Results 171 to 180 of about 4,878 (206)

Cystinosis

1958
openaire   +2 more sources

Cystinosis

2021
Elena Levtchenko, William A. Gahl, Francesco Emma   +2 more
openaire   +1 more source

Vitamin D repletion ameliorates adipose tissue browning and muscle wasting in infantile nephropathic cystinosis‐associated cachexia

Journal of Cachexia, Sarcopenia and Muscle, 2020
Wei Ding, Ping Zhou, Shiping Li
exaly  

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives

Nature Reviews Nephrology, 2016
Stephanie Cherqui
exaly  

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