The clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s12020-022-03206-5.pdf
Reference33 articles.
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2. J. Allgrove, G.S. Clayden, J.C. Macaulay, Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 311, 1284–1286 (1978). https://doi.org/10.1016/S0140-6736(78)91268-0
3. K. Handschug, S. Sperling, S.J. Yoon, S. Hennig, A.J. Clark, A. Huebner, Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum. Mol. Genet 10, 283–290 (2001). https://doi.org/10.1093/hmg/10.3.283
4. J.M. Cronshaw, A.N. Krutchinsky, W. Zhang, B.T. Chait, M.J. Matunis, Proteomic analysis of the mammalian nuclear pore complex. J. Cell Biol. 158, 915–927 (2002). https://doi.org/10.1083/jcb.200206106
5. R. Prasad, L.A. Metherell, A.J. Clark, H.L. Storr, Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis. Endocrinology 154, 3209–3218 (2013). https://doi.org/10.1210/en.2013-1241
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