Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Author:
Affiliation:
1. Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
2. Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Publisher
Korean Society of Pediatric Endocrinology
Subject
Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Link
http://e-apem.org/upload/pdf/apem-21-1.pdf
Reference47 articles.
1. Congenital Adrenal Hyperplasia
2. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
3. An Update of Congenital Adrenal Hyperplasia
4. Biochemical and genetic diagnosis of 21-hydroxylase deficiency
5. Clinical outcomes in the management of congenital adrenal hyperplasia
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1. A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency;The Journal of Clinical Endocrinology & Metabolism;2023-10-06
2. Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population;Advances in Laboratory Medicine / Avances en Medicina de Laboratorio;2023-08-25
3. Caracterización molecular de la nueva entidad clínica relacionada con la hiperplasia suprarrenal congénita, síndrome CAH-X en población española;Advances in Laboratory Medicine / Avances en Medicina de Laboratorio;2023-07-04
4. Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome;Annals of Pediatric Endocrinology & Metabolism;2023-06-30
5. Comprehensive Overview of Congenital Adrenal Hyperplasia and its Genetic Diagnosis Among Children and Adolescents;Journal of Pediatric Endocrinology and Diabetes;2023-04-11
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