Newborn Screening for Gaucher Disease: The New Jersey Experience by Caitlin Menello, Shaney Pressley, Madeline Steffensen, Sarah Schmidt, Helio Pedro, Reena Jethva, Karen Valdez-Gonzalez, Darius J. Adams, Punita Gupta, Lorien Tambini King, Milen Velinov, Sharon Anderson, Peyman Bizargity, Beth Pletcher, Allysa Tuite, Christina Kresge, Debra Lynn Day-Salvatore, Ryan Kuehl, Can Ficicioglu

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Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis by Gennaro Napolitano, Jennifer L Johnson, Jing He, Celine J Rocca, Jlenia Monfregola, Kersi Pestonjamasp, Stephanie Cherqui, Sergio D Catz

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Clinical perspectives on myopathic complications in nephropathic cystinosis by Reza Sadjadi, Cybele Ghossein, Ewa Elenberg

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A very rare cause of protein losing enteropathy: Gaucher disease by Mehmet Akif Göktaş, Ersin Gümüş, Hülya Demir, Hayriye Hızarcıoğlu Gülşen, İnci Nur Saltık-Temizel, Hasan Özen, Şafak Güçer, Aysel Yüce

Subjects: “…enzyme replacement therapy; lymphadenopathy; lysosomal storage disorder; Gaucher disease…”
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Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China by Xin Wang, Yun Sun, Xian-Wei Guan, Yan-Yun Wang, Dong-Yang Hong, Zhi-Lei Zhang, Ya-Hong Li, Pei-Ying Yang, Tao jiang, Zheng-feng Xu

Subjects: “…Lysosomal storage disorder…”
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An innovative hematopoietic stem cell gene therapy approach benefits CLN1 disease in the mouse model by Marco Peviani, Sabyasachi Das, Janki Patel, Odella Jno‐Charles, Rajesh Kumar, Ana Zguro, Tyler D Mathews, Paolo Cabras, Rita Milazzo, Eleonora Cavalca, Valentina Poletti, Alessandra Biffi

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Fertility Management in Cystinosis: A Clinical Perspective by Craig B. Langman, Rowena B. Delos Santos, Cybele Ghossein, Andrea M. Atherton, Elena N. Levtchenko, Aude Servais

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Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in... by Paul Dantonio, Tracy Klug, Golriz Yazdanpanah, Christopher Haynes, Hui Zhou, Patrick Hopkins, Robert Vogt, Rachel Lee, Carla Cuthbert, Konstantinos Petritis

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Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management by A. Terrell, K. Sapp, B. Graham, M. McPheron, L. Wetherill

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Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program by Sabrina Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo Mura, Silvia Funghini, Daniela Ombrone, Giulia Forni, Emanuela Scolamiero, Filippo Coppi, Roberta Damiano, Cristina Cereda, Simonetta Simonetti, Annalisa Lonetti, Marta Daniotti, Anna Caciotti, Amelia Morrone, Valeria Calbi, Francesca Fumagalli, Alessandro Aiuti, Elena Procopio, Renzo Guerrini, Giancarlo la Marca

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Anderson–Fabry Disease: Focus on Ophthalmological Implications by Francesca Giovannetti, Mattia D’Andrea, Federico Bracci, Andrea Frustaci, Cristina Chimenti, Pietro Mangiantini, Alessandro Lambiase, Marco Marenco

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A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE) by Bénédicte Héron, Spyros Batzios, Eugen Mengel, Roberto Giugliani, Marc Patterson, Matthias Gautschi, Peter Cornelisse, Luba Trokan, Barbara Schwierin, Marianne Rohrbach

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Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon by Sarah Viall, Patrice Held

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Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing by Mona M. Makhamreh, Kavya Shivashankar, Stephanie M. Rice, Sascha Wodoslawsky, Christina Grant, Rodney McLaren, Seth I. Berger, Huda B. Al-Kouatly

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Autologous, lentivirus‐modified, T‐rapa cell “micropharmacies” for lysosomal storage disorders by Murtaza S Nagree, Tania C Felizardo, Mary L Faber, Jitka Rybova, C Anthony Rupar, S Ronan Foley, Maria Fuller, Daniel H Fowler, Jeffrey A Medin

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Gaucher’s disease: orphan disease in pediatric practice by T. A. Bokova

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Systemic ceramide accumulation leads to severe and varied pathological consequences by Abdulfatah M. Alayoubi, James C. M. Wang, Bryan C. Y. Au, Stéphane Carpentier, Virginie Garcia, Shaalee Dworski, Samah El‐Ghamrasni, Kevin N. Kirouac, Mathilde J. Exertier, Zi Jian Xiong, Gilbert G. Privé, Calogera M. Simonaro, Josefina Casas, Gemma Fabrias, Edward H. Schuchman, Patricia V. Turner, Razqallah Hakem, Thierry Levade, Jeffrey A. Medin

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Modulation of mTOR signaling as a strategy for the treatment of Pompe disease by Jeong‐A Lim, Lishu Li, Orian S Shirihai, Kyle M Trudeau, Rosa Puertollano, Nina Raben

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CRISPR/Cas-Based Ex Vivo Gene Therapy and Lysosomal Storage Disorders: A Perspective Beyond Cas9 by Andrés Felipe Leal, Luis Eduardo Prieto, Harry Pachajoa

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Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases by Irene Sambri, Rosa D'Alessio, Yulia Ezhova, Teresa Giuliano, Nicolina Cristina Sorrentino, Vincenzo Cacace, Maria De Risi, Mauro Cataldi, Lucio Annunziato, Elvira De Leonibus, Alessandro Fraldi

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