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Items: 1 to 20 of 160

1.
Mucopolysaccharidosis VI
Vassili Valayannopoulos, Helen Nicely, Paul Harmatz, Sean Turbeville
Orphanet J Rare Dis. 2010; 5: 5. Published online 2010 Apr 12. doi: 10.1186/1750-1172-5-5
PMCID:
PMC2873242
AbstractArticlePDF–3.3M
2.
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
AbstractArticlePDF–1.9M
3.
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
AbstractArticlePDF–264K
4.
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
AbstractArticlePDF–930K
5.
Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity.
D T Vine, M M McGovern, M E Haskins, R J Desnick
Am J Hum Genet. 1981 Nov; 33(6): 916–927.
PMCID:
PMC1685156
SummaryPage BrowsePDF–1.1M
6.
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
AbstractArticlePDF–338K
7.
The pathology of the feline model of mucopolysaccharidosis VI.
M. E. Haskins, G. D. Aguirre, P. F. Jezyk, D. F. Patterson
Am J Pathol. 1980 Dec; 101(3): 657–674.
PMCID:
PMC1903664
SummaryPage BrowsePDF–4.2M
8.
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
D. Isbrandt, G. Arlt, D. A. Brooks, J. J. Hopwood, K. von Figura, C. Peters
Am J Hum Genet. 1994 Mar; 54(3): 454–463.
PMCID:
PMC1918135
SummaryPage BrowsePDF–1.5M
9.
Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI
Alessandra Tessitore, Marinella Pirozzi, Alberto Auricchio
Pathogenetics. 2009; 2: 4. Published online 2009 Jun 16. doi: 10.1186/1755-8417-2-4
PMCID:
PMC2708151
AbstractArticlePDF–1.1M
10.
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
AbstractArticlePDF–1.1M
11.
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
AbstractArticlePDF–533K
12.
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
AbstractArticlePDF–861K
13.
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
AbstractArticlePDF–1.4M
14.
A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): focus on galsulfase
Regina P El Dib, Gregory M Pastores
Biologics. 2009; 3: 459–468. Published online 2009 Oct 12. doi: 10.2147/btt.2009.3580
PMCID:
PMC2763316
AbstractArticlePDF–353K
15.
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase
Paul Harmatz, Zi-Fan Yu, Roberto Giugliani, Ida Vanessa D. Schwartz, Nathalie Guffon, Elisa Leão Teles, M. Clara Sá Miranda, J. Edmond Wraith, Michael Beck, Laila Arash, Maurizio Scarpa, David Ketteridge, John J. Hopwood, Barbara Plecko, Robert Steiner, Chester B Whitley, Paige Kaplan, Stuart J. Swiedler, Karen Hardy, Kenneth I. Berger, Celeste Decker
J Inherit Metab Dis. 2010; 33(1): 51–60. Published online 2010 Feb 6. doi: 10.1007/s10545-009-9007-8
PMCID:
PMC2828556
AbstractArticlePDF–239K
16.
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
AbstractArticlePDF–1.0M
17.
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
AbstractArticlePDF–274K
18.
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
AbstractArticlePDF–380K
19.
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
AbstractArticlePDF–856K
20.
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
AbstractArticlePDF–1.7M

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