Results 201 to 210 of about 6,860 (229)

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
Genevieve Jean, Stephanie Cherqui, William Van'T Hoff   +2 more
exaly  

Cystinosis: the evolution of a treatable disease

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

Craniofacial and dental findings in cystinosis

Oral Diseases, 2010
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, Antonio Gomes da Costa, JOSÉ Pimentel   +2 more
exaly  

CTNS Mutations in an American-Based Population of Cystinosis Patients

American Journal of Human Genetics, 1998
Vorasuk Shotelersuk, Yair Anikster, Isa Bernardini   +2 more
exaly  

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

Human Mutation, 2002
Vasiliki Kalatzis, Lola Cohen-Solal, Yaacov Frishberg   +2 more
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 A Gahl
exaly