Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele-Reference-Cited by-同舟云学术

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Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele

Published:2021 Issue:4 Volume:30 Page:187-193
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Itonaga Tomoyo¹,Akiba Kazuhisa²,Hasegawa Yukihiro¹

Affiliation:

1. Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center (TMCMC), Tokyo, Japan

2. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 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/30/4/30_2020-0088/_pdf

Reference28 articles.

1. 1. Speiser, PW, White, PC. Congenital adrenal hyperplasia. N Engl J Med 2003;349: 776–88.

2. 2. Merke, DP, Bornstein, SR. Congenital adrenal hyperplasia. Lancet 2005;365: 2125–36.

3. 3. Chiou, SH, Hu, MC, Chung, BC. A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency. J Biol Chem 1990;265: 3549–52.

4. 4. Tusie-Luna, MT, Traktman, P, White, PC. Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus. J Biol Chem 1990;265: 20916–22.

5. 5. Higashi, Y, Fujii-Kuriyama, Y. Functional analysis of mutant P450(C21) genes in COS cell expression system. Methods Enzymol 1991;206: 166–73.

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