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Select item 99814171.

Visual impairment in mucopolysaccharidosis VI

Augusto Monteiro Magalhães, Ana Filipa Moleiro, Esmeralda Rodrigues, Sérgio Castro, José Fonseca, Elisa Leão‐Teles

JIMD Rep. 2023 Mar; 64(2): 129–137. Published online 2023 Jan 19. doi: 10.1002/jmd2.12351

PMCID:: PMC9981417

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Select item 97637292.

Modeling cartilage pathology in mucopolysaccharidosis VI using iPSCs reveals early dysregulation of chondrogenic and metabolic gene expression

M. Broeders, Jgj van Rooij, E. Oussoren, Tjm van Gestel, Ca Smith, Sj Kimber, Rm Verdijk, Maem Wagenmakers, Jmp van den Hout, At van der Ploeg, R. Narcisi, Wwmp Pijnappel

Front Bioeng Biotechnol. 2022; 10: 949063. Published online 2022 Dec 6. doi: 10.3389/fbioe.2022.949063

PMCID:: PMC9763729

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Select item 91264663.

A novel approach in diagnosing multiple dentigerous cysts using CBCT illustration indicative of Mucopolysaccharidosis VI – a case report

Shalu Rai, Deepankar Misra, Akansha Misra, Ankit Jain, Ashish Verma, Dimple Grover, Ayesha Haris

J Med Life. 2022 Apr; 15(4): 579–586. doi: 10.25122/jml-2021-0288

PMCID:: PMC9126466

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Select item 85249014.

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series

Aslı İnci, İlyas Okur, Leyla Tümer, Gürsel Biberoğlu, Murat Öktem, Fatih Ezgü

Orphanet J Rare Dis. 2021; 16: 438. Published online 2021 Oct 19. doi: 10.1186/s13023-021-02060-4

PMCID:: PMC8524901

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Select item 84858635.

Vertebral Tongue-Like Deformity in Mucopolysaccharidosis VI

Michiel Landen, François Eyskens, Filip Vanhoenacker

J Belg Soc Radiol. 2021; 105(1): 54. Published online 2021 Sep 27. doi: 10.5334/jbsr.2611

PMCID:: PMC8485863

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Select item 80086156.

ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs

Karthik Raj, Lisa Berman-Booty, Polly Foureman, Urs Giger

Anim Genet. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Anim Genet. 2020 Dec; 51(6): 982–986. Published online 2020 Sep 28. doi: 10.1111/age.13005

PMCID:: PMC8008615

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Select item 69631657.

Successful management of severe coronoid process hyperplasia in a patient with mucopolysaccharidosis VI: a case report

Darius Khadembaschi, John Arvier, Nicholas Beech, David Dolan, Jim McGill

J Surg Case Rep. 2020 Jan; 2020(1): rjz388. Published online 2020 Jan 13. doi: 10.1093/jscr/rjz388

PMCID:: PMC6963165

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Select item 61907788.

Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI

Elif Bulut, Emine Pektas, Hatice S Sivri, Burcak Bilginer, Mumtaz M Umaroglu, Burce Ozgen

Br J Radiol. 2018 May; 91(1085): 20170744. Published online 2018 Feb 9. doi: 10.1259/bjr.20170744

PMCID:: PMC6190778

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Select item 57526559.

The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia

Nouriya Abbas Al-Sannaa, Hind Yousif Al-Abdulwahed, Sami Ibrahim Al-Majed, Issam Hassan Bouholaigah

J Community Genet. 2018 Jan; 9(1): 65–70. Published online 2017 Sep 15. doi: 10.1007/s12687-017-0329-1

PMCID:: PMC5752655

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Select item 493058610.

Mucopolysaccharidosis VI in cats – clarification regarding genetic testing

Leslie A. Lyons, Robert A. Grahn, Francesca Genova, Michela Beccaglia, John J. Hopwood, Maria Longeri

BMC Vet Res. 2016; 12: 136. Published online 2016 Jul 2. doi: 10.1186/s12917-016-0764-y

PMCID:: PMC4930586

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Select item 483467911.

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series

Hsiang-Yu Lin, Chih-Kuang Chuang, Chung-Hsing Wang, Yin-Hsiu Chien, Yu-Mei Wang, Fuu-Jen Tsai, Yen-Yin Chou, Shio Jean Lin, Hui-Ping Pan, Dau-Ming Niu, Wuh-Liang Hwu, Yu-Yuan Ke, Shuan-Pei Lin

Mol Genet Metab Rep. 2016 Jun; 7: 63–69. Published online 2016 Apr 18. doi: 10.1016/j.ymgmr.2016.04.003

PMCID:: PMC4834679

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Select item 475057612.

Human pulmonary artery endothelial cells in the model of mucopolysaccharidosis VI present a prohypertensive phenotype

Adam Golda, Agnieszka Jurecka, Karolina Gajda, Anna Tylki-Szymańska, Anna Lalik

Mol Genet Metab Rep. 2015 Jun; 3: 11–17. Published online 2015 Feb 28. doi: 10.1016/j.ymgmr.2015.02.003

PMCID:: PMC4750576

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Select item 463483213.

Diagnostic and treatment strategies in mucopolysaccharidosis VI

Filippo Vairo, Andressa Federhen, Guilherme Baldo, Mariluce Riegel, Maira Burin, Sandra Leistner-Segal, Roberto Giugliani

Appl Clin Genet. 2015; 8: 245–255. Published online 2015 Oct 30. doi: 10.2147/TACG.S68650

PMCID:: PMC4634832

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Select item 436723514.

Prevalence of Anti–Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates for a Gene Therapy Trial

Rita Ferla, Pamela Claudiani, Marco Savarese, Karen Kozarsky, Rossella Parini, Maurizio Scarpa, Maria Alice Donati, Giovanni Sorge, John J. Hopwood, Giancarlo Parenti, Simona Fecarotta, Vincenzo Nigro, Hatice Serap Sivri, Ans Van Der Ploeg, Generoso Andria, Nicola Brunetti-Pierri, Alberto Auricchio

Hum Gene Ther. 2015 Mar 1; 26(3): 145–152. Published online 2015 Feb 4. doi: 10.1089/hum.2014.109

PMCID:: PMC4367235

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Select item 436192215.

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

Adrian Quartel, Christian J. Hendriksz, Rossella Parini, Sue Graham, Ping Lin, Paul Harmatz

JIMD Rep. 2015; 18: 1–11. Published online 2014 Dec 18. doi: 10.1007/8904_2014_333

PMCID:: PMC4361922

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Select item 410707816.

Natural History and Galsulfase Treatment in Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome) — 10 Year Follow-up of Patients Who Previously Participated in an MPS VI Survey Study

Roberto Giugliani, Christina Lampe, Nathalie Guffon, David Ketteridge, Elisa Leão Teles, James E. Wraith, Simon A Jones, Cheri Piscia-Nichols, Ping Lin, Adrian Quartel, Paul Harmatz

Am J Med Genet A. Author manuscript; available in PMC 2015 Aug 1.

Published in final edited form as: Am J Med Genet A. 2014 Aug; 164(8): 1953–1964. Published online 2014 Apr 24. doi: 10.1002/ajmg.a.36584

PMCID:: PMC4107078

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Select item 397650917.

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI

Paul R. Harmatz, Paula Garcia, Nathalie Guffon, Linda M. Randolph, Renée Shediac, Elizabeth Braunlin, Ralph S. Lachman, Celeste Decker

J Inherit Metab Dis. 2014; 37(2): 277–287. Published online 2013 Oct 10. doi: 10.1007/s10545-013-9654-7

PMCID:: PMC3976509

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Select item 376664418.

Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome

Sandra Jester, Julia Larsson, Erik A Eklund, Domniki Papadopoulou, Jan-Eric Månsson, Albert N Békássy, Dominik Turkiewicz, Jacek Toporski, Ingrid Øra

Orphanet J Rare Dis. 2013; 8: 134. Published online 2013 Sep 5. doi: 10.1186/1750-1172-8-134

PMCID:: PMC3766644

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Select item 359040919.

Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI

Rosa Bartolomeo, Elena V. Polishchuk, Nicola Volpi, Roman S. Polishchuk, Alberto Auricchio

J Inherit Metab Dis. 2013; 36(2): 363–371. Published online 2012 Sep 13. doi: 10.1007/s10545-012-9521-y

PMCID:: PMC3590409

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Select item 359040220.

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme^®) therapy

E. Braunlin, H. Rosenfeld, C. Kampmann, J. Johnson, M. Beck, R. Giugliani, N. Guffon, D. Ketteridge, C. M. Sá Miranda, M. Scarpa, I. V. Schwartz, E. Leão Teles, J. E. Wraith, P. Barrios, E. Dias da Silva, G. Kurio, M. Richardson, G. Gildengorin, J. J. Hopwood, M. Imperiale, A. Schatz, C. Decker, P. Harmatz, MPS VI Study Group

J Inherit Metab Dis. 2013; 36(2): 385–394. Published online 2012 Jun 5. doi: 10.1007/s10545-012-9481-2

PMCID:: PMC3590402

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