Lessons from 17β-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients-Reference-Cited by-同舟云学术

Lessons from 17β-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients

Published:2023-01 Issue: Volume:225 Page:106191
ISSN:0960-0760
Container-title:The Journal of Steroid Biochemistry and Molecular Biology
language:en
Short-container-title:The Journal of Steroid Biochemistry and Molecular Biology

Author:

Zhu Hui,Yao Haijun,Liu Xuemeng,Xu Yue,Liu Yang,Luo Qingqiong,Chen Yan,Shi Yuanping,Chen Fuxiang,Zhao Shuangxia,Song Huaidong,Han Bing,Qiao Jie

Publisher

Elsevier BV

Subject

Cell Biology,Clinical Biochemistry,Endocrinology,Molecular Biology,Molecular Medicine,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference41 articles.

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3. Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population;Röhle;BMC Endocr. Disord.,2017

4. 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population;Rosler;Pediatr. Endocrinol. Rev.: PER,2006

5. A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females;Rösler;J. Clin. Endocrinol. Metab.,1996

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1. Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis;The Journal of Steroid Biochemistry and Molecular Biology;2023-11