鉴定导致先天性肾上腺增生的酶缺乏。

Acta bio-medica de L'Ateneo parmense : organo della Societa di medicina e scienze naturali di Parma Pub Date : 1995-01-01

J Sólyom

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引用次数: 0

摘要

通过血点测量17-羟孕酮选择性筛查先天性肾上腺增生症(CAH)是一种实用的选择，可以产生有价值的临床信息和更准确的发病率估计。同时调查血清和尿液类固醇可以检测晚发型CAH。

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Identification of enzyme deficiencies resulting in congenital adrenal hyperplasia.

Selective screening for congenital adrenal hyperplasia (CAH) by blood spot 17-hydroxyprogesterone measurements is a practical option than can yield valuable clinical information and more accurate estimate of incidence. Simultaneous investigation of serum and urinary steroids allows detection of late-onset types of CAH.

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Acta bio-medica de L'Ateneo parmense : organo della Societa di medicina e scienze naturali di Parma

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