Search Results - "lysosomal storage disorders"

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  1. 1
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    Unsheathing new insights into lysosomal storage disorders by Kirsty M. Hooper

    Published 2023
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  2. 2
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    Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches

    Published 2021
    Subjects: “…lysosomal storage disorders…”
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  3. 3
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    Knowledge of Primary Care Physicians on Lysosomal Storage Disorders by Engin Köse, Selda Bülbül, Nur Arslan

    Published 2019
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  4. 4
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    Current State of the Art of Newborn Screening for Lysosomal Storage Disorders by David S. Millington, Deeksha S. Bali

    Published 2018
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  5. 5
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    Induced pluripotent stem cell models of lysosomal storage disorders by Daniel K. Borger, Benjamin McMahon, Tamanna Roshan Lal, Jenny Serra-Vinardell, Elma Aflaki, Ellen Sidransky

    Published 2017
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  6. 6
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    Prevalence of lysosomal storage disorders in Australia from 2009 to 2020 by Sharon J Chin, Maria Fuller

    Published 2022
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  7. 7
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    Atypical Mongolian spots in an infant: A harbinger of lysosomal storage disorders by Manisha Varma Gadhiraju, Navya Sree Manugu, Sangeetha Etikela, Yerroju Kodandapani

    Published 2021
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  8. 8
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    The COVID-19 Pandemic and Enzyme Replacement Therapy in Lysosomal Storage Disorders by Asburçe Olgaç, Çiğdem Seher Kasapkara, Burak Açıkel, Yılmaz Yıldız, Gülhan Karakaya Molla, Mustafa Kılıç

    Published 2021
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  9. 9
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    A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders by Karen A. Sanders, Dimitar K. Gavrilov, Devin Oglesbee, Kimiyo M. Raymond, Silvia Tortorelli, John J. Hopwood, Fred Lorey, Ramanath Majumdar, Charles A. Kroll, Amber M. McDonald, Jean M. Lacey, Coleman T. Turgeon, Justin N. Tucker, Hao Tang, Robert Currier, Grazia Isaya, Piero Rinaldo, Dietrich Matern

    Published 2020
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  10. 10
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    Newborn Screening for Krabbe Disease and Other Lysosomal Storage Disorders: Broad Lessons Learned by Joseph J. Orsini, Michele Caggana

    Published 2017
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  11. 11
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    Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy by Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P. Burlina, Alberto B. Burlina

    Published 2023
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  12. 12
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    Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises by Fedah E. Mohamed, Lihadh Al-Gazali, Fatma Al-Jasmi, Bassam R. Ali, Bassam R. Ali

    Published 2017
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  13. 13
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    Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry by Ruotong Li, Liping Tian, Qing Gao, Yuanfang Guo, Gaijie Li, Yulin Li, Meng Sun, Yan Yan, Qing Li, Wenying Nie, Hui Zou

    Published 2022
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  14. 14
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    Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots by Michael H. Gelb, Zoltan Lukacs, Enzo Ranieri, Peter C. J. I. Schielen

    Published 2018
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  15. 15
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    Assessment of Target Engagement in a First‐in‐Human Trial with Sinbaglustat, an Iminosugar to Treat Lysosomal Storage Disorders by Martine Gehin, Meggane Melchior, Richard W.D. Welford, Patricia N. Sidharta, Jasper Dingemanse

    Published 2021
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  16. 16
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    Development and Evaluation of Different Electrospun Cysteamine-Loaded Nanofibrous Webs: A Promising Option for Treating a Rare Lysosomal Storage Disorder by Safaa Omer, Nándor Nagy, Balázs Pinke, László Mészáros, Adrienn Kazsoki, Romána Zelkó

    Published 2024
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  17. 17
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    Multiplexing Iduronate-2-Sulphatase (MPS-II) into a 7-Plex Lysosomal Storage Disorder MS/MS Assay Using Cold-Induced Phase Separation by Elya Courtney, C. Austin Pickens, Carla Cuthbert, Konstantinos Petritis

    Published 2023
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  18. 18
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    Bioética da proteção e tratamento de doenças genéticas raras no Brasil: o caso das doenças de depósito lisossomal Principle of protection and treatment of rare genetic diseases in Brazil: the case of lysosomal storage disorders by Raquel Boy, Fermin Roland Schramm

    Published 2009
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  19. 19
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    Cellular and Molecular Mechanisms of Nephropathic Cystinosis

    Published 2022
    Subjects: “…lysosomal storage disorder…”
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  20. 20
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    Advanced Blood-Brain Barrier Drug Delivery

    Published 2023
    Subjects: “…lysosomal storage disorders…”
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