Gitzelmann R, Steinmann B, Wiesmann U, Spycher M, Herschkowitz N, Marti H-R. Aldersche Granulationsanomalie: Albert Alders Patienten litten nicht an M. Pfaundler-Hurler. (Abstract) Helv Paediat Acta. 1987;42:90.
Google Scholar
Wicker G, Prill V, Brooks D, Gibson G, Hopwood J, von Figura K, Peters C. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): an intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B. J Biol Chem. 1991;266:21386–91.
CAS
PubMed
Google Scholar
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010;5:5.
Article
Google Scholar
Maroteaux P, Leveque B, Marie J, Lamy M. Une nouvelle dysostose avec elimination urinaire de chondroitine sulfate B [a new dysostosis with urinary elimination of chondroitin sulfate B]. Presse Med. 1963;71:1849–52.
CAS
PubMed
Google Scholar
Encarnacion CO, Hang D, Earing M, Mitchell ME. Mucopolysaccharidoses causing Valvular heart disease: report and review of surgical management. World J Pediatr Congenit Heart Surg. 2017;1:2150135117690105. https://doi.org/10.1177/2150135117690105 [Epub ahead of print].
Article
Google Scholar
Azevedo AC, Schwartz IV, Kalakun L, Brustolin S, Burin MG, Beheregaray AP, Leistner S, Giugliani C, Rosa M, Barrios P, Marinho D, Esteves P, Valadares E, Boy R, Horovitz D, Mabe P, da Silva LC, de Souza IC, Ribeiro M, Martins AM, Palhares D, Kim CA, Giugliani R. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin Genet. 2004;66:208–13.
Article
CAS
Google Scholar
Strauss L. The pathology of gargoylism. Report of a case and review of the literature. Am J Pathol. 1948;24:855–87.
CAS
PubMed
PubMed Central
Google Scholar
Fesslová V, Corti P, Sersale G, Rovelli A, Russo P, Mannarino S, Butera G, Parini R. The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses. Cardiol Young. 2009;19:170–8.
Article
Google Scholar
Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34:1183–97.
Article
CAS
Google Scholar
Hayflick S, Rowe S, Kavanaugh-McHugh A, Olson JL, Valle D. Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI. J Pediatr. 1992;120:269–72.
Article
CAS
Google Scholar
Miller G, Partridge A. Mucopolysaccharidosis type VI presenting in infancy with endocardial fibroelastosis and heart failure. Pediatr Cardiol. 1983;4:61–2.
Article
CAS
Google Scholar
Glober GA, Tanaka KR, Turner JA, Liu CK. Mucopolysaccharidosis, an unusual cause of cardiac valvular disease. Am J Cardiol. 1968;22:133–6.
Article
CAS
Google Scholar
Chen MR, Lin SP, Hwang HK, Yu CH. Cardiovascular changes in mucopolysaccharidoses in Taiwan. Acta Cardiol. 2005;60:51–3.
Article
Google Scholar
Torre S, Scarpelli M, Salviati A, Buffone E, Faggian G, Luciani GB. Aortic and mitral valve involvement in Maroteaux-Lamy syndrome VI: surgical implications in the enzyme replacement therapy era. Ann Thorac Surg. 2016;102:e23–5.
Article
Google Scholar
Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007;120:405–18.
Article
Google Scholar
Wilson CS, Mankin HT, Pluth JR. Aortic stenosis and mucopolysaccharidosis. Ann Intern Med. 1980;92:496–8.
Article
CAS
Google Scholar
Tan CT, Schaff HV, Miller FA Jr, Edwards WD, Karnes PS. Valvular heart disease in four patients with Maroteaux-Lamy syndrome. Circulation. 1992;85:188–95.
Article
CAS
Google Scholar
Marwick TH, Bastian B, Hughes CF, Bailey BP. Mitral stenosis in the Maroteaux-Lamy syndrome: a treatable cause of dyspnoea. Postgrad Med J. 1992;68:287–8.
Article
CAS
Google Scholar
Muenzer J, Beekman RH, Profera LM, Bove EL. Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome). Pediatr Cardiol. 1993;14:130–2.
Article
CAS
Google Scholar
Fong LV, Menahem S, Wraith JE, Chow CW. Endocardial fibroelastosis in mucopolysaccharidosis type VI. Clin Cardiol. 1987;10:362–4.
Article
CAS
Google Scholar
Leal GN, de Paula AC, Morhy SS, Andrade JL, Kim CA. Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. Cardiol Young. 2014;24:229–35.
Article
Google Scholar
Scarpa M, Barone R, Fiumara A, Astarita L, Parenti G, Rampazzo A, Sala S, Sorge G, Parini R. Mucopolysaccharidosis VI: the Italian experience. Eur J Pediatr. 2009;168:1203–6.
Article
Google Scholar
Kampmann C, Lampe C, Whybra-Trümpler C, Wiethoff CM, Mengel E, Arash L, Beck M, Miebach E. Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy. J Inherit Metab Dis. 2014;37:269–76.
Article
CAS
Google Scholar
Tomanin R, Karageorgos L, Zanetti A, Al-Sayed M, Bailey M, Miller N, Sakuraba H, Hopwood JJ. Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: review and classification of published variants in the ARSB gene. Hum Mutat. 2018;39:1788–802.
Article
CAS
Google Scholar
Zanetti A, D'Avanzo F, Rigon L, Rampazzo A, Concolino D, Barone R, Volpi N, Santoro L, Lualdi S, Bertola F, Scarpa M, Tomanin R. Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. Eur J Pediatr. 2019;178:739–53.
Article
CAS
Google Scholar
Garrido E, Chabás A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B. Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Mol Genet Metab. 2007;92:122–30.
Article
CAS
Google Scholar
Jurecka A, Golda A, Opoka-Winiarska V, Piotrowska E, Tylki-Szymańska A. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. Mol Genet Metab. 2011;104:695–9.
Article
CAS
Google Scholar
Jurecka A, Zakharova E, Cimbalistiene L, Gusina N, Kulpanovich A, Golda A, Opoka-Winiarska V, Piotrowska E, Voskoboeva E, Tylki-Szymańska A. Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. Am J Med Genet A. 2013;161A:1291–9.
Article
Google Scholar
Tomatsu S, Kubaski F, Sawamoto K, Mason RW, Yasuda E, Shimada T, Montaño AM, Yamaguchi S, Suzuki Y, Orii T. Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry. Nihon Masu Sukuriningu Gakkai Shi. 2014;24:19–37.
PubMed
PubMed Central
Google Scholar
Moreno CA, Kanazawa T, Barini R, Nomura ML, Andrade KC, Gomes CP, Heinrich JK, Giugliani R, Burin M, Cavalcanti DP. Non-immune hydrops fetalis: a prospective study of 53 cases. Am J Med Genet A. 2013;161A:3078–86.
Article
Google Scholar
Gimovsky AC, Luzi P, Berghella V. Lysosomal storage disease as an etiology of nonimmune hydrops. Am J Obstet Gynecol. 2015;212:281–90.
Article
Google Scholar
Vianey-Saban C, Acquaviva C, Cheillan D, Collardeau-Frachon S, Guibaud L, Pagan C, Pettazzoni M, Piraud M, Lamazière A, Froissart R. Antenatal manifestations of inborn errors of metabolism: biological diagnosis. J Inherit Metab Dis. 2016;39:611–24.
Article
CAS
Google Scholar
Choy YS, Bhattacharya K, Balasubramaniam S, Fietz M, Fu A, Inwood A, Jin DK, Kim OH, Kosuga M, Kwun YH, Lin HY, Lin SP, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Thong MK, Toh TH, Yang AD, McGill J. Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI). Mol Genet Metab. 2015;115:41–7.
Article
CAS
Google Scholar
McGill JJ, Inwood AC, Coman DJ, Lipke ML, de Lore D, Swiedler SJ, Hopwood JJ. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study. Clin Genet. 2010;77(5):492–8.
Article
CAS
Google Scholar
Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger K, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M, MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019;14(1):118.
Article
Google Scholar
Whybra C, Mengel E, Russo A, Bahlmann F, Kampmann C, Beck M, Eich E, Mildenberger E. Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature. Orphanet J Rare Dis. 2012;7:86.
Article
Google Scholar