Expanding genetic spectrum and discriminatory role of steroid profiling by LC‐MS/MS in 11β‐hydroxylase deficiency-Reference-Cited by-同舟云学术

Expanding genetic spectrum and discriminatory role of steroid profiling by LC‐MS/MS in 11β‐hydroxylase deficiency

Published:2020-12-04 Issue:4 Volume:94 Page:533-543
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Karlekar Manjiri Pramod¹,Sarathi Vijaya²,Lila Anurag¹^ORCID,Rai Khushnandan³,Arya Sneha¹,Bhandare Vishwambhar Vishnu³,Atluri Sridevi²,Patil Virendra¹,Ramteke‐Jadhav Swati¹,Shah Nalini S.¹,Kunwar Ambarish³,Bandgar Tushar¹^ORCID

Affiliation:

1. Department of Endocrinology Seth G S Medical College & KEM Hospital Mumbai India

2. Department of Endocrinology Vydehi Institute of Medical Sciences and Research Centre Bangalore India

3. Department of Biosciences and Bioengineering Indian Institute of Technology Bombay Mumbai India

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cen.14376

Reference37 articles.

1. Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

2. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

3. The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders

4. Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene

5. A Diagnosis Not to Be Missed: Nonclassic Steroid 11β-Hydroxylase Deficiency Presenting With Premature Adrenarche and Hirsutism

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