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Lysosomal Storage Disorders Research
TopicLeading institutions, researchers & key papers
Lysosomal Storage Disorders Research is a topic indexed in ScholarIQ from OpenAlex.
What is known about Lysosomal Storage Disorders Research?
ScholarIQrecord summary
This cluster of papers explores the diverse aspects of lysosomal storage disorders, including enzyme replacement therapy, genetic mutations, and the impact on various diseases such as Gaucher disease, Fabry disease, Niemann-Pick disease, and Parkinson's disease. It also delves into the underlying mechanisms related to cholesterol metabolism and neuronal ceroid lipofuscinoses.
How many works does Lysosomal Storage Disorders Research have?
ScholarIQindexed works
Lysosomal Storage Disorders Research has 115 works in the ScholarIQ index. The count is the OpenAlex total, not the number of papers listed on this page.
What is the OpenAlex record for Lysosomal Storage Disorders Research?
ScholarIQopenalex
The OpenAlex for Lysosomal Storage Disorders Research is on the source record.
What are the most-cited papers on Lysosomal Storage Disorders Research?
ScholarIQmost cited works
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
E. Sidransky, Mike A. Nalls, Jan Aasly, J. Aharon‐Peretz, Grazia Annesi, Egberto Reis Barbosa, Anat Bar‐Shira, Daniela Berg, José Brás, Alexis Brice, Chien‐Ming Chen, Lorraine N. Clark, Christel Condroyer, Elvira Valeria De Marco, Alexandra Dürr, Michael J. Eblan, S Fahn, Matthew J. Farrer, Hon‐Chung Fung, Ziv Gan‐Or, Thomas Gasser, Ruth Gershoni‐Baruch, Nir Giladi, Alida Griffith, Tanya Gurevich, Cristina Januário, Peter Kropp, Anthony E. Lang, Guey‐Jen Lee‐Chen, Suzanne Lesage, K. Marder, Ignácio F. Mata, Anat Mirelman, Jun Mitsui, Ikuko Mizuta, Giuseppe Nicoletti, Catarina R. Oliveira, Ruth Ottman, Avi Orr‐Urtreger, Lygia V. Pereira, Aldo Quattrone, Ekaterina Rogaeva, A. Rolfs, Hanna Rosenbaum, Roberto Rozenberg, Ali Samii, T. Samaddar, Claudia Schulte, Manu Sharma, Andrew Singleton, Mariana Spitz, Eng‐King Tan, N. Tayebi, Tatsushi Toda, A. R. Troiano, Shoji Tsuji, Matthias Wittstock, Tyra G. Wolfsberg, Yih‐Ru Wu, Cyrus P. Zabetian, Yirui Zhao, Shira G. Ziegler
Enzyme Replacement Therapy in Fabry Disease
Raphael Schiffmann, Jeffrey B. Kopp, Howard A. Austin, Sharda G. Sabnis, David F. Moore, Thais Weibel, James E. Balow, Roscoe O. Brady
Fabry disease revisited: Management and treatment recommendations for adult patients
Alberto Ortíz, Dominique P. Germain, Robert J. Desnick, Juan Politei, Michael Mauer, Alessandro P. Burlina, Christine M. Eng, Robert J. Hopkin, Dawn A. Laney, Aleš Linhart, Stephen Waldek, Eric Wallace, Frank Weidemann, William R. Wilcox
Agalsidase-Beta Therapy for Advanced Fabry Disease
Maryam Banikazemi, Jan Bultas, Stephen Waldek, William R. Wilcox, Chester B. Whitley, Marie McDonald, Richard S. Finkel, Seymour Packman, Daniel G. Bichet, David G. Warnock, Robert J. Desnick
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
Dominique P. Germain, Derralynn Hughes, Kathy Nicholls, Daniel G. Bichet, Roberto Giugliani, William R. Wilcox, Claudio Feliciani, Suma P. Shankar, Fatih Süheyl Ezgü, Hernan Amartino, Drago Bratkovic, Ulla Feldt‐Rasmussen, Khan Nedd, Usama Sharaf El Din, Charles Marques Lourenço, Maryam Banikazemi, Joel Charrow, Majed Dasouki, David N. Finegold, Pilar Giraldo, Özlem Göker-Alpan, Nicola Longo, C. Ronald Scott, Roser Torrá, Ahmad Tuffaha, Ana Jovanović, Stephen Waldek, Seymour Packman, Elizabeth Ludington, Christopher Viereck, John Kirk, Julie Yu, Elfrida R. Benjamin, Franklin K. Johnson, David J. Lockhart, Nina Skuban, Jeff Castelli, Jay Barth, Carrolee Barlow, Raphael Schiffmann
Where is Lysosomal Storage Disorders Research research published, and who funds it?
ScholarIQvenues & funding sources
TOP JOURNALS
TOP FUNDERS
National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
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How much of the research on Lysosomal Storage Disorders Research is open access?
ScholarIQopen access share
73%OPEN ACCESS