Results 141 to 150 of about 93,897 (194)

4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1. [PDF]

Int J Mol Sci
Perdomo-Ramírez A, Ramos-Trujillo E, Machado JD, García-Nieto V, Mura-Escorche G, Claverie-Martin F, RenalTube Group.   +6 more
europepmc   +1 more source

Bone marrow transplantation improves proximal tubule dysfunction in a mouse model of Dent disease.

Kidney International, 2017
Sarah S. Gabriel, Hendrica Belge, A. Gassama, H. Debaix, A. Luciani, T. Fehr, O. Devuyst   +6 more
semanticscholar   +1 more source

A case of Type 1 Dent disease presenting with isolated persistent proteinuria. [PDF]

Turk Pediatri Ars, 2020
Güngör T, Eroğlu FK, Yazılıtaş F, Gür G, Çakıcı EK, Ludwig M, Bülbül M.   +6 more
europepmc   +1 more source

Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2

Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2
Background Dent disease is associated with low molecular weight proteinuria and hypercalciuria and caused by pathogenic variants in either of two genes: CLCN5(Dent disease 1) and OCRL(Dent disease 2). It is generally not accompanied by extrarenal manifestations and it is difficult to distinguish Dent disease 1 from Dent disease 2 without gene testing ...
openaire  

Glomerular Pathology in Dent Disease and Its Association with Kidney Function.

American Society of Nephrology. Clinical Journal, 2016
Xiangling Wang, F. Anglani, Lada Beara-Lasic, A. Mehta, Lisa E. Vaughan, Loren P. Herrera hernandez, A. Cogal, S. Scheinman, G. Ariceta, R. Isom, Lawrence Copelovitch, F. Enders, D. Del Prete, G. Vezzoli, F. Paglialonga, P. Harris, J. Lieske   +16 more
semanticscholar   +1 more source

Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study

Orphanet Journal of Rare Diseases
DA Weinstein, RJ Jackson, EA Brennan, M Williams, JE Davison, F de Boer, TGJ Derks, C Ellerton, B Faragher, J Gribben, P Labrune, KM McKittrick, E Murphy, KM Ross, U Steuerwald, C Voillot, AJM Woodward, HR Mundy   +17 more
doaj   +1 more source

Dent′s disease and lowe′s syndrome: A phenotypic spectrum of one gene

Saudi Journal of Kidney Diseases and Transplantation, 2010
Gupta Ankur, Bhowmik Dipankar, Khaira Ambar, Singh Bakshish, Tiwari Suresh   +4 more
doaj  

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Update on Dent Disease

Pediatric Clinics of North America, 2019
Dent disease is an X-linked form of chronic kidney disease characterized by hypercalciuria, low molecular weight proteinuria, nephrocalcinosis, and proximal tubular dysfunction. Clinical presentation is highly variable. Male patients may present with early-onset rickets, recurrent nephrolithiasis, or insidiously with asymptomatic proteinuria or chronic
Abdulla M, Ehlayel, Lawrence, Copelovitch   +1 more
openaire   +3 more sources

Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents.

International Journal of Biological Macromolecules, 2023
Dent disease is a rare renal tubular disease with X-linked recessive inheritance characterized by low molecular weight proteinuria (LMWP), hypercalciuria, and nephrocalcinosis. Mutations disrupting the 2Cl-/1H+ exchange activity of chloride voltage-gated
Yan Wang, Lizhen Xu, Ying Zhang, Haidong Fu, Langping Gao, Yuelin Guan, Weizhong Gu, Jing Sun, Xiangjun Chen, Fan Yang, Enyin Lai, Jingjing Wang, Yanyan Jin, Ziqi Kou, Xingyu Qiu, Jianhua Mao, Lidan Hu   +16 more
semanticscholar   +1 more source