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Select item 111496171.

Incidence of Bloodstream Infections after Hematopoietic Stem Cell Transplantation for Hurler Syndrome

Chloe Dunseath, Gabby O’Connor, Sheetal Mahulkar, Priscila Badia, Jane Koo, Christopher E. Dandoy

Transplant Cell Ther. Author manuscript; available in PMC 2024 Jun 4.

Published in final edited form as: Transplant Cell Ther. 2023 Nov; 29(11): 707.e1–707.e4. Published online 2023 Aug 13. doi: 10.1016/j.jtct.2023.08.010

PMCID:: PMC11149617

Abstract Article PDF–145K

Select item 109725922.

Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells

Samantha Donsante, Alice Pievani, Biagio Palmisano, Melissa Finamore, Grazia Fazio, Alessandro Corsi, Andrea Biondi, Shunji Tomatsu, Rocco Piazza, Marta Serafini, Mara Riminucci

JCI Insight. 2024 Mar 8; 9(5): e173449. Published online 2024 Mar 8. doi: 10.1172/jci.insight.173449

PMCID:: PMC10972592

Abstract Article PDF–7.3M

Select item 105913553.

Utilizing AAV-mediated LEAPER 2.0 for programmable RNA editing in non-human primates and nonsense mutation correction in humanized Hurler syndrome mice

Zongyi Yi, Yanxia Zhao, Zexuan Yi, Yongjian Zhang, Gangbin Tang, Xiaoxue Zhang, Huixian Tang, Wei Zhang, Ying Zhao, Huayuan Xu, Yuyang Nie, Xueqing Sun, Lijun Xing, Lian Dai, Pengfei Yuan, Wensheng Wei

Genome Biol. 2023; 24: 243. Published online 2023 Oct 23. doi: 10.1186/s13059-023-03086-6

PMCID:: PMC10591355

Abstract Article PDF–3.6M

Select item 101950384.

Hurler Syndrome (Mucopolysaccharidosis Type 1): A Case Report

Noman Khalid, Muhammad Abdullah, Abeer bin Awais, Muhammad Hassan, Ameer Muhammad

Cureus. 2023 Apr; 15(4): e37785. Published online 2023 Apr 18. doi: 10.7759/cureus.37785

PMCID:: PMC10195038

Abstract Article PDF–1.5M

Select item 100034375.

Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome)

Amna Siddiqui, Halil Dundar, Jyoti Sharma, Aneta Kaczmarczyk, Josh Echols, Yanying Dai, Chuanxi Richard Sun, Ming Du, Zhong Liu, Rui Zhao, Tim Wood, Shalisa Sanders, Lynn Rasmussen, James Robert Bostwick, Corinne Augelli-Szafran, Mark Suto, Steven M. Rowe, David M. Bedwell, Kim M. Keeling

Int J Mol Sci. 2023 Mar; 24(5): 4521. Published online 2023 Feb 24. doi: 10.3390/ijms24054521

PMCID:: PMC10003437

Abstract Article PDF–2.3M

Select item 99472156.

In vivo adenine base editing corrects newborn murine model of Hurler syndrome

Jing Su, Xiu Jin, Kaiqin She, Yi Liu, Li Song, Qinyu Zhao, Jianlu Xiao, Ruiting Li, Hongxin Deng, Fang Lu, Yang Yang

Mol Biomed. 2023 Dec; 4: 6. Published online 2023 Feb 23. doi: 10.1186/s43556-023-00120-8

PMCID:: PMC9947215

Abstract Article PDF–5.3M

Select item 98945027.

Hurler Syndrome: Orofacial Clinical Findings

Cristina Rodrigues Barros, José Ferrão, Maria do Céu Machado, Ana Fernandes, Francisco Proença

Cureus. 2023 Jan; 15(1): e33313. Published online 2023 Jan 3. doi: 10.7759/cureus.33313

PMCID:: PMC9894502

Abstract Article PDF–1.1M

Select item 93319728.

Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review

Nishitha R. Pillai, Alia Ahmed, Todd Vanyo, Chester B. Whitley

Genes (Basel) 2022 Aug; 13(8): 1293. Published online 2022 Jul 22. doi: 10.3390/genes13081293

PMCID:: PMC9331972

Abstract Article PDF–234K

Select item 92617499.

Quantifying medical manifestations in Hurler syndrome with the Infant Physical Symptom Score: associations with long-term physical and adaptive outcomes

Alia Ahmed, Kyle Rudser, Kelly E. King, Julie B. Eisengart, Paul J. Orchard, Elsa Shapiro, Chester B. Whitley

Mol Genet Metab. Author manuscript; available in PMC 2022 Jul 7.

Published in final edited form as: Mol Genet Metab. 2022 May; 136(1): 22–27. Published online 2022 Mar 10. doi: 10.1016/j.ymgme.2022.03.003

PMCID:: PMC9261749

Abstract Article PDF–425K

Select item 873228010.

B-cell depletion abrogates immune mediated cytopenia and rejection of cord blood transplantation in Hurler syndrome

R. Nataraj, P. Hiwarkar, D. Bonney, H. Campbell, S. Jones, D. Deambrosis, P. Evans, K. Poulton, P. M. van Hasselt, MB. Bierings, J. J. Boelens, C. A. Lindemans, R. Wynn

Bone Marrow Transplant. 2022; 57(1): 38–42. Published online 2021 Oct 4. doi: 10.1038/s41409-021-01465-w

PMCID:: PMC8732280

Abstract Article PDF–917K

Select item 816726211.

Trigger finger in children with hurler syndrome – distribution pattern and treatment options

Andreas Jokuszies, Lorenz Grigull, Tobias Mett, Khaled Dastagir, Alperen Bingoel, Peter M. Vogt

GMS Interdiscip Plast Reconstr Surg DGPW. 2021; 10: Doc04. Published online 2021 May 5. doi: 10.3205/iprs000154

PMCID:: PMC8167262

Abstract Article PDF–2.8M

Select item 815535612.

Surrogate Cerebrospinal Fluid Biomarkers for Assessing the Efficacy of Gene Therapy in Hurler Syndrome

Reiner F. Haseloff, Stephanie Trudel, Ramona Birke, Michael Schümann, Eberhard Krause, Cathy Gomila, Jean-Michel Heard, Ingolf E. Blasig, Jérôme Ausseil

Front Neurol. 2021; 12: 640547. Published online 2021 May 13. doi: 10.3389/fneur.2021.640547

PMCID:: PMC8155356

Abstract Article PDF–391K

Select item 760371213.

Multimodal imaging of Hurler syndrome-related keratopathy treated with deep anterior lamellar keratoplasty

Elodie Da Cunha, Cristina Georgeon, Nacim Bouheraoua, Marc Putterman, Françoise Brignole-Baudouin, Vincent M. Borderie

BMC Ophthalmol. 2020; 20: 433. Published online 2020 Oct 31. doi: 10.1186/s12886-020-01689-2

PMCID:: PMC7603712

Abstract Article PDF–3.1M

Select item 727561914.

Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome)

Rajkumar Sundarapandian, Simon Jones, Alexander Broomfield, Pauline Hensman, Neil Oxborrow

Orphanet J Rare Dis. 2020; 15: 140. Published online 2020 Jun 5. doi: 10.1186/s13023-020-01427-3

PMCID:: PMC7275619

Abstract Article PDF–740K

Select item 696009015.

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation

Lynda E. Polgreen, Troy C. Lund, Elizabeth Braunlin, Jakub Tolar, Bradley S. Miller, Ellen Fung, Chester B. Whitley, Julie B. Eisengart, Elise Northrop, Kyle Rudser, Weston P. Miller, Paul J. Orchard

Pediatr Res. 2020; 87(1): 104–111. Published online 2019 Aug 21. doi: 10.1038/s41390-019-0541-2

PMCID:: PMC6960090

Abstract Article PDF–1.1M

Select item 683151016.

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

Julie B. Eisengart, Elizabeth I. Pierpont, Alexander M. Kaizer, Kyle D. Rudser, Kelly E. King, Marzia Pasquali, Lynda E. Polgreen, Patricia I. Dickson, Steven Q. Le, Weston P. Miller, Jakub Tolar, Paul J. Orchard, Troy C. Lund

Genet Med. 2019; 21(11): 2552–2560. Published online 2019 Apr 25. doi: 10.1038/s41436-019-0522-1

PMCID:: PMC6831510

Abstract Article PDF–768K

Select item 677384817.

Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes

Troy C. Lund, Weston P. Miller, Ai Yin Liao, Jakub Tolar, Ryan Shanley, Marzia Pasquali, Nicole Sando, Brian W. Bigger, Lynda E. Polgreen, Paul J. Orchard

Sci Rep. 2019; 9: 14105. Published online 2019 Oct 1. doi: 10.1038/s41598-019-50595-1

PMCID:: PMC6773848

Abstract Article PDF–1.2M

Select item 639167518.

Immune cytopenia post–cord transplant in Hurler syndrome is a forme fruste of graft rejection

David Deambrosis, Su Han Lum, Ryan M. Hum, Kay Poulton, Wendy Ogden, Simon Jones, Simon Stanworth, Denise Bonney, Prashant Hiwarkar, Robert F. Wynn

Blood Adv. 2019 Feb 26; 3(4): 570–574. Published online 2019 Feb 20. doi: 10.1182/bloodadvances.2018026963

PMCID:: PMC6391675

Abstract Article PDF–695K

Select item 620532719.

Getting the Most: Enhancing Efficacy by Promoting Erythropoiesis and Thrombopoiesis after Gene Therapy in Mice with Hurler Syndrome

Jing-fen Han, Salim S. El-Amouri, Mei Dai, Phuong Cao, Dao Pan

Mol Ther Methods Clin Dev. 2018 Dec 14; 11: 52–64. Published online 2018 Oct 10. doi: 10.1016/j.omtm.2018.10.001

PMCID:: PMC6205327

Abstract Article PDF–3.4M

Select item 612922920.

Long-term outcomes of systemic therapies for Hurler syndrome: an international multi-center comparison

Julie B. Eisengart, Kyle D. Rudser, Yong Xue, Paul Orchard, Weston Miller, Troy Lund, Ans Van der Ploeg, Jean Mercer, Simon Jones, Karl Eugen Mengel, Seyfullah Gökce, Nathalie Guffon, Roberto Giugliani, Carolina F. M. Souza, Elsa G. Shapiro, Chester B. Whitley

Genet Med. Author manuscript; available in PMC 2018 Sep 9.

Published in final edited form as: Genet Med. 2018 Nov; 20(11): 1423–1429. Published online 2018 Mar 8. doi: 10.1038/gim.2018.29