Cystinosis
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-030-93438-5_12
Reference59 articles.
1. Adelmann CH, Traunbauer AK, Chen B, Condon KJ, Chan SH, Kunchok T, et al. MFSD12 mediates the import of cysteine into melanosomes and lysosomes. Nature. 2020;588(7839):699–704.
2. Ariceta G, Lara E, Camacho JA, Oppenheimer F, Vara J, Santos F, et al. Cysteamine (Cystagon(R)) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults. Nephrol Dial Transplant. 2015;30(3):475–80.
3. Attard M, Jean G, Forestier L, Cherqui S, van’t Hoff W, Broyer M, et al. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. Hum Mol Genet. 1999;8(13):2507–14.
4. Besouw MT, Bowker R, Dutertre JP, Emma F, Gahl WA, Greco M, et al. Cysteamine toxicity in patients with cystinosis. J Pediatr. 2011;159(6):1004–11.
5. Besouw MT, Kremer JA, Janssen MC, Levtchenko EN. Fertility status in male cystinosis patients treated with cysteamine. Fertil Steril. 2010;93(6):1880–3.
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