Neonatal mass screening for 21-hydroxylase deficiency
Author:
Affiliation:
1. Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
2. Present: Jichi Children’s Medical Center Tochigi, Shimotsuke, Japan
3. Sapporo IDL, Sapporo, Japan
Publisher
Japanese Society for Pediatric Endocrinology
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Link
https://www.jstage.jst.go.jp/article/cpe/25/1/25_2015-0012/_pdf
Reference40 articles.
1. 1. White, PC, Speiser, PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21: 245–91.
2. 2. Merke, DP, Bornstein, SR. Congenital adrenal hyperplasia. Lancet 2005;365: 2125–36.
3. 3. Speiser, PW, Azziz, R, Baskin, LS, Ghizzoni, L, Hensle, TW, Merke, DP, et al. Endocrine SocietyCongenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010;95: 4133–60.
4. 4. Tajima, T, Fujieda, K, Nakae, J, Toyoura, T, Shimozawa, K, Kusuda, S, et al. Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan. J Clin Endocrinol Metab 1997;82: 2350–6.
5. 5. Ishii, T, Anzo, M, Adachi, M, Onigata, K, Kusuda, S, Nagasaki, K, et al. Guidelines for Diagnosis and treatment of 21-hydroxylase deficiency (2014 revision). Clin Pediatr Endocrinol 2015;24: 77–105.
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2. Steroid profile in dried blood spots by liquid chromatography tandem mass spectrometry: Application to newborn screening for congenital adrenal hyperplasia in China;Steroids;2022-09
3. Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision);CLIN PEDIATR ENDOCRI;2022
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