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Items: 1 to 20 of 155

1.
Manifestaciones orales del síndrome de Maroteaux-Lamy (Mucopolisacaridosis VI)
Sandra Viviana Cáceres Matta, Luis Eduardo Carmona Arango
Rev Cient Odontol (Lima) 2021 Jan-Mar; 9(1): e051. Spanish. Published online 2021 Mar 11. doi: 10.21142/2523-2754-0901-2021-051
PMCID:
PMC10919817
AbstractArticlePDF–259K
2.
Skeletal phenotype amelioration in mucopolysaccharidosis VI requires intervention at the earliest stages of postnatal development
Elizabeth Hwang-Wong, Gabrielle Amar, Nanditha Das, Xiaoli Zhang, Nina Aaron, Kirsten Gale, Nyanza Rothman, Massimo Fante, Andrew Baik, Ajay Bhargava, Arun Fricker, Michelle McAlister, Jeremy Rabinowitz, John Lees-Shepard, Kalyan Nannuru, Aris N. Economides, Katherine D. Cygnar
JCI Insight. 2023 Nov 8; 8(21): e171312. Published online 2023 Nov 8. doi: 10.1172/jci.insight.171312
PMCID:
PMC10721280
AbstractArticlePDF–10M
3.
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
AbstractArticlePDF–1.6M
4.
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
AbstractArticlePDF–5.4M
5.
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
AbstractArticlePDF–6.1M
6.
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
AbstractArticlePDF–884K
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
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
AbstractArticlePDF–1.2M

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