Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases von Huizing, Marjan, Yardeni, Tal, Fuentes, Federico, Malicdan, May C.V., Leoyklang, Petcharat, Volkov, Alexander, Dekel, Benjamin, Brede, Emily, Blake, Jodi, Powell, Alva, Chatrathi, Harish, Anikster, Yair, Carrillo, Nuria, Gahl, William A., Kopp, Jeffrey B.

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Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease von Beck, David B, Ferrada, Marcela A, Sikora, Keith A, Ombrello, Amanda K, Collins, Jason C, Pei, Wuhong, Balanda, Nicholas, Ross, Daron L, Ospina Cardona, Daniela, Wu, Zhijie, Patel, Bhavisha, Manthiram, Kalpana, Groarke, Emma M, Gutierrez-Rodrigues, Fernanda, Hoffmann, Patrycja, Rosenzweig, Sofia, Nakabo, Shuichiro, Dillon, Laura W, Hourigan, Christopher S, Tsai, Wanxia L, Gupta, Sarthak, Carmona-Rivera, Carmelo, Asmar, Anthony J, Xu, Lisha, Oda, Hirotsugu, Goodspeed, Wendy, Barron, Karyl S, Nehrebecky, Michele, Jones, Anne, Laird, Ryan S, Deuitch, Natalie, Rowczenio, Dorota, Rominger, Emily, Wells, Kristina V, Lee, Chyi-Chia R, Wang, Weixin, Trick, Megan, Mullikin, James, Wigerblad, Gustaf, Brooks, Stephen, Dell’Orso, Stefania, Deng, Zuoming, Chae, Jae J, Dulau-Florea, Alina, Malicdan, May C.V, Novacic, Danica, Colbert, Robert A, Kaplan, Mariana J, Gadina, Massimo, Savic, Sinisa, Lachmann, Helen J, Abu-Asab, Mones, Solomon, Benjamin D, Retterer, Kyle, Gahl, William A, Burgess, Shawn M, Aksentijevich, Ivona, Young, Neal S, Calvo, Katherine R, Werner, Achim, Kastner, Daniel L, Grayson, Peter C

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Hermansky–Pudlak syndrome: Mutation update von Huizing, Marjan, Malicdan, May C. V., Wang, Jennifer A., Pri‐Chen, Hadass, Hess, Richard A., Fischer, Roxanne, O'Brien, Kevin J., Merideth, Melissa A., Gahl, William A., Gochuico, Bernadette R.

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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation von Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.

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Free sialic acid storage disorder: Progress and promise von Huizing, Marjan, Hackbarth, Mary E., Adams, David R., Wasserstein, Melissa, Patterson, Marc C., Walkley, Steven U., Gahl, William A., Adams, David R., Dobrenis, Kostantin, Foglio, Jessica, Gahl, William A., Gasnier, Bruno, Hackbarth, Mary, Huizing, Marjan, Lek, Monkol, Malicdan, May C.V., Paavola, Liisa E., Patterson, Marc C., Reimer, Richard, Walkley, Steven U., Wasserstein, Melissa, Wang, Raymond Y., Zoncu, Roberto

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Mutations in GET4 disrupt the transmembrane domain recognition complex pathway von Tambe, Mitali A., Ng, Bobby G., Shimada, Shino, Wolfe, Lynne A., Adams, David, Gahl, William A., Malicdan, May C.V., Freeze, Hudson H.

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Mutations in GET4 disrupt the transmembrane domain recognition complex pathway von Tambe, Mitali A., Ng, Bobby G., Shimada, Shino, Wolfe, Lynne A., Adams, David R., Gahl, William A., Bamshad, Michael J., Nickerson, Deborah A., Malicdan, May C. V., Freeze, Hudson H.

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A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease von Gochuico, Bernadette R., Ziegler, Shira G., Ten, Nicholas S., Balanda, Nicholas J., Mason, Christopher E., Zumbo, Paul, Evans, Colleen A., Van Waes, Carter, Gahl, William A., Malicdan, May C.V.

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Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism von Burke, E.A., Frucht, S.J., Thompson, K., Wolfe, L.A., Yokoyama, T., Bertoni, M., Huang, Y., Sincan, M., Adams, D.R., Taylor, R.W., Gahl, W.A., Toro, C., Malicdan, M.C.V.

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Inflammatory bowel disease in Hermansky–Pudlak syndrome: a retrospective single‐centre cohort study von O’Brien, K. J., Parisi, X., Shelman, N. R., Merideth, M. A., Introne, W. J., Heller, T., Gahl, W. A., Malicdan, M. C. V., Gochuico, B. R.

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Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar... von Malicdan, M C V, Noguchi, S, Nishino, I

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