Journal of rare diseases (Berlin, Germany)

GLP-1 receptor agonists-another promising therapy for Alport syndrome?

Pub Date : 2025-01-01 DOI: 10.1007/s44162-024-00065-8 Jan Boeckhaus, Holly Mabillard, John A Sayer

Late onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygous CYP24A1 pathogenic variant.

Pub Date : 2025-01-01 DOI: 10.1007/s44162-025-00116-8 Marwa Abouzeina, Paul Mead, Rhema Okpongete, Holly Mabillard, Robert Geraghty, John A Sayer

Disruption of Lrpprc affects B cell development and proliferation in a mouse model of Leigh Syndrome French Canadian type.

Pub Date : 2025-01-01 DOI: 10.1007/s44162-025-00094-x Adrien Fois, Sonia Deschênes, Capucine Bourel, Claudine Beauchamp, Félix Lombard-Vadnais, Matthieu Ruiz, Guy Charron, Lise Coderre, John D Rioux, Sylvie Lesage