Congenital adrenal hypoplasia and glycerol kinase deficiency.
作者信息
Oleesky D A, Hakeem V
机构信息
Department of Biochemistry, Royal Gwent Hospital, Wales, United Kingdom.
出版信息
Acta Paediatr Scand. 1989 Nov;78(6):893-5. doi: 10.1111/j.1651-2227.1989.tb11170.x.
Abstract
An unusual case of salt-wasting in a male infant is reported. The cause was a small X-chromosomal deletion within Xp21 resulting in the syndrome of congenital adrenal hypoplasia with glycerol kinase deficiency. This syndrome can readily be diagnosed by routine biochemical tests.
摘要
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