Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix von Trinidad, Marena, Hong, Xinying, Froelich, Steven, Daiker, Jessica, Sacco, James, Nguyen, Hong Phuc, Campagna, Madelynn, Suhr, Dean, Suhr, Teryn, LeBowitz, Jonathan H, Gelb, Michael H, Clark, Wyatt T

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Inhibition of endogenous miR‐23a/miR‐377 in CHO cells enhances difficult‐to‐express recombinant lysosomal sulfatase activity von Amadi, Ifeanyi Michael, Agrawal, Vishal, Christianson, Terri, Bardliving, Cameron, Shamlou, Parviz, LeBowitz, Jonathan H.

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Identifying therapeutic drug targets using bidirectional effect genes von Estrada, Karol, Froelich, Steven, Wuster, Arthur, Bauer, Christopher R., Sterling, Teague, Clark, Wyatt T., Ru, Yuanbin, Trinidad, Marena, Nguyen, Hong Phuc, Luu, Amanda R., Wendt, Daniel J., Yogalingam, Gouri, Yu, Guoying Karen, LeBowitz, Jonathan H., Cardon, Lon R.

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Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence von Clark, Wyatt T, Yu, G Karen, Aoyagi-Scharber, Mika, LeBowitz, Jonathan H

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Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB von Kan, Shih-hsin, Aoyagi-Scharber, Mika, Le, Steven Q., Vincelette, Jon, Ohmi, Kazuhiro, Bullens, Sherry, Wendt, Daniel J., Christiansen, Terri M., Tiger, Pascale M. N., Brown, Julian R., Lawrence, Roger, Yip, Bryan K., Holtzinger, John, Bagri, Anil, Crippen-Harmon, Danielle, Vondrak, Kristen N., Chen, Zhi, Hague, Chuck M., Woloszynek, Josh C., Cheung, Diana S., Webster, Katherine A., Adintori, Evan G., Lo, Melanie J., Wong, Wesley, Fitzpatrick, Paul A., LeBowitz, Jonathan H., Crawford, Brett E., Bunting, Stuart, Dickson, Patricia I., Neufeld, Elizabeth F.

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Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants von Silva, Dina Buitrago, Trinidad, Marena, Ljungdahl, Alicia, Revalde, Jezrael L., Berguig, Geoffrey Y., Wallace, William, Patrick, Cory S., Bomba, Lorenzo, Arkin, Michelle, Dong, Shan, Estrada, Karol, Hutchinson, Keino, LeBowitz, Jonathan H., Schlessinger, Avner, Johannesen, Katrine M., Møller, Rikke S., Giacomini, Kathleen M., Froelich, Steven, Sanders, Stephan J., Wuster, Arthur

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Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016 von Clark, Wyatt T., Kasak, Laura, Bakolitsa, Constantina, Hu, Zhiqiang, Andreoletti, Gaia, Babbi, Giulia, Bromberg, Yana, Casadio, Rita, Dunbrack, Roland, Folkman, Lukas, Ford, Colby T., Jones, David, Katsonis, Panagiotis, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier L., Mooney, Sean D., Nodzak, Conor, Pal, Lipika R., Radivojac, Predrag, Savojardo, Castrense, Shi, Xinghua, Zhou, Yaoqi, Uppal, Aneeta, Xu, Qifang, Yin, Yizhou, Pejaver, Vikas, Wang, Meng, Wei, Liping, Moult, John, Yu, Guoying Karen, Brenner, Steven E., LeBowitz, Jonathan H.

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Patient with Refractory Acquired Thrombotic Thrombocytopenic Purpura Treated with a Novel Agent Caplacizumab: PO0295 von Sharma, Pranav, Lebowitz, Jonathan

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Role of Coronary Angiography in the Assessment of Cardiovascular Risk in Kidney Transplant Candidates von Mann, David M., MD, Fernandez, Sonalis, MD, Mondal, Zahidul, MD, Laskow, David, MD, Osband, Adena, MD, Debroy, Meelie, MD, Lebowitz, Jonathan, MD, Coromilas, James, MD, Vagaonescu, Tudor, MD, Moreyra, Abel, MD, Melita, Elizabeth A., BA, Mann, Richard A., MD

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Clearance of Heparan Sulfate and Attenuation of CNS Pathology by Intracerebroventricular BMN 250 in Sanfilippo Type B Mice von Aoyagi-Scharber, Mika, Crippen-Harmon, Danielle, Lawrence, Roger, Vincelette, Jon, Yogalingam, Gouri, Prill, Heather, Yip, Bryan K, Baridon, Brian, Vitelli, Catherine, Lee, Amanda, Gorostiza, Olivia, Adintori, Evan G, Minto, Wesley C, Van Vleet, Jeremy L, Yates, Bridget, Rigney, Sara, Christianson, Terri M, Tiger, Pascale M N, Lo, Melanie J, Holtzinger, John, Fitzpatrick, Paul A, LeBowitz, Jonathan H, Bullens, Sherry, Crawford, Brett E, Bunting, Stuart

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Differential Uptake of NAGLU-IGF2 and Unmodified NAGLU in Cellular Models of Sanfilippo Syndrome Type B von Prill, Heather, Luu, Amanda, Yip, Bryan, Holtzinger, John, Lo, Melanie J., Christianson, Terri M., Yogalingam, Gouri, Aoyagi-Scharber, Mika, LeBowitz, Jonathan H., Crawford, Brett E., Lawrence, Roger

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Glycosylation-Independent Targeting Enhances Enzyme Delivery to Lysosomes and Decreases Storage in Mucopolysaccharidosis Type VII Mice von LeBowitz, Jonathan H., Grubb, Jeffrey H., Maga, John A., Schmiel, Deborah H., Vogler, Carole, Sly, William S.

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Nephrotic Range Proteinuria due to ANCA-Associated Vasculitis in a Diffuse Systemic Sclerosis Patient: A Rare Presentation: PO1493 von Sharma, Pranav, Khalil, Steve I., Lebowitz, Jonathan

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Morbid Obesity Is Not an Independent Predictor of Graft Failure or Patient Mortality After Kidney Transplantation von Pieloch, Daniel, MS, RD, Dombrovskiy, Viktor, MD, PhD, MPH, Osband, Adena J., MD, Lebowitz, Jonathan, MD, Laskow, David A., MD

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The Epithelial Sodium Channel (ENaC) Traffics to Apical Membrane in Lipid Rafts in Mouse Cortical Collecting Duct Cells von Hill, Warren G., Butterworth, Michael B., Wang, Huamin, Edinger, Robert S., Lebowitz, Jonathan, Peters, Kathryn W., Frizzell, Raymond A., Johnson, John P.

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Atraumatic Splenic Rupture in a Patient on Apixaban and Clopidogrel: PUB117 von Patnaik, Pooja, Sharma, Pranav, Khalil, Steve I., Lebowitz, Jonathan

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A Retrospective Analysis of Fluid Balance in Patients With AKI and Respiratory Failure due to COVID-19: TH-PO078 von Sharma, Pranav, Bhagat, Amar M., Madu, Chioma, Lebowitz, Jonathan, Saro-Nunez, Lilian, Khalil, Steve I.

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A Rare Answer to a Common Presentation: Gastric Neoplasm in a Teenager With Vomiting von Lebowitz, Jonathan, Porto, Ariel, Clarke, Christine Nguyen, Sokol, Elizabeth, Fortunato, John E.

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Malakoplakia: A rare cause of hematochezia in pediatric patients von Porto, Ariel, Lebowitz, Jonathan, Byrd, Robert, Morgan, Elaine, Prozialeck, Joshua D.

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Intermittent enzyme replacement therapy prevents Neu1 deficiency von Luu, Amanda R., Wong, Cara, Agrawal, Vishal, Wise, Nathan, Handyside, Britta, Lo, Melanie J., Pacheco, Glenn, Felix, Jessica B., Giaramita, Alexander, d'Azzo, Alessandra, Vincelette, Jon, Bullens, Sherry, Bunting, Stuart, Christianson, Terri M., Hague, Charles M., LeBowitz, Jonathan H., Yogalingam, Gouri

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