Results 191 to 200 of about 5,436 (204)

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

Kidney International, 2012
Chris Ottolenghi, Pierre Cochat
exaly  

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  

Cystinosis: practical tools for diagnosis and treatment

Pediatric Nephrology, 2010
Martijn J Wilmer, Elena Levtchenko
exaly  

Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis

Journal of Cachexia, Sarcopenia and Muscle, 2016
Wei Ding, Ping Zhou, Richard L Lieber
exaly