Results 221 to 230 of about 7,764 (252)

Cystinosis

2011
openaire   +2 more sources

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

Kidney International, 2012
Chris Ottolenghi, Pierre Cochat
exaly  

Nephropathic cystinosis: an international consensus document

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

Cystinosis

American Journal of Ophthalmology, 1972
J. François, M. Hanssens, R. Coppieters, L. Evens   +3 more
openaire   +1 more source

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  

Cystinosis

2005
openaire   +2 more sources