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在“Elsevier电子期刊”中，命中：519条，耗时：小于0.01 秒

在所有数据库中总计命中：622条

1.Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia

作者：Alan A. Parsa^a ; ^{aparsa@hawaii.edu} ; Maria I. New^b

关键词：21 hydroxylase deficiency ; Congenital adrenal hyperplasia ; CAH

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

2.Surgical outcomes and complications of reconstructive surgery in the female congenital adrenal hyperplasia patient: What every endocrinologist should know

作者：Lily C. Wang ; ^{lilywang1115@gmail.com} ; ^{lilycwangmd@gmail.com} ; Dix P. Poppas

关键词：Congenital adrenal hyperplasia ; Genital reconstruction ; Outcomes ; Complications

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

3.Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia

作者：Behzad S Khorashad^a ; ^e ; ^{sorourib2@mums.ac.ir} ; Ghasem M Roshan^a ; ^{Roshan.g2006@yahoo.com} ; Alistair G Reid^b ; ^{alistair.reid@rlbuht.nhs.uk} ; Zahra Aghili^a ; ^e ; ^{Zahra.aghili@gmail.com} ; Mehran Hiradfar^c ; ^{hiradfarm@mums.ac.ir} ; Mozhgan Afkhamizadeh^d ; ^{AfkhamizadehM@mums.ac.ir} ; Ali Talaei^a ; ^e ; ^{talaeia@mums.ac.ir} ; Azadeh Aarabi^f ; ^{aarabia1@mums.ac.ir} ; Nosrat Ghaemi^g ; ^{ghaemin@mums.ac.ir} ; Negin Taghehchian^h ; ^{n_taghehchian@yahoo.com} ; Hedieh Saberi^a ; ^{hedieh.saberi92@gmail.com} ; Nazanin Farahi^a ; ^{nazaninffrh@gmail.com} ; Mohammad Reza Abbaszadegan^f ; ^{abbaszadeganmr@mums.ac.ir}

关键词：Disorders of sexual development ; Congenital Adrenal Hyperplasia ; Complete Androgen Insensitivity Syndrome ; Sexual orientation

刊名：Journal of Psychosomatic Research

出版年：2017

4.The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort

作者：Ragini Khajuria^a ; Rama Walia^b ; Anil Bhansali^b ; Rajendra Prasad^a ; ^{fateh1977@yahoo.com}

关键词：CAH ; Congenital Adrenal Hyperplasia ; CYP21A2 ; 21-Hydroxylase gene ; SW ; salt wasting ; SV ; simple virilizing ; NC ; non classical

刊名：Clinica Chimica Acta

出版年：2017

5.Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia

作者：Katja K. Dumic^a ; ^{katja.dumic@gmail.com} ; Zorana Grubic^b ; Tony Yuen^c ; Robert C. Wilson^d ; Vesna Kusec^e ; Ingeborg Barisic^f ; Katarina Stingl^b ; Ivona Sansovic^f ; Veselin Skrabic^g ; Miroslav Dumic^h ; Maria I. New^c

关键词：21-Hydroxylase deficiency ; CYP21A2 gene ; Genotype ; Phenotype

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

6.Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males

作者：A. Khattab^a ; M. Yau^a ; A. Qamar^a ; P. Gangishetti^a ; A. Barhen^b ; S. Al-Malki^a ; H. Mistry^a ; W. Anthony^a ; M.B Toralles^c ; Maria I. New^a ; ^{maria.new@mssm.edu}

关键词：21-Hydroxylase deficiency ; Gender assignment ; 46 ; XX Males ; Disorders of sexual development ; Psychosexual development

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

7.Disorders in the initial steps of steroid hormone synthesis

作者：Walter L. Miller ; ^{wlmlab@ucsf.edu}

关键词：ABC ; ATP-binding casette ; ACAT ; acyl-CoA ; cholesterol acyltransferase ; ALLO ; allopregnanolone ; CAH ; congenital adrenal hyperplasia ; CESD ; cholesterol ester storage disease ; CoA ; coenzyme A ; CYP ; cytochrome P450 ; DSD ; Disordered sexual development ; ER ; endoplasmic reticulum ; ERMES ; endoplasmic reticulum-mitochondria encounter structure ; FAD ; flavin adenine dinucleotide ; HDL ; High density lipoprotein ; HMG-CoA ; 3-hydroxy-3-methylglutaryl co-enzyme A ; HPBCD ; hydroxypropyl-β-cyclodextrin ; IMM ; inner m

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

8.Multiplexed steroid profiling of gluco- and mineralocorticoids pathways using a liquid chromatography tandem mass spectrometry method

作者：Simon Travers^a ; ^b ; ^c ; Laetitia Martinerie^a ; ^d ; ^e ; ^f ; Claire Bouvattier^b ; ^g ; ^h ; Pascal Boileau^e ; ⁱ ; ^j ; Marc Lombè ; s^a ; ^b ; ^e ; ^k ; ^l ; Eric Pussard^a ; ^b ; ^c ; ^l ; ^{eric.pussard@bct.aphp.fr}

关键词：17OHP ; 17-hydroxyprogesterone ; 18OHB ; 18-hydroxycorticosterone ; 18OHDOC ; 18-hydroxy-11-deoxycorticosterone ; 21DF ; 21-deoxycortisol ; A ; 11-dehydrocorticosterone ; Aldo ; aldosterone ; B ; corticosterone ; CAH ; congenital adrenal hyperplasia ; D4 ; androstenedione ; DHEAS ; dehydroepiandrostenedione sulfate ; DOC ; 11-deoxycorticosterone ; E ; cortisone ; F ; cortisol ; HSD ; hydroxysteroid dehydrogenase ; LC&ndash ; MS/MS ; liquid chromatography tandem mass spectrometry ; LOD ; limit of detection ; LOQ ; limit of quantif

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

9.New developments in prenatal diagnosis of congenital adrenal hyperplasia

作者：Diya Kazmi¹ ; Jack Bailey¹ ; Maggie Yau ; Wahid Abu-Amer ; Ameet Kumar ; Merly Low ; Tony Yuen ; ^{tony.yuen@mssm.edu}

关键词：Next generation sequencing ; Targeted massively parallel sequencing ; Noninvasive prenatal testing ; NIPT ; Autosomal recessive disorders

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

10.The urinary steroidome of treated children with classic 21-hydroxylase deficiency

作者：Clemens Kamrath¹ ; Lisa Wettstaedt¹ ; Claudia Boettcher ; Michaela F. Hartmann ; Stefan A. Wudy ; MD ; PhD ; ^{stefan.wudy@uni-giessen.de}

关键词：Urine ; Steroid ; CAH ; Congenital adrenal hyperplasia ; 21-Hydroxylase deficiency

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

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