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Mutations of CTNS causing intermediate cystinosis.
Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT. Thoene J, et al. Among authors: schneider j. Mol Genet Metab. 1999 Aug;67(4):283-93. doi: 10.1006/mgme.1999.2876. Mol Genet Metab. 1999. PMID: 10444339
CTNS mutations in African American patients with cystinosis.
Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA. Kleta R, et al. Among authors: schneider j. Mol Genet Metab. 2001 Nov;74(3):332-7. doi: 10.1006/mgme.2001.3218. Mol Genet Metab. 2001. PMID: 11708862
Cystinosis.
Gahl WA, Thoene JG, Schneider JA. Gahl WA, et al. N Engl J Med. 2002 Jul 11;347(2):111-21. doi: 10.1056/NEJMra020552. N Engl J Med. 2002. PMID: 12110740 Review. No abstract available.
Recent advances in the treatment of cystinosis.
Schneider JA, Clark KF, Greene AA, Reisch JS, Markello TC, Gahl WA, Thoene JG, Noonan PK, Berry KA. Schneider JA, et al. J Inherit Metab Dis. 1995;18(4):387-97. doi: 10.1007/BF00710051. J Inherit Metab Dis. 1995. PMID: 7494398 Free article. Review.
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA. Anikster Y, et al. Among authors: schneider ja. Pediatr Res. 2000 Jan;47(1):17-23. doi: 10.1203/00006450-200001000-00007. Pediatr Res. 2000. PMID: 10625078
Course of nephropathic cystinosis after age 10 years.
Gahl WA, Schneider JA, Thoene JG, Chesney R. Gahl WA, et al. Among authors: schneider ja. J Pediatr. 1986 Oct;109(4):605-8. doi: 10.1016/s0022-3476(86)80221-9. J Pediatr. 1986. PMID: 3531450
NIH conference. Cystinosis: progress in a prototypic disease.
Gahl WA, Thoene JG, Schneider JA, O'Regan S, Kaiser-Kupfer MI, Kuwabara T. Gahl WA, et al. Among authors: schneider ja. Ann Intern Med. 1988 Oct 1;109(7):557-69. doi: 10.7326/0003-4819-109-7-557. Ann Intern Med. 1988. PMID: 3048161 Review.
Renal failure in a sibship with late-onset cystinosis.
Langman CB, Moore ES, Thoene JG, Schneider JA. Langman CB, et al. Among authors: schneider ja. J Pediatr. 1985 Nov;107(5):755-6. doi: 10.1016/s0022-3476(85)80410-8. J Pediatr. 1985. PMID: 4056976 No abstract available.
7,096 results