Associated Papers
Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Lu WL et al.
World Journal of Pediatrics : Wjp, 2024
Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.
Karlekar MP et al.
Clinical Endocrinology, 2021
Cytochromes p450: roles in diseases.
Pikuleva IA et al.
The Journal of Biological Chemistry, 2013
Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing.
Janzen N et al.
Hormone Research in Paediatrics, 2012
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
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