Speiser Phyllis W
Department of Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra-Northwell, Hempstead, NY 11549, USA.
Cohen Children's Medical Center of New York, New Hyde Park, NY 11040, USA.
Children (Basel). 2025 Jul 8;12(7):898. doi: 10.3390/children12070898.
CAH represents a prototypical enzyme deficiency disorder, most commonly affecting steroid 21-hydroxylase, in which the critical adrenal pathway from cholesterol to cortisol is blocked [...].
先天性肾上腺皮质增生症是一种典型的酶缺乏症,最常见的是影响类固醇21-羟化酶,其中从胆固醇到皮质醇的关键肾上腺途径被阻断[...]。