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Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty.
J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):175-184. doi: 10.1515/jpem-2017-0123.
J Pediatr Endocrinol Metab. 2018.
PMID: 29353264
Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR.
Topaloglu AK, et al. Among authors: papatya ed.
J Clin Endocrinol Metab. 2014 Oct;99(10):E2067-75. doi: 10.1210/jc.2014-1836. Epub 2014 Jul 17.
J Clin Endocrinol Metab. 2014.
PMID: 25033069
Free PMC article.
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