Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Back to research

Dent Disease with Mutations in OCRL1

2005331 citationsJournal Articlebronze Open Access

Authors

R R Hoopes · SUNY Upstate Medical University

Antony E. Shrimpton · SUNY Upstate Medical University

Stephen J. Knohl · SUNY Upstate Medical University

Paul Hueber · SUNY Upstate Medical University

Bernd Höppe · University of Cologne

János Mátyus · University of Debrecen

Topics & Keywords

Metabolism and Genetic Disorders Porphyrin Metabolism and Disorders Biochemical and Molecular Research

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: The American Journal of Human Genetics

Volume 76, Issue 2, pp. 260-267

DOI: 10.1086/427887

Field-Weighted Citation Impact: 9.30

Dent Disease with Mutations in OCRL1 | Researchclopedia

· Children's Mercy Hospital

Velibor Tasic · Children's Clinical University Hospital

Burkhard Toenshoff · Heidelberg University

Sharon F. Suchy · National Human Genome Research Institute

Robert L. Nussbaum · National Human Genome Research Institute

Steven J. Scheinman · SUNY Upstate Medical University