Marinkovic-Ilsen A, Wolthers B G, Jansen G, de Bruijn H W, van der Loos C
Pediatr Dermatol. 1985 Nov;3(1):59-64. doi: 10.1111/j.1525-1470.1985.tb00488.x.
Children and adults with recessive X-linked ichthyosis have elevated levels of cholesterol sulfate, a substrate of the deficient enzyme microsomal sulfatase, in blood, erythrocyte membrane, and ichthyotic scale. We investigated cholesterol sulfate levels in patients with microsomal sulfatase deficiency before birth in amniotic fluid and in maternal plasma and erythrocytes, in cord blood (plasma and erythrocytes), and in plasma in the first month of life before and after onset of skin symptoms. Levels in amniotic fluid and cord blood were elevated. The plasma levels in the first month, before as well as after onset of skin symptoms, were within the range found in older patients with manifest skin symptoms.
患有隐性X连锁鱼鳞病的儿童和成人，其血液、红细胞膜及鱼鳞病鳞屑中硫酸胆固醇水平升高，硫酸胆固醇是缺乏的微粒体硫酸酯酶的一种底物。我们研究了微粒体硫酸酯酶缺乏症患者在出生前羊水、母体血浆和红细胞、脐带血（血浆和红细胞）以及出生后第一个月皮肤症状出现前后血浆中的硫酸胆固醇水平。羊水和脐带血中的水平升高。出生后第一个月，无论皮肤症状出现前后，血浆水平都在有明显皮肤症状的年长患者的范围内。
