Results 141 to 150 of about 3,347 (164)

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

2011
openaire   +2 more sources

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  

Academic achievement in individuals with infantile nephropathic cystinosis

1997
D A Trauner
exaly  

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

Journal of Stroke and Cerebrovascular Diseases, 2013
Ruth Geraldes, TERESA Pinho E Melo, JOSÉ Pimentel   +2 more
exaly  

[Cystinosis].

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

Ocular changes in long-term evolution of infantile cystinosis

Ophthalmic Paediatrics and Genetics, 1987
M C Gubler, M F Gagnadoux, J L Dufier
exaly  

[Cystinosis].

Harefuah, 1998
S, KUWEITY, C, TRIPHUS
openaire   +1 more source

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  

Global intellectual deficits in cystinosis

American Journal of Medical Genetics Part A, 1994
D A Trauner, B L Williams
exaly