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type 1 familial glucocorticoid deficiency (FGD type 1)相关文献:
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
PMID:
A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency.
Mohammed I, Haris B, Hussain K.
J Endocr Soc. 2022 Apr 8;6(6):bvac058. doi: 10.1210/jendso/bvac058. eCollection 2022 Jun 1.
PMID:35506146
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung TT, Chan LF, Metherell LA, Clark AJ.
Clin Endocrinol (Oxf). 2010 May;72(5):589-94. doi: 10.1111/j.1365-2265.2009.03663.x. Epub 2009 Jun 24.
PMID:19558534
Familial glucocorticoid deficiency: New genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJ, Metherell LA.
Mol Cell Endocrinol. 2013 May 22;371(1-2):195-200. doi: 10.1016/j.mce.2012.12.010. Epub 2012 Dec 29.
PMID:23279877
Adrenocorticotropin resistance syndromes.
Cooray SN, Chan L, Metherell L, Storr H, Clark AJL.
Endocr Dev. 2008;13:99-116. doi: 10.1159/000134828.
PMID:18493136
ACTH Action on the Adrenals.
Angelousi A, Margioris AN, Tsatsanis C.
2020 Jun 13. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, New M, Purnell J, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.
PMID:25905342
Familial glucocorticoid deficiency type 2: a case report.
Akın L, Kurtoğlu S, Kendirici M, Akın MA.
J Clin Res Pediatr Endocrinol. 2010;2(3):122-5. doi: 10.4274/jcrpe.v2i3.122. Epub 2010 Aug 6.
PMID:21274326
Establishment of human induced pluripotent stem cell line SDQLCHi029-A from one Type 1 familial glucocorticoid deficiency patient carrying compound heterozygote mutations in MC2R gene.
Zhang H, Liu C, Liu Y, Gai Z.
Stem Cell Res. 2024 Apr;76:103368. doi: 10.1016/j.scr.2024.103368. Epub 2024 Feb 27.
PMID:38430736
Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.
Habeb AM, Hughes CR, Al-Arabi R, Al-Muhamadi A, Clark AJ, Metherell LA.
Eur J Pediatr. 2013 Oct;172(10):1407-10. doi: 10.1007/s00431-013-2044-1. Epub 2013 May 26.
PMID:23708259
A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency.
Özbek MN, Demiral M, Unal E, Karaşin ND, Baran RT, Demirbilek H.
J Pediatr Endocrinol Metab. 2021 Jul 19;34(11):1463-1468. doi: 10.1515/jpem-2021-0150. Print 2021 Nov 25.
PMID:34271604
Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report.
Chen C, Zhou R, Fang Y, Jiang L, Liang L, Wang C.
Mol Genet Metab Rep. 2016 Sep 10;9:15-7. doi: 10.1016/j.ymgmr.2016.09.003. eCollection 2016 Dec.
PMID:27660747
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