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The patient with combined deficiency of neuraminidase and 21-hydroxylase

✍ Scribed by F. Harada; Y. Nishimura; K. Suzuki; H. Matsumoto; T. Oohira; I. Matsuda; T. Sasazuki


Publisher
Springer
Year
1987
Tongue
English
Weight
251 KB
Volume
75
Category
Article
ISSN
0340-6717

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## Abstract Steroid 21‐hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia (CAH), an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17‐hydroxyp