Torthaí cuardaigh - Marjan Huizing

Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome de réir Kerry Morrone, Yanhua Wang, Marjan Huizing, Elie Sutton, James G. White, William A. Gahl, Karen Moody

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Genetic variants associated with Hermansky-Pudlak syndrome de réir Melissa A. Merideth, Wendy J. Introne, Jennifer A. Wang, Kevin J. O’Brien, Marjan Huizing, Bernadette R. Gochuico

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Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease de réir Marya S. Sabir, Mahin S. Hossain, Laura Pollard, Marjan Huizing, William A. Gahl, Frances M. Platt, May Christine V. Malicdan

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Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria de réir Christina Lam, Linda K. Gallo, Richard Dineen, Carla Ciccone, Heidi Dorward, George E. Hoganson, Lynne Wolfe, William A. Gahl, Marjan Huizing

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Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. de réir Thierry Vilboux, Carla Ciccone, Jan K Blancato, Gerald F Cox, Charu Deshpande, Wendy J Introne, William A Gahl, Ann C M Smith, Marjan Huizing

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Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder de réir Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan

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Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder de réir Marya S. Sabir, Laura Pollard, Lynne Wolfe, David R. Adams, Carla Ciccone, Petcharat Leoyklang, Frances M. Platt, Marjan Huizing, William A. Gahl, May Christine V. Malicdan

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Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD) de réir Marya S. Sabir, Petcharat Leoyklang, Mary E. Hackbarth, Evgenia Pak, Amalia Dutra, Richard Tait, Laura Pollard, David R. Adams, William A. Gahl, Marjan Huizing, May Christine V. Malicdan

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Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism de réir Marya S. Sabir, Vukasin M. Jovanovic, Seungmi Ryu, Chaitali Sen, Pinar Ormanoglu, Laura Pollard, Richard Steet, William A. Gahl, Marjan Huizing, Carlos A. Tristan, Frances M. Platt, May Christine V. Malicdan

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Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder de réir Marya S. Sabir, Kostantin Dobrenis, Allisandra K. Rha, Laura Pollard, Petcharat Leoyklang, Mariah Marrero, Carla Ciccone, Mary E. Hackbarth, Marjan Huizing, Raymond Y. Wang, William A. Gahl, Frances M. Platt, May Christine V. Malicdan

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Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising de réir Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico

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

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Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies de réir Marjan Huizing, Anirban Ganguli, Jonathan Bolaños, Petcharat Leoyklang, Kenneth J. Wilkins, Yi Zeng, William D. Figg, Francis Rossignol, May Christine V. Malicdan, Jeffrey B. Kopp, William A. Gahl, Andrea Ashton, Jodi L. Blake, Thomas A. Cassini, Kevin J. O’Brien

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