Results 141 to 150 of about 3,344 (169)

Nephropathic cystinosis: late complications of a multisystemic disease

Pediatric Nephrology, 2008
Galina Nesterova
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: the evolution of a treatable disease

Pediatric Nephrology, 2012
William Gahl, Galina Nesterova, Gahl William A   +2 more
exaly  

Craniofacial and dental findings in cystinosis

Oral Diseases, 2010
William Gahl, T C Hart
exaly  

Cystinosis

2011
openaire   +2 more sources

Recurrent Ischemic Stroke in an Adult with Cystinosis: A Clinical–Pathological Case

Journal of Stroke and Cerebrovascular Diseases, 2013
Ruth Geraldes, JOSÉ Pimentel, Antonio Gomes da Costa   +2 more
exaly  

CTNS Mutations in an American-Based Population of Cystinosis Patients

American Journal of Human Genetics, 1998
Vorasuk Shotelersuk, William Gahl, Yair Anikster   +2 more
exaly  

Identification of 14 novelCTNS mutations and characterization of seven splice site mutations associated with cystinosis

Human Mutation, 2002
Vasiliki Kalatzis, Pierre Cochat
exaly  

[Cystinosis].

L'union medicale du Canada, 1969
J, Chagnon, J, Belley
openaire   +1 more source

Pharmacological treatment of nephropathic cystinosis with cysteamine

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