Results 111 to 120 of about 1,339 (134)

Nephropathic cystinosis: an international consensus document

Nephrology Dialysis Transplantation, 2014
Stephanie Cherqui, Rezan Topaloglu, Ewa Elenberg   +2 more
exaly  

Posterior segment involvement in Infantile Nephropathic Cystinosis – A review

, 2023
Leonie Keidel, Benedikt Schworm, Katharina Hohenfellner, Franziska Kruse, Siegfried Priglinger, Nikolaus Luft, Claudia Priglinger   +6 more
openalex   +1 more source

Ocular Complications of Infantile Nephropathic Cystinosis

Jornal de Pediatria, 2017
R. Bishop
semanticscholar   +1 more source

Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

EMBO Molecular Medicine, 2015
Gennaro Napolitano, Jing He, Celine J Rocca   +2 more
exaly  

Hematopoietic Stem Cell Gene Therapy for the Multisystemic Lysosomal Storage Disorder Cystinosis

Molecular Therapy, 2013
Celine J Rocca, Donald B Kohn, Stephanie Cherqui   +2 more
exaly  

Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter

EMBO Journal, 2001
Vasiliki Kalatzis, Bruno Gasnier
exaly  

Cysteamine therapy: a treatment for cystinosis, not a cure

Kidney International, 2012
Stephanie Cherqui
exaly  

Bone and Mineral Metabolism in Children with Nephropathic Cystinosis Compared with other CKD Entities

Journal of Clinical Endocrinology and Metabolism, 2020
Maren Leifheit-Nestler, Katharina Hohenfellner, Jun Oh   +2 more
exaly  

Management of bone disease in cystinosis: Statement from an international conference

Journal of Inherited Metabolic Disease, 2019
Katharina Hohenfellner, Frank Rauch, Justine Bacchetta   +2 more
exaly  

Effects of long-term cysteamine treatment in patients with cystinosis

Pediatric Nephrology, 2017
Gema Ariceta, Fernando Santos
exaly