Cystinosis
Author:
Publisher
Springer US
Link
http://link.springer.com/content/pdf/10.1007/978-0-387-70909-3_32.pdf
Reference100 articles.
1. Abderhalden, E., 1903, Familiäre Cystindiathese, Hoppe Seylers Zeitschr. f. physiol. Chemie. 38:557-561.
2. Andrews, P. A., Sacks, S. H., and Van’t Hoff, W., 1994, Successful pregnancy in cystinosis, JAMA 272:1327-1328.
3. Anikster, Y., Lacbawan, F., Brantly, M., Gochuico, B. L., Avila, N. A., Travis, W., and Gahl, W. A., 2001, Pulmonary dysfunction in adults with nephropathic cystinosis, Chest. 119:394-401.
4. Anikster, Y., Lucero, C., Guo, J., Huizing, M., Shotelersuk, V., Bernardini, I., McDowell, G., Iwata, F., Kaiser-Kupfer, M. I., Jaffe, R., Thoene, J., Schneider, J. A., and Gahl, W. A., 2000, Ocular nonnephropathic cystinosis: Clinical, biochemical, and molecular correlations, Pediatr. Res. 47:17-23.
5. Anikster, Y., Lucero, C., Touchman, J. W., Huizing, M., McDowell, G., Shotelersuk, V., Green, E. D., and Gahl, W. A., 1999, Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS), Mol. Genet. Metab. 66:111-116.
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