Article
Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.
Journal of lipid research - 1 Feb 2014
Behar Doron M, Basel-Vanagaite Lina, Glaser Fabian, Kaplan Marielle, Tzur Shay, Magal Nurit, Eidlitz-Markus Tal, Haimi-Cohen Yishay, Sarig Galit, Bormans Concetta, Shohat Mordechai, Zeharia Avraham
Abstract excerpt
Congenital pancreatic lipase (PNLIP) deficiency is a rare monoenzymatic form of exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health. While considered to be an autosomal recessive state affecting a few dozens of individuals world-wide and involving the PNLIP gene, no causative mutations...
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