Arama Sonuçları - "lysosomal storage disorders"

Unsheathing new insights into lysosomal storage disorders Yazar: Kirsty M. Hooper

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Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches

Konular: “…lysosomal storage disorders…”
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Knowledge of Primary Care Physicians on Lysosomal Storage Disorders Yazar: Engin Köse, Selda Bülbül, Nur Arslan

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Current State of the Art of Newborn Screening for Lysosomal Storage Disorders Yazar: David S. Millington, Deeksha S. Bali

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

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Prevalence of lysosomal storage disorders in Australia from 2009 to 2020 Yazar: Sharon J Chin, Maria Fuller

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

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

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A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders Yazar: 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

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

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

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

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

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

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

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

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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 Yazar: Elya Courtney, C. Austin Pickens, Carla Cuthbert, Konstantinos Petritis

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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 Yazar: Raquel Boy, Fermin Roland Schramm

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Cellular and Molecular Mechanisms of Nephropathic Cystinosis

Konular: “…lysosomal storage disorder…”
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Advanced Blood-Brain Barrier Drug Delivery

Konular: “…lysosomal storage disorders…”
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