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MON-066 17B-hydroxysteroid dehydrogenase Type 3 Deficiency: An Under-Recognized Cause of 46XY DSD in the United States?

机译：MON-066 17B-羟类脱氢酶3型缺乏：在美国的公认原因46XY DSD在美国？

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Title: 17β-hydroxysteroid dehydrogenase type 3 deficiency: An under-recognized cause of 46,XY DSD in the United States?

机译：标题：17β-羟类脱氢酶3型缺乏：在美国的公认事业46，XY DSD在美国？

著录项

期刊名称 Journal of the Endocrine Society
作者
J Whitehead; Elizabeth Yerkes; Emilie Johnson; Diane Chen; Allison Goetsch; Elizabeth Leeth; Courtney Anne Finlayson;
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作者单位

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年(卷),期 2020(4),Suppl 1
年度 2020
页码 MON-066
总页数 1
原文格式 PDF
正文语种
中图分类基础医学;
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专利

1. Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic [J] . Marta Berra, Emma L Williams, Barbara Muroni, European journal of endocrinology . 2011,第6期

机译：在成年女性46XY DSD诊所识别5α-还原酶2缺乏症
2. Adrenarche unmasks compound heterozygous 3 beta-hydroxysteroid dehydrogenase deficiency: c.244G > A (p. Ala82Thr) and the novel 931C > T (p.Gln311*) variant in a non-salt wasting, severely undervirilised 46XY [J] . Teasdale Stephanie Louise, Morton Adam Journal of pediatric endocrinology & metabolism: JPEM . 2017,第3期

机译：副肾上腺化合物杂合3β-羟类脱氢酶缺乏：C.244g> A（p.AlA82Th）和新型931C> T（P.GlN311 *）变体，在非盐浪费中，严重抑制46xy。
3. 46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5α-Reductase-2 Deficiency, or 17β-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes [J] . Amy B. Wisniewski, *, Tom Mazur International journal of pediatric endocrinology . 2009,第3期

机译：由于雄激素不敏感综合征，5α-还原酶2缺乏症或17β-羟基类固醇脱氢酶缺乏症而出生时女性或歧义性外生殖器的46，XY DSD：生活质量评估
4. Mutation typing in patients with medium chainAcylCoA dehydrogenase deficiency (MCADD) andPCR based mutation screening in SIDS victims [C] . D. Krause, K. Jachau, K. Mohnike, International Society for Forensic Genetics . 2006

机译：中链酰基乙酰脱氢酶缺乏症（MCADD）突变筛查患者的突变敏感筛选
5. Estrogen and androgen discrimination by human 17beta-hydroxysteroid dehydrogenase type 1 and a conserved cofactor binding mode in the short-chain dehydrogenase/reductase family. [D] . Shi, Rong. 2004

机译：在短链脱氢酶/还原酶家族中，人1型17β-羟基类固醇脱氢酶和保守的辅因子结合模式对雌激素和雄激素的区分。
6. 46XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome 5α-Reductase-2 Deficiency or 17β-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes [O] . Amy B. Wisniewski, Tom Mazur 2009

机译：由于雄激素不敏感综合征5α-还原酶2缺乏症或17β-羟基类固醇脱氢酶缺乏症而出生时女性或歧义性外生殖器的46XY DSD：生活质量评估
7. Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic [O] . Marta Berra, Emma L Williams, Barbara Muroni, 2011

机译：识别成人女性46xy DSD诊所的5α-还原酶-2缺乏

MON-066 17B-hydroxysteroid dehydrogenase Type 3 Deficiency: An Under-Recognized Cause of 46XY DSD in the United States?

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