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Select item 103205881.

Growth patterns in patients with mucopolysaccharidosis VII

Adriana M. Montaño, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Antonio Nino Ramirez, Lin Zhang, Deborah Marsden, Raymond Y. Wang, Paul Harmatz

Mol Genet Metab Rep. 2023 Sep; 36: 100987. Published online 2023 Jun 26. doi: 10.1016/j.ymgmr.2023.100987

PMCID:: PMC10320588

Abstract Article PDF–6.4M

Select item 97919352.

Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome)

Fabiano de Oliveira Poswar, Johanna Henriques Nehm, Francyne Kubaski, Edina Poletto, Roberto Giugliani

Ther Clin Risk Manag. 2022; 18: 1143–1155. Published online 2022 Dec 22. doi: 10.2147/TCRM.S351300

PMCID:: PMC9791935

Abstract Article PDF–1.3M

Select item 97473563.

Dose-dependent effects of enzyme replacement therapy on skeletal disease progression in mucopolysaccharidosis VII dogs

Rahul Gawri, Yian Khai Lau, Gloria Lin, Snehal S. Shetye, Chenghao Zhang, Zhirui Jiang, Khaled Abdoun, Carla R. Scanzello, Stephanie Y. Jo, Wilfried Mai, George R. Dodge, Margret L. Casal, Lachlan J. Smith

Mol Ther Methods Clin Dev. 2023 Mar 9; 28: 12–26. Published online 2022 Nov 23. doi: 10.1016/j.omtm.2022.11.006

PMCID:: PMC9747356

Abstract Article PDF–5.6M

Select item 82897414.

Progression of Vertebral Bone Disease in Mucopolysaccharidosis VII Dogs from Birth to Skeletal Maturity

Sun H. Peck, Yian Khai Lau, Jennifer L. Kang, Megan Lin, Toren Arginteanu, Dena R. Matalon, Justin R. Bendigo, Patricia O’Donnell, Mark E. Haskins, Margret L. Casal, Lachlan J. Smith

Mol Genet Metab. Author manuscript; available in PMC 2022 Aug 1.

Published in final edited form as: Mol Genet Metab. 2021 Aug; 133(4): 378–385. Published online 2021 Jun 15. doi: 10.1016/j.ymgme.2021.06.005

PMCID:: PMC8289741

Abstract Article PDF–1.7M

Select item 82727335.

Epiphyseal Cartilage Canal Architecture and Extracellular Matrix Remodeling in Mucopolysaccharidosis VII Dogs at the Onset of Postnatal Growth

Zhirui Jiang, Casey P. Johnson, Olli Nykänen, Mikko Nissi, Yian Khai Lau, Meilun Wu, Margret L. Casal, Lachlan J. Smith

Connect Tissue Res. Author manuscript; available in PMC 2022 Nov 1.

Published in final edited form as: Connect Tissue Res. 2021 Nov; 62(6): 698–708. Published online 2021 Jan 11. doi: 10.1080/03008207.2020.1865939

PMCID:: PMC8272733

Abstract Article PDF–1.7M

Select item 81781156.

Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII

Simon Jones, Mahmut Coker, Antonio González-Meneses López, Jennifer Sniadecki, Jill Mayhew, Pauline Hensman, Agnieszka Jurecka

Mol Genet Metab Rep. 2021 Sep; 28: 100774. Published online 2021 May 29. doi: 10.1016/j.ymgmr.2021.100774

PMCID:: PMC8178115

Abstract Article PDF–857K

Select item 81411347.

Mucopolysaccharidosis VII in Brazil: natural history and clinical findings

Roberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, José Francisco da Silva Franco, Liane de Rosso Giuliani, Carlos Henrique Paiva Grangeiro, Dafne Dain Gandelman Horovitz, Chong Ae Kim, Emilia Katiane Embiruçu de Araújo Leão, Paula Frassinetti Vasconcelos de Medeiros, Diego Santana Chaves Geraldo Miguel, Maria Espírito Santo Almeida Moreira, Helena Maria Guimarães Pimentel dos Santos, Luiz Carlos Santana da Silva, Luiz Roberto da Silva, Isabel Neves de Souza, Tatiele Nalin, Daniel Garcia

Orphanet J Rare Dis. 2021; 16: 238. Published online 2021 May 22. doi: 10.1186/s13023-021-01870-w

PMCID:: PMC8141134

Abstract Article PDF–1.1M

Select item 78693348.

Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene

Antonio Miguel Poyatos‐Andújar, Susana García‐Linares, Pilar Carretero, Olga Ocon, Dolores Fresneda, Laura Gort, Francisa Sonia Molina García

Clin Case Rep. 2021 Feb; 9(2): 790–795. Published online 2020 Dec 11. doi: 10.1002/ccr3.3644

PMCID:: PMC7869334

Abstract Article PDF–522K

Select item 68139069.

Molecular Profiling of Failed Endochondral Ossification in Mucopolysaccharidosis VII

Sun H. Peck, John W. Tobias, Eileen M. Shore, Neil R. Malhotra, Mark E. Haskins, Margret L. Casal, Lachlan J. Smith

Bone. Author manuscript; available in PMC 2020 Nov 1.

Published in final edited form as: Bone. 2019 Nov; 128: 115042. Published online 2019 Aug 20. doi: 10.1016/j.bone.2019.115042

PMCID:: PMC6813906

Abstract Article PDF–2.5M

Select item 671810710.

Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population

Christine Haller, Wenjie Song, Tricia Cimms, Chao‐Yin Chen, Chester B. Whitley, Raymond Y. Wang, Mislen Bauer, Paul Harmatz

JIMD Rep. 2019 Sep; 49(1): 53–62. Published online 2019 Jun 26. doi: 10.1002/jmd2.12043

PMCID:: PMC6718107

Abstract Article PDF–1.2M

Select item 653340911.

Correction to: Vestronidase Alfa: A Review in Mucopolysaccharidosis VII

Emma H. McCafferty, Lesley J. Scott

BioDrugs. 2019; 33(3): 343. Published online 2019 Apr 16. doi: 10.1007/s40259-019-00353-6

Corrects:: BioDrugs. 2019; 33(2): 233–240.

PMCID:: PMC6533409

Correction PDF–333K

Select item 646959212.

Vestronidase Alfa: A Review in Mucopolysaccharidosis VII

Emma H. McCafferty, Lesley J. Scott

BioDrugs. 2019; 33(2): 233–240. Published online 2019 Mar 8. doi: 10.1007/s40259-019-00344-7

Correction in:: BioDrugs. 2019; 33(3): 343.

PMCID:: PMC6469592

Abstract Article PDF–1002K

Select item 595389513.

Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis

Valerie Lew, Louis Pena, Robert Edwards, Raymond Y. Wang

JIMD Rep. 2018; 39: 31–37. Published online 2017 Jul 13. doi: 10.1007/8904_2017_43

PMCID:: PMC5953895

Abstract Article PDF–642K

Select item 543693614.

Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII: Prenatal diagnosis of an MPS VII fetus

Francyne Kubaski, Ana Carolina Brusius-Facchin, Robert W. Mason, Pravin Patel, Maira G. Burin, Kristiane Michelin-Tirelli, Rejane Gus Kessler, Fernanda Bender, Sandra Leistner-Segal, Carolina A. Moreno, Denise P. Cavalcanti, Roberto Giugliani, Shunji Tomatsu

Prenat Diagn. Author manuscript; available in PMC 2018 May 1.

Published in final edited form as: Prenat Diagn. 2017 May; 37(5): 435–439. Published online 2017 Mar 12. doi: 10.1002/pd.5028

PMCID:: PMC5436936

Abstract Article PDF–313K

Select item 464104915.

Delayed hypertrophic differentiation of epiphyseal chondrocytes contributes to failed secondary ossification in mucopolysaccharidosis VII dogs

Sun H. Peck, Philip J.M. O'Donnell, Jennifer L. Kang, Neil R. Malhotra, George R. Dodge, Maurizio Pacifici, Eileen M. Shore, Mark E. Haskins, Lachlan J. Smith

Mol Genet Metab. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: Mol Genet Metab. 2015 Nov; 116(3): 195–203. Published online 2015 Sep 26. doi: 10.1016/j.ymgme.2015.09.008

PMCID:: PMC4641049

Abstract Article PDF–1.8M

Select item 462445616.

Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene

P. Wang, J. Sorenson, S. Strickland, C. Mingus, M.E. Haskins, U. Giger

J Vet Intern Med. 2015 Jul-Aug; 29(4): 1022–1028. Published online 2015 Jun 25. doi: 10.1111/jvim.13569

PMCID:: PMC4624456

Abstract Article PDF–490K

Select item 381235217.

Transplantation of human umbilical mesenchymal stem cells cures the corneal defects of Mucopolysaccharidosis VII mice

Vivien Jane Coulson- Thomas, Bruce Caterson, Winston W-Y Kao

Stem Cells. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Stem Cells. 2013 Oct; 31(10): 10.1002/stem.1481. doi: 10.1002/stem.1481

PMCID:: PMC3812352

Abstract Article PDF–4.3M

Select item 380021118.

Pathogenesis of Mitral Valve Disease in Mucopolysaccharidosis VII Dogs

Paul W. Bigg, Guilherme Baldo, Meg M. Sleeper, Patricia A. O'Donnell, Hanqing Bai, Venkata R.P. Rokkam, Yuli Liu, Susan Wu, Roberto Giugliani, Margret L. Casal, Mark E. Haskins, Katherine P. Ponder

Mol Genet Metab. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Mol Genet Metab. 2013 Nov; 110(3): 319–328. Published online 2013 Jun 25. doi: 10.1016/j.ymgme.2013.06.013

PMCID:: PMC3800211

Abstract Article PDF–651K

Select item 369097419.

The Effect of Neonatal Gene Therapy on Skeletal Manifestations in Mucopolysaccharidosis VII Dogs after a Decade

Elizabeth M. Xing, Van W. Knox, Patricia A. O'Donnell, Tracey Sikura, Yuli Liu, Susan Wu, Margret L. Casal, Mark E. Haskins, Katherine P. Ponder

Mol Genet Metab. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Mol Genet Metab. 2013 Jun; 109(2): 183–193. Published online 2013 Apr 6. doi: 10.1016/j.ymgme.2013.03.013

PMCID:: PMC3690974

Abstract Article PDF–5.3M

Select item 347945120.

Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII

Ha T. Huynh, Jeffrey H. Grubb, Carole Vogler, William S. Sly

Proc Natl Acad Sci U S A. 2012 Oct 16; 109(42): 17022–17027. Published online 2012 Oct 1. doi: 10.1073/pnas.1214779109

PMCID:: PMC3479451

Abstract Article PDF–846K

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