deficiency

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Related to Acid lipase deficiency: Lipoprotein lipase deficiency

deficiency

Biology the absence of a gene or a region of a chromosome normally present
References in periodicals archive ?
Both posters entitled "Liver Disease and Chronic Liver Failure have Complete Penetrance in Cholesteryl Ester Storage Disease, a Form of Lysosomal Acid Lipase Deficiency" and "Cholesteryl Ester Storage Disease (CESD): An Under-Recognized Disease of Lysosomal Acid Lipase Deficiency with Liver Dysfunction/Failure and Hyperlipidemia" were submitted by Donna L.
Effect of Sebelipase Alfa After Two Years in Adults with Lysosomal Acid Lipase Deficiency, Rojas-Caro et al.
The company's pipeline programs consist of protein therapeutics for rare diseases with unmet medical need at various stages of development including the lead program, Kanuma(TM) (sebelipase alfa) for lysosomal acid lipase deficiency (LAL Deficiency), SBC-103 for mucopolysaccharidosis IIIB (MPS IIIB, also known as Sanfilippo B syndrome), and SBC-105 for generalized calcification of infancy (GACI) and other rare calcification diseases.