Biomedical Research and Pathophysiology

TopicLeading institutions, researchers & key papers

This cluster of papers focuses on nephropathic cystinosis, a rare genetic lysosomal storage disorder. The research covers various aspects including the pathogenesis, treatment with cysteamine therapy, complications in multiple organs (especially renal and ocular), molecular genetics involving CTNS gene mutations, and the impact on cellular processes such as autophagy and mitochondrial function.

125

Works

IDs:OpenAlex

How has Biomedical Research and Pathophysiology's publication output changed over time?

ScholarIQpublication output · 1993–2024

Output grew0% over the shown period — from 1 works in 1993 to 1 in 2024.

1993199820072012201420152016201820212024

What are the most-cited papers on Biomedical Research and Pathophysiology?

ScholarIQmost cited works

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

Margaret Town, G Jean, Stéphanie Cherqui, Marlene Attard, Lionel Forestier, S.A. Whitmore, David F. Callen, Olivier Gribouval, M. Broyer, Gillian P. Bates, William van’t Hoff, Corinne Antignac

S137905309. 1998644 Citations

Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study

Mieke Aldenhoven, Robert Wynn, Paul J. Orchard, Anne O’Meara, Paul Veys, Alain Fischer, Vassili Valayannopoulos, Bénédicte Neven, Attilio Rovelli, Vinod K. Prasad, Jakub Tolar, Heather Allewelt, Simon Jones, Rossella Parini, Marleen Renard, Victoria Bordon, Nico Wulffraat, Tom J. de Koning, Elsa Shapiro, Joanne Kurtzberg, Jaap Jan Boelens

Blood. 2015318 CitationsOPEN ACCESS

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2

Khalil El Karoui, Amandine Viau, Olivier Dellis, Alessia Bagattin, Clément Nguyen, William Baron, Martine Burtin, Mélanie Broueilh, Laurence Heidet, Géraldine Mollet, Anne Druilhe, Corinne Antignac, Bertrand Knebelmann, Gérard Friedlander, Frank Bienaimé, Morgan Gallazzini, Fabiola Terzi

Nature Communications. 2016121 CitationsOPEN ACCESS

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature

Ekaterini Tsilou, Min Zhou, William A. Gahl, Pamela C. Sieving, Chi‐Chao Chan

Survey of Ophthalmology. 2007108 CitationsOPEN ACCESS

Urinary enzymes in acute renal failure

S. L. Chew, R. Lins, R. Daelemans, G. Nuyts, Marc E. De Broe

Nephrology Dialysis Transplantation. 1993100 Citations