Results 131 to 140 of about 3,345 (168)

Cystinosis — A Review

Scottish Medical Journal, 1975
openaire   +2 more sources

Nephropathic cystinosis: an international consensus document

Nephrology Dialysis Transplantation, 2014
Elke Wuhl, William Gahl, Paul Goodyer
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  

Cystinosis.

Archives of Pediatrics & Adolescent Medicine, 1974
openaire   +2 more sources

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature

Survey of Ophthalmology, 2007
Chi-Chao Chan, Pamela Sieving, Ekaterini Tsilou   +2 more
exaly  

CTNS mutations in patients with cystinosis

Human Mutation, 1999
Vorasuk Shotelersuk, William Gahl, Yair Anikster   +2 more
exaly  

Pregnancy in women with cystinosis

CKJ: Clinical Kidney Journal, 2019
Ellen Knox
exaly  

Cystinosis

The American Journal of Medicine, 1968
John C. Crawhall, Paul S. Lietman, Jerry A. Schneider, J.Edwin Seegmiller   +3 more
openaire   +1 more source

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

Journal of Inherited Metabolic Disease, 2019
Fernando Santos, Justine Bacchetta, Koenraad Veys   +2 more
exaly  

Nephropathic cystinosis: late complications of a multisystemic disease

Pediatric Nephrology, 2008
Galina Nesterova
exaly