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The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency.
J Clin Endocrinol Metab. 2022 Nov 25;107(12):3341-3352. doi: 10.1210/clinem/dgac521.
J Clin Endocrinol Metab. 2022.
PMID: 36071550
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
Adachi E, Nakagawa R, Tsuji-Hosokawa A, Gau M, Kirino S, Yogi A, Nakatani H, Takasawa K, Yamaguchi T, Kosho T, Murakami M, Tajima T, Hasegawa T, Yamada T, Morio T, Ohara O, Kashimada K.
Adachi E, et al.
J Clin Endocrinol Metab. 2024 Feb 20;109(3):750-760. doi: 10.1210/clinem/dgad577.
J Clin Endocrinol Metab. 2024.
PMID: 37804107
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