Detection of the heterozygous state in siblings of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
作者信息
Gutai J P, Lee P A, Johnsonbaugh R E, Gareis F, Urban M D, Migeon C J
出版信息
J Pediatr. 1979 May;94(5):770-2. doi: 10.1016/s0022-3476(79)80152-3.
PMID:221633
Abstract
摘要
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Detection of the heterozygous state in siblings of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.检测因21-羟化酶缺乏所致先天性肾上腺皮质增生症患者同胞中的杂合子状态。
J Pediatr. 1979 May;94(5):770-2. doi: 10.1016/s0022-3476(79)80152-3.
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"Acquired" adrenal hyperplasia with 21-hydroxylase deficiency is not the same genetic disorders as congenital adrenal hyperplasia.伴有21-羟化酶缺乏的“获得性”肾上腺增生与先天性肾上腺增生并非同一遗传疾病。
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Late onset adrenal hyperplasia (21-hydroxylase deficiency): 17-OH progesterone response to ACTH stimulation and HLA typing. A family study.迟发性肾上腺增生（21-羟化酶缺乏症）：17-羟孕酮对促肾上腺皮质激素刺激的反应及人类白细胞抗原分型。一项家系研究。
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An attenuated form of congenital virilizing adrenal hyperplasia.先天性男性化肾上腺增生的一种减毒形式。
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Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone.通过血清17-羟孕酮放射免疫测定法鉴定先天性肾上腺皮质增生症的杂合子携带者。
J Pediatr. 1977 Jun;90(6):930-3. doi: 10.1016/s0022-3476(77)80561-1.
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Partial adrenocortical hydroxylase deficiency syndrome in infertile women.不孕女性的部分肾上腺皮质羟化酶缺乏综合征
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The detection of the heterozygous carrier for congenital virilizing adrenal hyperplasia.先天性男性化肾上腺皮质增生杂合子携带者的检测
J Pediatr. 1977 Jun;90(6):924-9. doi: 10.1016/s0022-3476(77)80560-x.
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No linkage between HLA and congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency.HLA与11-β-羟化酶缺乏所致先天性肾上腺皮质增生症之间无连锁关系。
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Plasma steroids in congenital adrenal hyperplasia.先天性肾上腺皮质增生症中的血浆类固醇
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Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia.先天性肾上腺皮质增生症杂合子携带者中部分21-羟化酶缺乏的证据。
J Clin Endocrinol Metab. 1975 Aug;41(2):415-8. doi: 10.1210/jcem-41-2-415.
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