Lysosomal Storage Disorders Research

TopicLeading institutions, researchers & key papers

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.

115

Works

IDs:OpenAlex

How has Lysosomal Storage Disorders Research's publication output changed over time?

ScholarIQpublication output · 2000–2018

Output declined50% over the shown period — from 2 works in 2000 to 1 in 2018.

2000200120042007200920102015201620172018

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

New England Journal of Medicine. 20092,142 CitationsOPEN ACCESS

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

JAMA. 20011,307 Citations

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

S42433034. 2018651 CitationsOPEN ACCESS

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

Annals of Internal Medicine. 2007567 Citations

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

New England Journal of Medicine. 2016560 CitationsOPEN ACCESS