التفاصيل البيبلوغرافية
| العنوان: |
Congenital adrenal hyperplasia--a continuum of disorders. |
| المؤلفون: |
Hughes, Ieuan A., Hughes, I A1 (AUTHOR) |
| المصدر: |
Lancet. 9/5/1998, Vol. 352 Issue 9130, p752-754. 3p. 1 Chart. |
| مصطلحات موضوعية: |
ADRENOGENITAL syndrome, ADRENAL diseases, GENETIC mutation, HYDROCORTISONE, ENZYMES, HEALTH |
| مستخلص: |
Comments on congenital adrenal hyperplasia (CAH), disorders due to deficiency of enzymes needed for the adrenal biosynthesis of cortisol from cholesterol. Causes of CAH; The gene encoding the enzyme being CYP21; Incidence of CAH; Diversity in time of onset and clinical presentation; The malformation in girls being treated before birth; The question of CYP21 gene mutation predicting the disease expression; Compound heterozygosity as a mutation spectrum feature; CAH disease continuum and prognosis. |
| قاعدة البيانات: |
Business Source Index |
