47129

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Parenteral plant sterols and intestinal failure-associated liver disease in neonates.

Annika Kurvinen et al.

Journal of pediatric gastroenterology and nutrition, 54(6), 803-811 (2011-12-27)

We prospectively evaluated incidence of prolonged (>28 days) parenteral nutrition (PN), associated complications, and significance of parenteral plant sterols (PS) in neonatal intestinal failure-associated liver disease (IFALD) compared with children. We recruited 28 neonates (mean age 50 days, range 28-126)

Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.

Sunghwan Suh et al.

European journal of medical genetics, 55(1), 71-74 (2011-10-01)

Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP27) deficiency. We report three CTX siblings that shared a novel mutation of the CYP27A1 gene. These siblings presented with elevated cholestanol levels and typical

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