Article
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
World journal of gastroenterology - 21 Jan 2015
Santillán-Hernández Yuritzi, Almanza-Miranda Enory, Xin Winnie W, Goss Kendrick, Vera-Loaiza Aurea, Gorráez-de la Mora María T, Piña-Aguilar Raul E
Abstract excerpt
Lysosomal acid lipase (LAL) deficiency is an under-recognized lysosomal disease caused by deficient enzymatic activity of LAL. In this report we describe two affected female Mexican siblings with early hepatic complications. At two months of age, the first sibling presented with alternating episodes of diarrhea and constipation, and later with hepatomegaly, elevated transaminases, high levels of total and...
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