Search Results - Marjan Huizing

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  1. 1

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

    Published in Case Reports in Medicine (2010-01-01)
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  2. 2

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

    Published in Platelets (2020-05-01)
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  3. 3

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

    Published in Biochemistry and Biophysics Reports (2025-06-01)
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  4. 4

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

    Published in Molecular Genetics and Metabolism Reports (2014-01-01)
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  5. 5

    Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder by 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

    Published in Rare (2025-01-01)
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  6. 6

    Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder by 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

    Published in JIMD Reports (2025-07-01)
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  7. 7

    Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD) by 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

    Published in Stem Cell Research (2024-12-01)
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  8. 8

    Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism by 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

    Published in Scientific Reports (2025-08-01)
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  9. 9

    Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising by 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

    Published in Orphanet Journal of Rare Diseases (2019-02-01)
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  10. 10

    Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases by 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

    Published in Kidney International Reports (2019-10-01)
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