Results 171 to 180 of about 5,039 (197)

Nephropathic cystinosis: late complications of a multisystemic disease

Pediatric Nephrology, 2008
William A Gahl, Galina Nesterova
exaly  

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

EMBO Journal, 2001
Vasiliki Kalatzis, Corinne Antignac, Stephanie Cherqui   +2 more
exaly  

Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience

Diagnostics, 2020
Wojciech Załuska, Mario Damiano Toro, Caterina Gagliano   +2 more
exaly  

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

Human Molecular Genetics, 1999
Corinne Antignac, Stephanie Cherqui, William van't Hoff   +2 more
exaly  

Cystinosis

2011
openaire   +2 more sources

Pharmacological treatment of nephropathic cystinosis with cysteamine

Expert Opinion on Pharmacotherapy, 2004
Robert Kleta, William A Gahl
exaly  

Craniofacial and dental findings in cystinosis

Oral Diseases, 2010
William A Gahl, Cw Bassim, T C Hart
exaly  

Cystinosis

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

Cystinosis: the evolution of a treatable disease

Pediatric Nephrology, 2012
William A Gahl, Galina Nesterova
exaly  

Cystinosis

2016
Elena Levtchenko, Leo Monnens
openaire   +2 more sources