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Select item 61756341.

Detection of Mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in Dried Blood Spots (DBS) by Tandem Mass Spectrometry

Fan Yi, Xinying Hong, Arun Babu Kumar, Chengli Zong, Geert-Jan Boons, C. Ronald Scott, Frantisek Turecek, Bruce H. Robinson, Michael H. Gelb

Mol Genet Metab. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Mol Genet Metab. 2018 Sep; 125(1-2): 59–63. Published online 2018 May 23. doi: 10.1016/j.ymgme.2018.05.005

PMCID:: PMC6175634

Abstract Article PDF–594K

Select item 93640352.

Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation

Miguel Tillo, William C. Lamanna, Chrissa A. Dwyer, Daniel R. Sandoval, Ariane R. Pessentheiner, Norah Al-Azzam, Stéphane Sarrazin, Jon C. Gonzales, Shih-Hsin Kan, Alexander Y. Andreyev, Nicholas Schultheis, Bryan E. Thacker, Charles A. Glass, Patricia I. Dickson, Raymond Y. Wang, Scott B. Selleck, Jeffrey D. Esko, Philip L.S.M. Gordts

J Biol Chem. 2022 Aug; 298(8): 102159. Published online 2022 Jun 22. doi: 10.1016/j.jbc.2022.102159

PMCID:: PMC9364035

Abstract Article PDF–3.2M

Select item 17202293.

Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study

J Fraser, A Gason, J Wraith, M Delatycki

Arch Dis Child. 2005 Dec; 90(12): 1239–1242. doi: 10.1136/adc.2004.065482

PMCID:: PMC1720229

Summary PDF–62K

Select item 88648744.

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach

Sally Lanar, Samantha Parker, Cara O’Neill, Alexia Marrel, Benoit Arnould, Bénédicte Héron, Nicole Muschol, Frits A. Wijburg, Anupam Chakrapani, Sophie Olivier, Karen Aiach

Orphanet J Rare Dis. 2022; 17: 75. Published online 2022 Feb 22. doi: 10.1186/s13023-022-02208-w

PMCID:: PMC8864874

Abstract Article PDF–1.5M

Select item 85316675.

Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells

Rebecca J. Lehmann, Lachlan A. Jolly, Brett V. Johnson, Megan S. Lord, Ha Na Kim, Jennifer T. Saville, Maria Fuller, Sharon Byers, Ainslie L.K. Derrick-Roberts

Mol Genet Metab Rep. 2021 Dec; 29: 100811. Published online 2021 Oct 19. doi: 10.1016/j.ymgmr.2021.100811

PMCID:: PMC8531667

Abstract Article PDF–7.7M

Select item 17836526.

Lentiviral-mediated gene correction of mucopolysaccharidosis type IIIA

Donald S Anson, Chantelle McIntyre, Belinda Thomas, Rachel Koldej, Enzo Ranieri, Ainslie Roberts, Peter R Clements, Kylie Dunning, Sharon Byers

Genet Vaccines Ther. 2007; 5: 1. Published online 2007 Jan 16. doi: 10.1186/1479-0556-5-1

PMCID:: PMC1783652

Abstract Article PDF–359K

Select item 78148697.

Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series.

Elsa Shapiro, Alia Ahmed, Chester Whitley, Kathleen Delaney

Mol Genet Metab. Author manuscript; available in PMC 2021 Jan 19.

Published in final edited form as: Mol Genet Metab. 2018 Feb; 123(2): 123–126. Published online 2017 Nov 28. doi: 10.1016/j.ymgme.2017.11.014

PMCID:: PMC7814869

Abstract Article PDF–191K

Select item 73914688.

A Cure for Sanfilippo Syndrome? A Summary of Current Therapeutic Approaches and their Promise

Yewande Pearse, Michelina Iacovino

Med Res Arch. Author manuscript; available in PMC 2020 Jul 30.

Published in final edited form as: Med Res Arch. 2020 Feb 1; 8(2): 10.18103/mra.v8i2.2045. Published online 2020 Feb 21. doi: 10.18103/mra.v8i2.2045

PMCID:: PMC7391468

Abstract Article PDF–348K

Select item 29871859.

Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease

Dariusz Dziedzic, Grzegorz Węgrzyn, Joanna Jakóbkiewicz-Banecka

Eur J Hum Genet. 2010 Feb; 18(2): 200–205. Published online 2009 Aug 19. doi: 10.1038/ejhg.2009.144

PMCID:: PMC2987185

Abstract Article PDF–277K

Select item 709380110.

Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group

Anja F. Köhn, Lorenz Grigull, Marcel du Moulin, Sarah Kabisch, Luise Ammer, Cornelia Rudolph, Nicole M. Muschol

Mol Genet Metab Rep. 2020 Jun; 23: 100578. Published online 2020 Mar 23. doi: 10.1016/j.ymgmr.2020.100578

PMCID:: PMC7093801

Abstract Article PDF–287K

Select item 706456011.

Retinal Degeneration in MPS-IIIA Mouse Model

Daniela Intartaglia, Giuliana Giamundo, Elena Marrocco, Veronica Maffia, Francesco Giuseppe Salierno, Edoardo Nusco, Alessandro Fraldi, Ivan Conte, Nicolina Cristina Sorrentino

Front Cell Dev Biol. 2020; 8: 132. Published online 2020 Mar 4. doi: 10.3389/fcell.2020.00132

PMCID:: PMC7064560

Abstract Article PDF–6.7M

Select item 694061512.

AAVrh10 Vector Corrects Disease Pathology in MPS IIIA Mice and Achieves Widespread Distribution of SGSH in Large Animal Brains

Michaël Hocquemiller, Kim M. Hemsley, Meghan L. Douglass, Sarah J. Tamang, Daniel Neumann, Barbara M. King, Helen Beard, Paul J. Trim, Leanne K. Winner, Adeline A. Lau, Marten F. Snel, Cathy Gomila, Jérôme Ausseil, Xin Mei, Laura Giersch, Mark Plavsic, Ralph Laufer

Mol Ther Methods Clin Dev. 2020 Jun 12; 17: 174–187. Published online 2019 Dec 10. doi: 10.1016/j.omtm.2019.12.001

PMCID:: PMC6940615

Abstract Article PDF–1.5M

Select item 632302813.

Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain

Leanne K. Winner, Neil R. Marshall, Robert D. Jolly, Paul J. Trim, Stephen K. Duplock, Marten F. Snel, Kim M. Hemsley

JIMD Rep. 2019; 43: 91–101. Published online 2018 Jun 20. doi: 10.1007/8904_2018_110

PMCID:: PMC6323028

Abstract Article PDF–533K

Select item 632302414.

Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice

Ningning Guo, Victor DeAngelis, Changzhi Zhu, Edward H. Schuchman, Calogera M. Simonaro

JIMD Rep. 2019; 43: 37–52. Published online 2018 Apr 14. doi: 10.1007/8904_2018_96

PMCID:: PMC6323024

Abstract Article PDF–2.3M

Select item 631465115.

A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA

Xiaohua Li, Rui Xiao, Baiyu Chen, Guanglu Yang, Xiaomeng Zhang, Zhuo Fu, Junxian Fu, Mengli Zhuang, Yinglong Huang

Medicine (Baltimore) 2018 Dec; 97(52): e13758. Published online 2018 Dec 28. doi: 10.1097/MD.0000000000013758

PMCID:: PMC6314651

Abstract Article PDF–827K

Select item 1157361716.

Anti-amyloid treatment is broadly effective in neuronopathic mucopolysaccharidoses and synergizes with gene therapy in MPS-IIIA

Marianna Giaccio, Antonio Monaco, Laura Galiano, Andrea Parente, Luigi Borzacchiello, Riccardo Rubino, Frank-Gerrit Klärner, Dennis Killa, Claudia Perna, Pasquale Piccolo, Marcello Marotta, Xuefang Pan, Marie Khijniak, Ibrar Siddique, Thomas Schrader, Alexey V. Pshezhetsky, Nicolina Cristina Sorrentino, Gal Bitan, Alessandro Fraldi

Mol Ther. 2024 Nov 6; 32(11): 4108–4121. Published online 2024 Sep 28. doi: 10.1016/j.ymthe.2024.09.030