Results 151 to 160 of about 2,984,931 (176)
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The Key Clinical Manifestations of Lysosomal Acid Lipase Deficiency
Journal of Pediatric Gastroenterology and Nutrition, 2016[No abstract available]
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Muscular involvement in lysosomal acid lipase deficiency in rats
Journal of the Neurological Sciences, 1992We investigated the pathological and biochemical changes of skeletal muscle in rats with lysosomal acid lipase deficiency, which is an animal counterpart of human Wolman's disease. In the affected rats, the acid lipase activity for three different substrates, 4-methylumbelliferyl-oleate (18.9% of the normal control level), [14C]cholesteryl oleate (23.5%
Y, Honda +5 more
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Lysosomal acid lipase deficiency in all siblings of the same parents
Journal of Clinical Lipidology, 2017We present 4 normal-weight sibling children with lysosomal acid lipase deficiency (LAL-D). LAL-D was considered in the differential diagnosis based on the absence of secondary causes and primary inherited traits for their marked hyperlipidemia, together with unexplained hepatic transaminase elevation.
James J Maciejko, Premchand Anne
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Lysosomal acid lipase deficiency in seven children
Pathology, 2014Background Lysosomal acid lipase (LAL) hydrolyzes cholesterol. LAL deficiency (LALD) presents as Wolman disease (WD) in the first months of life, and as cholesterol ester storage disease (CESD) later in life. The incidence of LALD is about 1:150,000– 300,000 births.
Alfredo Valero +5 more
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Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency
American Journal of Cardiovascular Drugs, 2016Sebelipase alfa (Kanuma®, Kanuma™), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patients diagnosed with LAL deficiency (LAL-D), an ultra-rare, autosomal recessive, progressive ...
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Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency
American Journal of Cardiovascular Drugs, 2017Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes.
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Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency
Expert Opinion on Orphan Drugs, 2022Jorge Javier Cebolla +2 more
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CONSEQUENCES OF LYSOSOMAL ACID LIPASE DEFICIENCY IN MACROPHAGES
Atherosclerosis, 2016M.C. Duta-Mare +7 more
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Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?
Journal of Clinical Lipidology, 2017Mafalda Bourbon +2 more
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