First Trimester Prenatal Diagnosis of Wolman Disease
Wolman disease (WD; McKusick 27800) is a rare metabolic disorder with autosomal recessive inheritance. Pathologically, it is characterized by intracellular triglyceride and cholesteryl ester storage caused by absence of lysosomal acid lipase activity. This deficiency has been demonstrated in a variety of tissues from patients affected by WD, including liver, spleen, cultured skin fibroblasts and amniotic fluid cells (Patrick and Lake, 1973; Cortner et al., 1976; Kryiakides et al., 1972), but only recently, in a few cases, in chorionic villi (Gatti et al., 1988).
KeywordsChorionic Villus Autosomal Recessive Inheritance Culture Skin Fibroblast Cholesteryl Oleate Amniotic Fluid Cell
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