – sequence: 22 givenname: C. surname: Decker fullname: Decker, C. organization: BioMarin Pharmaceutical, Inc – sequence: 23 givenname: P. surname: Harmatz fullname: Harmatz, P. email: pharmatz@mail.cho.org organization: Gastroenterology, Children’s Hospital & Research Center Oakland |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/22669363$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1016/j.echo.2010.03.019 10.1017/S104795110999062X 10.1136/heart.83.6.667 10.1023/A:1005447232027 10.1161/01.HYP.34.2.236 10.1007/BF01991908 10.1007/s00431-008-0910-z 10.1016/j.echo.2008.11.029 10.1111/j.1399-0004.2009.01324.x 10.1007/BF02559995 10.1016/j.jpeds.2005.12.014 10.1542/peds.2004-1023 10.1016/j.echo.2008.02.006 10.1002/ajmg.a.30579 10.1136/pgmj.68.798.287 10.1007/s004310050872 10.1016/j.ymgme.2008.04.001 10.1007/s10545-009-9007-8 10.1017/S1047951109003576 10.1161/01.CIR.104.3.310 10.1111/j.1399-0004.2004.00277.x 10.1161/01.CIR.85.1.188 10.1016/j.jpeds.2004.03.018 10.3346/jkms.2001.16.2.140 10.1093/oso/9780198524847.001.0001 |
| ContentType | Journal Article |
| Contributor | Souza, Isabel Cristina Neves de Bernard, Philippe Pastores, Gregory Lee, Claudia Bennett-Jones, D N Keppen, Laura Kaplan, Paige Valadares, Eugênia Ribeiro Coopman, Eduardo Oates, Stephanie Arash, Laila Sorge, Giovanni Waber, Lewis Lin, Shuan-Pei Pozzi, Silvio Pavone, Lorenzo Lubitz, Lionel Boy, Raquel Barone, Rita Preiss, Uwe de Villemeur, Billette Waterson, John Santos, Emerson Santana Pais, Ray Gizzi, Elio Silva, Luiz Carlos Santana da Whitley, Chester B Arroyo, Javier Martins, Ana Maria Frischman, William Victor, Bonito O'Meara, Anne Kretz, Michel Amraoui, Yasmina Steiner, Robert Fiumara, Agata Plecko, Barbara Korinthenberg, Rudolf Sillence, David Simon, Julie |
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| Copyright | The Author(s) 2012 2013 The Author(s) SSIEM and Springer Science+Business Media Dordrecht 2013 |
| Copyright_xml | – notice: The Author(s) 2012 – notice: 2013 The Author(s) – notice: SSIEM and Springer Science+Business Media Dordrecht 2013 |
| CorporateAuthor | MPS VI Study Group |
| CorporateAuthor_xml | – name: MPS VI Study Group |
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| DOI | 10.1007/s10545-012-9481-2 |
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| Discipline | Medicine |
| EISSN | 1573-2665 |
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| Issue | 2 |
| Keywords | Mitral Valve Enzyme Replacement Therapy Galsulfase Aortic Valve Aortic Regurgitation |
| Language | English |
| License | Attribution http://creativecommons.org/licenses/by/4.0 This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited. |
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| Notes | Communicated by: Gregory M. Pastores The MPS VI Study Group co‐investigators (see Acknowledgment section) ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 14 ObjectType-Article-1 ObjectType-Feature-2 content type line 23 |
| OpenAccessLink | https://onlinelibrary.wiley.com/doi/abs/10.1007%2Fs10545-012-9481-2 |
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| PublicationDate | March 2013 |
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| PublicationSubtitle | Official Journal of the Society for the Study of Inborn Errors of Metabolism |
| PublicationTitle | Journal of inherited metabolic disease |
| PublicationTitleAbbrev | J Inherit Metab Dis |
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| PublicationYear | 2013 |
| Publisher | Springer Netherlands Blackwell Publishing Ltd |
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| References | Dow, Harper (CR7) 1932; 66 Fesslova, Corti, Sersale, Rovelli, Russo, Mannarino, Butera, Parini (CR9) 2009; 19 Harmatz, Yu, Giugliani, Schwartz, Guffon, Teles, Sa Miranda, Wraith, Beck, Arash, Scarpa, Ketteridge, Hopwood, Plecko, Steiner, Whitley, Kaplan, Swiedler, Hardy, Berger, Decker (CR15) 2010; 33 Dangel (CR4) 1998; 157 Kampmann, Wiethoff, Wenzel, Stolz, Betancour, Wippermann, Huth, Habermehl, Knuf, Emschermann, Stopfkuchen (CR18) 2000; 83 Neufeld, Muenzer, Scriver, Beaudet, Valle, Sly (CR24) 2001 Lael, de Paula, Leone, Kim (CR19) 2010; 20 Hachida, Nonoyama, Bonkohara, Hanyama, Koyanagi (CR10) 1996; 11 CR16 Azevedo, Schwartz, Kalakun, Brustolin, Burin, Beheregaray, Leistner, Giugliani, Rosa, Barrios, Marinho, Esteves, Valadares, Boy, Horovitz, Mabe, de Silva, de Souza, Ribeiro, Martins, Palhares, Kim, Giugliani (CR1) 2004; 66 Harmatz, Whitley, Waber, Pais, Steiner, Plecko, Kaplan, Simon, Butensky, Hopwood (CR11) 2004; 144 Harmatz, Giugliani, Schwartz, Guffon, Teles, Sa Miranda, Wraith, Beck, Aash, Scarpa, Ketteridge, Hopwood, Plecko, Steiner, Whitley, Kaplan, Yu, Swiedler, Decker (CR14) 2008; 94 Decker, Yu, Giugliani, Schwartz, Guffon, Teles, Miranda, Wraith, Beck, Arash, Scarpa, Ketteridge, Hopwood, Plecko, Steiner, Whitley, Kaplan, Swiedler, Conrad, Harmatz (CR5) 2010; 3 Dai, Ayres, Harrist, Bricker, Labarthe (CR3) 1999; 34 Herskhovitz, Young, Rainer, Hall, Lidchi, Chong, Vellodi (CR17) 1999; 22 Lopez, Colan, Frommelt, Ensing, Kendall, Younoszai, Lai, Geva (CR21) 2010; 23 Sohn, Kim (CR27) 2001; 16 Scarpa, Barone, Fiumara, Astarita, Parenti, Rampazzo, Sala, Sorge, Parini (CR26) 2009; 168 Diggle, Heagerty, Liang, Zeger (CR6) 2002 Harmatz, Giugliani, Schwartz, Guffon, Teles, Sa Miranda, Wraith, Beck, Arash, Scarpa, Yu, Wittes, Berger, Newman, Iowe, Kakkis, Swiedler (CR13) 2006; 148 Pettersen, Du, Skeens, Humes (CR25) 2008; 21 Baumgartner, Hung, Bermejo, Chambers, Evangelista, Griffin, Iung, Otto, Pellikka, Quinones (CR2) 2009; 22 Harmatz, Ketteridge, Giugliani, Guffon, Teles, Sa Miranda, Yu, Swiedler, Hopwood (CR12) 2005; 115 McGill, Inwood, Coman, Lipke, de Lore, Swiedler, Hopwood (CR23) 2010; 77 CR8 Swiedler, Beck, Balbouj, Giugliani, Schwartz, Harmatz, Wraith, Roberts, Ketteridge, Hopwood, Guffon, Sa Miranda, Teles, Berger, Pisca-Nichols (CR28) 2005; 134A Wippermann, Beck, Schranz, Huth, Michel-Behnke, Jungst (CR30) 1995; 154 Lipschultz, Easley, Orav, Kaplan, Starc, Bricker, Lai, Moodie, Sopko, Schluchter, Colan (CR20) 2001; 104 Marwick, Bastian, Hughes, Bailey (CR22) 1992; 68 Tan, Schaff, Fletcher, Edwards, Karnes (CR29) 1992; 85 2004; 66 2009; 22 2004; 144 2010; 33 2010; 77 2012 2005; 115 1999; 22 2002 2008; 94 1995; 154 1998; 157 2001; 104 1996; 11 2010; 23 2005; 134A 2010; 20 2001 2000; 83 1999; 34 1985 1932; 66 2009; 168 1992; 68 2008; 21 2001; 16 2010; 3 2009; 19 2006; 148 1992; 85 Decker C (e_1_2_11_6_1) 2010; 3 Diggle PJ (e_1_2_11_7_1) 2002 e_1_2_11_10_1 e_1_2_11_31_1 e_1_2_11_30_1 e_1_2_11_14_1 e_1_2_11_13_1 e_1_2_11_12_1 e_1_2_11_11_1 e_1_2_11_29_1 e_1_2_11_28_1 e_1_2_11_5_1 e_1_2_11_27_1 e_1_2_11_4_1 e_1_2_11_26_1 e_1_2_11_3_1 Dow DR (e_1_2_11_8_1) 1932; 66 e_1_2_11_2_1 Neufeld EF (e_1_2_11_25_1) 2001 e_1_2_11_21_1 e_1_2_11_20_1 e_1_2_11_24_1 e_1_2_11_9_1 Hatle L (e_1_2_11_17_1) 1985 e_1_2_11_23_1 e_1_2_11_22_1 e_1_2_11_18_1 e_1_2_11_16_1 e_1_2_11_15_1 e_1_2_11_19_1 |
| References_xml | – volume: 23 start-page: 465 year: 2010 end-page: 495 ident: CR21 article-title: Recommendations for quantification methods during the performance of a pediatric echocardiogram: a report from the Pediatric Measurements Writing Group of the American Society of Echocardiography Pediatric and Congenital Heart Disease Council publication-title: J Am Soc Echocardiog doi: 10.1016/j.echo.2010.03.019 – volume: 20 start-page: 254 year: 2010 end-page: 261 ident: CR19 article-title: Echocardiographic study of paediatric patients with mucopolysaccharidosis publication-title: Cardiol Young doi: 10.1017/S104795110999062X – volume: 83 start-page: 667 year: 2000 end-page: 672 ident: CR18 article-title: Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe publication-title: Heart doi: 10.1136/heart.83.6.667 – ident: CR16 – volume: 22 start-page: 50 year: 1999 end-page: 62 ident: CR17 article-title: Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up publication-title: J Inher Metab Dis doi: 10.1023/A:1005447232027 – volume: 34 start-page: 236 year: 1999 end-page: 241 ident: CR3 article-title: Validity of echocardiographic measurement in an epidemiological study: Project HeartBeat! publication-title: Hypertension doi: 10.1161/01.HYP.34.2.236 – volume: 154 start-page: 98 year: 1995 end-page: 101 ident: CR30 article-title: Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses publication-title: Eur J Pediatr doi: 10.1007/BF01991908 – ident: CR8 – start-page: 3421 year: 2001 end-page: 3452 ident: CR24 article-title: The mucopolysaccharidoses publication-title: The metabolic basis of inherited diseases – volume: 168 start-page: 1203 year: 2009 end-page: 1206 ident: CR26 article-title: Mucopolysaccharidosis VI: the Italian experience publication-title: Eur J Pediatr doi: 10.1007/s00431-008-0910-z – volume: 22 start-page: 1 year: 2009 end-page: 23 ident: CR2 article-title: Echocardiographic assessment of valve stenosis: EAE/ASE recommendations for clinical practice publication-title: J Am Soc Echocardiogr doi: 10.1016/j.echo.2008.11.029 – year: 2002 ident: CR6 publication-title: Analysis of longitudinal data – volume: 77 start-page: 492 year: 2010 end-page: 498 ident: CR23 article-title: Enzyme replacement therapy for mucopolysaccharidosis Vi from 8 weeks of age—a sibling control study publication-title: Clin Genet doi: 10.1111/j.1399-0004.2009.01324.x – volume: 11 start-page: 215 year: 1996 end-page: 217 ident: CR10 article-title: Combined aortic and mitral valve replacement in an adult with mucopolysaccharidosis (Maroteaux-Lamy syndrome) publication-title: Heart Vessel doi: 10.1007/BF02559995 – volume: 148 start-page: 533 year: 2006 end-page: 539 ident: CR13 article-title: Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study publication-title: J Pediatr doi: 10.1016/j.jpeds.2005.12.014 – volume: 115 start-page: e681 year: 2005 end-page: e689 ident: CR12 article-title: Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase publication-title: Pediatrics doi: 10.1542/peds.2004-1023 – volume: 21 start-page: 922 year: 2008 end-page: 934 ident: CR25 article-title: Regression equations for calculation of z scores of cardiac structures in a large cohort of healthy infants, children, and adolescents: an echocardiographic study publication-title: J Am Soc Echocardiogr doi: 10.1016/j.echo.2008.02.006 – volume: 134A start-page: 144 year: 2005 end-page: 150 ident: CR28 article-title: Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome) publication-title: Am J Med Gen doi: 10.1002/ajmg.a.30579 – volume: 16 start-page: 140 year: 2001 end-page: 144 ident: CR27 article-title: Doppler aortic flow velocity measurement in healthy children publication-title: J Korean Med Sci – volume: 68 start-page: 287 year: 1992 end-page: 288 ident: CR22 article-title: Mitral stenosis in the Maroteaux-Lamy syndrome: a treatable cause of dyspnoea publication-title: Postgrad Med J doi: 10.1136/pgmj.68.798.287 – volume: 157 start-page: 534 year: 1998 end-page: 538 ident: CR4 article-title: Cardiovascular changes in children with mucopolysaccharide storage disease and related disorders—clinical and echocardiographic findings in 64 patients publication-title: Eur J Pediatr doi: 10.1007/s004310050872 – volume: 66 start-page: 610 issue: Pt 4 year: 1932 end-page: 617 ident: CR7 article-title: The vascularity of the valves of the human heart publication-title: J Anat – volume: 94 start-page: 469 year: 2008 end-page: 475 ident: CR14 article-title: Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase publication-title: Mol Gen Metab doi: 10.1016/j.ymgme.2008.04.001 – volume: 33 start-page: 51 year: 2010 end-page: 60 ident: CR15 article-title: Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase publication-title: J Inherit Metab Dis doi: 10.1007/s10545-009-9007-8 – volume: 3 start-page: 89 issue: 2 year: 2010 end-page: 100 ident: CR5 article-title: Enzyme replacement therapy for mucopolysaccharidosis VI: growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase publication-title: J Pediatr Rehabil Med – volume: 19 start-page: 170 year: 2009 end-page: 178 ident: CR9 article-title: The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses publication-title: Cardiol Young doi: 10.1017/S1047951109003576 – volume: 104 start-page: 310 year: 2001 end-page: 316 ident: CR20 article-title: Reliability of multicenter pediatric echocardiographic measurements of left ventricular structure and function: the prospective P2C2 HIV study publication-title: Circulation doi: 10.1161/01.CIR.104.3.310 – volume: 66 start-page: 208 year: 2004 end-page: 213 ident: CR1 article-title: Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI publication-title: Clin Genet doi: 10.1111/j.1399-0004.2004.00277.x – volume: 85 start-page: 188 year: 1992 end-page: 195 ident: CR29 article-title: Valvular heart disease in four patients with Maroteaux-Lamy syndrome publication-title: Circulation doi: 10.1161/01.CIR.85.1.188 – volume: 144 start-page: 574 year: 2004 end-page: 580 ident: CR11 article-title: Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) publication-title: J Pediatr doi: 10.1016/j.jpeds.2004.03.018 – volume: 66 start-page: 610 issue: Pt 4 year: 1932 end-page: 617 article-title: The vascularity of the valves of the human heart publication-title: J Anat – volume: 33 start-page: 51 year: 2010 end-page: 60 article-title: Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long‐term pulmonary function in patients treated with recombinant human N‐acetylgalactosamine 4‐sulfatase publication-title: J Inherit Metab Dis – volume: 16 start-page: 140 year: 2001 end-page: 144 article-title: Doppler aortic flow velocity measurement in healthy children publication-title: J Korean Med Sci – volume: 11 start-page: 215 year: 1996 end-page: 217 article-title: Combined aortic and mitral valve replacement in an adult with mucopolysaccharidosis (Maroteaux‐Lamy syndrome) publication-title: Heart Vessel – volume: 154 start-page: 98 year: 1995 end-page: 101 article-title: Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses publication-title: Eur J Pediatr – volume: 22 start-page: 50 year: 1999 end-page: 62 article-title: Bone marrow transplantation for Maroteaux‐Lamy syndrome (MPS VI): long‐term follow‐up publication-title: J Inher Metab Dis – volume: 85 start-page: 188 year: 1992 end-page: 195 article-title: Valvular heart disease in four patients with Maroteaux‐Lamy syndrome publication-title: Circulation – volume: 104 start-page: 310 year: 2001 end-page: 316 article-title: Reliability of multicenter pediatric echocardiographic measurements of left ventricular structure and function: the prospective P2C2 HIV study publication-title: Circulation – volume: 3 start-page: 89 issue: 2 year: 2010 end-page: 100 article-title: Enzyme replacement therapy for mucopolysaccharidosis VI: growth and pubertal development in patients treated with recombinant human N‐acetylgalactosamine 4‐sulfatase publication-title: J Pediatr Rehabil Med – volume: 19 start-page: 170 year: 2009 end-page: 178 article-title: The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses publication-title: Cardiol Young – volume: 148 start-page: 533 year: 2006 end-page: 539 article-title: Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double‐blind, placebo‐controlled, multinational study of recombinant human N‐acetylgalactosamine 4‐sulfatase (recombinant human arylsulfatase B or rhASB) and follow‐on, open‐label extension study publication-title: J Pediatr – start-page: 3421 year: 2001 end-page: 3452 – volume: 94 start-page: 469 year: 2008 end-page: 475 article-title: Long‐term follow‐up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N‐acetylgalactosamine 4‐sulfatase publication-title: Mol Gen Metab – volume: 68 start-page: 287 year: 1992 end-page: 288 article-title: Mitral stenosis in the Maroteaux‐Lamy syndrome: a treatable cause of dyspnoea publication-title: Postgrad Med J – volume: 77 start-page: 492 year: 2010 end-page: 498 article-title: Enzyme replacement therapy for mucopolysaccharidosis Vi from 8 weeks of age—a sibling control study publication-title: Clin Genet – year: 2012 – start-page: 93 year: 1985 – volume: 157 start-page: 534 year: 1998 end-page: 538 article-title: Cardiovascular changes in children with mucopolysaccharide storage disease and related disorders—clinical and echocardiographic findings in 64 patients publication-title: Eur J Pediatr – volume: 144 start-page: 574 year: 2004 end-page: 580 article-title: Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux‐Lamy syndrome) publication-title: J Pediatr – volume: 115 start-page: e681 year: 2005 end-page: e689 article-title: Direct comparison of measures of endurance, mobility, and joint function during enzyme‐replacement therapy of mucopolysaccharidosis VI (Maroteaux‐Lamy syndrome): results after 48 weeks in a phase 2 open‐label clinical study of recombinant human N‐acetylgalactosamine 4‐sulfatase publication-title: Pediatrics – volume: 21 start-page: 922 year: 2008 end-page: 934 article-title: Regression equations for calculation of z scores of cardiac structures in a large cohort of healthy infants, children, and adolescents: an echocardiographic study publication-title: J Am Soc Echocardiogr – volume: 34 start-page: 236 year: 1999 end-page: 241 article-title: Validity of echocardiographic measurement in an epidemiological study: Project HeartBeat! publication-title: Hypertension – year: 2002 – volume: 66 start-page: 208 year: 2004 end-page: 213 article-title: Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI publication-title: Clin Genet – volume: 23 start-page: 465 year: 2010 end-page: 495 article-title: Recommendations for quantification methods during the performance of a pediatric echocardiogram: a report from the Pediatric Measurements Writing Group of the American Society of Echocardiography Pediatric and Congenital Heart Disease Council publication-title: J Am Soc Echocardiog – volume: 22 start-page: 1 year: 2009 end-page: 23 article-title: Echocardiographic assessment of valve stenosis: EAE/ASE recommendations for clinical practice publication-title: J Am Soc Echocardiogr – volume: 134A start-page: 144 year: 2005 end-page: 150 article-title: Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux‐Lamy Syndrome) publication-title: Am J Med Gen – volume: 83 start-page: 667 year: 2000 end-page: 672 article-title: Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe publication-title: Heart – volume: 20 start-page: 254 year: 2010 end-page: 261 article-title: Echocardiographic study of paediatric patients with mucopolysaccharidosis publication-title: Cardiol Young – volume: 168 start-page: 1203 year: 2009 end-page: 1206 article-title: Mucopolysaccharidosis VI: the Italian experience publication-title: Eur J Pediatr – ident: e_1_2_11_15_1 doi: 10.1016/j.ymgme.2008.04.001 – ident: e_1_2_11_28_1 doi: 10.3346/jkms.2001.16.2.140 – ident: e_1_2_11_16_1 doi: 10.1007/s10545-009-9007-8 – ident: e_1_2_11_27_1 doi: 10.1007/s00431-008-0910-z – ident: e_1_2_11_24_1 doi: 10.1111/j.1399-0004.2009.01324.x – ident: e_1_2_11_4_1 doi: 10.1161/01.HYP.34.2.236 – volume: 66 start-page: 610 issue: 4 year: 1932 ident: e_1_2_11_8_1 article-title: The vascularity of the valves of the human heart publication-title: J Anat – start-page: 3421 volume-title: The metabolic basis of inherited diseases year: 2001 ident: e_1_2_11_25_1 – ident: e_1_2_11_11_1 doi: 10.1007/BF02559995 – volume-title: Analysis of longitudinal data year: 2002 ident: e_1_2_11_7_1 doi: 10.1093/oso/9780198524847.001.0001 – ident: e_1_2_11_21_1 doi: 10.1161/01.CIR.104.3.310 – ident: e_1_2_11_26_1 doi: 10.1016/j.echo.2008.02.006 – ident: e_1_2_11_20_1 doi: 10.1017/S104795110999062X – ident: e_1_2_11_10_1 doi: 10.1017/S1047951109003576 – ident: e_1_2_11_30_1 doi: 10.1161/01.CIR.85.1.188 – ident: e_1_2_11_2_1 doi: 10.1111/j.1399-0004.2004.00277.x – ident: e_1_2_11_14_1 doi: 10.1016/j.jpeds.2005.12.014 – ident: e_1_2_11_5_1 doi: 10.1007/s004310050872 – ident: e_1_2_11_9_1 – ident: e_1_2_11_19_1 doi: 10.1136/heart.83.6.667 – ident: e_1_2_11_31_1 doi: 10.1007/BF01991908 – ident: e_1_2_11_22_1 doi: 10.1016/j.echo.2010.03.019 – ident: e_1_2_11_3_1 doi: 10.1016/j.echo.2008.11.029 – ident: e_1_2_11_13_1 doi: 10.1542/peds.2004-1023 – ident: e_1_2_11_12_1 doi: 10.1016/j.jpeds.2004.03.018 – ident: e_1_2_11_23_1 doi: 10.1136/pgmj.68.798.287 – ident: e_1_2_11_18_1 doi: 10.1023/A:1005447232027 – ident: e_1_2_11_29_1 doi: 10.1002/ajmg.a.30579 – volume: 3 start-page: 89 issue: 2 year: 2010 ident: e_1_2_11_6_1 article-title: Enzyme replacement therapy for mucopolysaccharidosis VI: growth and pubertal development in patients treated with recombinant human N‐acetylgalactosamine 4‐sulfatase publication-title: J Pediatr Rehabil Med – start-page: 93 volume-title: Physical principles and clinical applications year: 1985 ident: e_1_2_11_17_1 |
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| Snippet | Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI).... Issue Title: Mucopolysaccharidosis Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with... |
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| SubjectTerms | Adolescent Adult Biochemistry Child Clinical Trials as Topic Enzyme Replacement Therapy - adverse effects Enzyme Replacement Therapy - methods Female Heart Valves - drug effects Human Genetics Humans Hypertrophy, Left Ventricular - chemically induced Internal Medicine Male Medicine Medicine & Public Health Metabolic Diseases Mucopolysaccharidosis VI - drug therapy N-Acetylgalactosamine-4-Sulfatase - adverse effects N-Acetylgalactosamine-4-Sulfatase - therapeutic use Original Original Article Pediatrics Randomized Controlled Trials as Topic Recombinant Proteins - adverse effects Recombinant Proteins - therapeutic use Treatment Outcome Young Adult |
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| Title | Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy |
| URI | https://link.springer.com/article/10.1007/s10545-012-9481-2 https://onlinelibrary.wiley.com/doi/abs/10.1007%2Fs10545-012-9481-2 https://www.ncbi.nlm.nih.gov/pubmed/22669363 https://www.proquest.com/docview/1315216597 https://www.proquest.com/docview/1315632045 https://pubmed.ncbi.nlm.nih.gov/PMC3590402 |
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