| 1 |
Multifaceted roles of ultra-rare and rare disease patients/parents in drug discovery
Jill Wood, Lori Sames, Allison T. Moore et al. · Drug Discovery Today
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19 Aug 2013 |
40 |
| 2 |
Industrializing rare disease therapy discovery and development
Sean Ekins · Nature Biotechnology
Open access |
Feb 2017 |
30 |
| 3 |
Collaboration for rare disease drug discovery research
Nadia K. Litterman, Michele Rhee, David C. Swinney et al. · F1000Research
Open access |
31 Oct 2014 |
28 |
| 4 |
Enabling Anyone to Translate Clinically Relevant Ideas to Therapies
Sean Ekins, Natalie Diaz, Julia A. Chung et al. · Pharmaceutical Research
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12 Sep 2016 |
24 |
| 5 |
Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human α-N-Acetylglucosamine-6-Sulfatase in Neonatal Mice
Rui Wang, Derek R. Moen, Chelsee Sauni et al. · Molecular Pharmaceutics
Open access |
15 Dec 2020 |
17 |
| 6 |
Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice
Don Clarke, Yewande Pearse, Shih‐hsin Kan et al. · Molecular Therapy — Methods & Clinical Development
Open access |
23 Jul 2018 |
16 |
| 7 |
Evaluation of artificial signal peptides for secretion of two lysosomal enzymes in CHO cells
Kai-Wen Cheng, Rui Wang, George A. Lopez et al. · Biochemical Journal
Open access |
25 May 2021 |
13 |
| 8 |
Histological characterization of retinal degeneration in mucopolysaccharidosis type IIIC
Jessica E. Ludwig, Onkar B. Sawant, Jill Wood et al. · Experimental Eye Research
Open access |
27 Feb 2023 |
10 |
| 9 |
Incentives for Starting Small Companies Focused on Rare and Neglected Diseases
Sean Ekins, Jill Wood · Pharmaceutical Research
Open access |
14 Dec 2015 |
8 |
| 10 |
Shedding Light on Synergistic Chemical Genetic Connections with Machine Learning
Sean Ekins, Jair L. Siqueira-Neto · Cell Systems
Open access |
Dec 2015 |
4 |
| 11 |
Chaperone therapy for mucopolysaccharidosis type IIIC
Alexey V. Pshezhetsky, Xuefang Pan, Rachel Heon‐Roberts et al. · Molecular Genetics and Metabolism
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Feb 2018 |
2 |
| 12 |
Recombinant human alpha-N-acetylglucosamine-6-sulfatase delivered to Sanfilippo D mice with repeated intracerebroventricular injections corrects CNS pathology
Grant L. Austin, Rui Wang, Steven Q. Le et al. · PLoS ONE
Open access |
25 Jul 2025 |
1 |
| 13 |
iPSC derived neurons of mucopolysaccharidosis III patients show pronounced synaptic defects
Travis Mooree, Poulomee Bose, Jill Wood et al. · Molecular Genetics and Metabolism
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Feb 2022 |
1 |
| 14 |
Pilot enzyme replacement therapy with recombinant human glucosamine (N-acetyl)-6-sulfatase in mucopolysaccharidosis type IIID mouse model
Chelsee Sauni, Feng Wang, Shih‐hsin Kan et al. · Molecular Genetics and Metabolism
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Feb 2018 |
1 |
| 15 |
Scale-up processing of recombinant human glucosamine (n-acetyl)-6-sulfatase for the treatment of mucopolysaccharidosis type IIID
Derek R. Moen, Mengqing Chen, Shih‐hsin Kan et al. · Molecular Genetics and Metabolism
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2017 |
1 |
| 16 |
Expanding the clinical spectrum of sanfilippo syndrome type D: Detailed phenotyping from a nine-participant cohort
Andres Morales Corado, Candace Cameron, Arang Kim et al. · Molecular Genetics and Metabolism
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May 2026 |
0 |
| 17 |
Synthetic analogue of adrenocorticotropic hormone, ACTH (4-7) PGP delays neurological manifestations in diseases of mucopolysaccharidosis III spectrum by reducing neuroinflammation and rescuing neurotransmission, synaptogenesis, and axonal demyelination
Travis I. Moore et al. · bioRxiv (Cold Spring Harbor Laboratory)
Preprint |
24 Feb 2026 |
0 |
| 18 |
Insulin Medication Trends in Diabetes Management: A Comprehensive USDDS Database Analysis
Okelue Edwards Okobi, Olutayo Olaide Olasupo, Akinbanji R Afolabi et al. · Journal of Advances in Medicine and Medical Research
Open access |
31 Jul 2024 |
0 |
| 19 |
Uptake and Lysosomal Delivery of Recombinant Human Alpha‐ N ‐Acetylglucosamine‐6‐Sulfatase to Mucopolysaccharidosis IIID Fibroblasts
Derek R. Moen, Daniel Wang, Xiaoyi Zhang et al. · The FASEB Journal
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Apr 2016 |
0 |
| 20 |
A natural history study of Sanfilippo syndrome type D (MPS type IIID)
Heather Lau, Pramod Kumar Mistry, Jill Wood et al. · Molecular Genetics and Metabolism
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Feb 2022 |
0 |
| 21 |
Enzyme replacement therapy (ERT) for MPS IIID
Tsui‐Fen Chou, Rui Wang, Steven Q. Le et al. · Molecular Genetics and Metabolism
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Feb 2022 |
0 |
| 22 |
Histological Characterization of Photoreceptor Degeneration in a Mouse Model of Mucopolysaccharidosis Type IIIC
Onkar Sawant, Jill Wood, Srikanth Singamsetty et al. · Investigative Ophthalmology & Visual Science
Open access |
10 Jun 2020 |
0 |
| 23 |
Enzyme replacement therapy for mucopolysaccharidosis type IIID
Tsui‐Fen Chou, Derek R. Moen, Chelsee Sauni et al. · Molecular Genetics and Metabolism
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Feb 2019 |
0 |
| 24 |
How our approach for Sanfilippo syndrome could be a prototype for industrializing rare disease drug discovery and development
Jill Wood, Sean Ekins · Molecular Genetics and Metabolism
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2017 |
0 |
| 25 |
Phoenix Nest: Starting a small company focused on Sanfilippo syndrome
Sean Ekins, Jill Wood · Molecular Genetics and Metabolism
Open access |
28 Jan 2015 |
0 |
| 26 |
Virtual collaborations for developing Sanfilippo syndrome treatments on a shoestring
Sean Ekins, Derek R. Moen, Jill Wood · Molecular Genetics and Metabolism
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Feb 2016 |
0 |