This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources.
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Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. Genomics [Internet]. Cholesteryl ester storage disease: Review of the findings in reported patients with an underdiagnosed disease. J Hepatol [Internet]. Enzyme deficiency in cholesteryl ester storage idisease. J Clin Invest. Generalized xanthomatosis with calcified adrenals. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.
Genet Med. Fredrickson D. Newly recognized disorders of cholesterol metabolism. Ann Intern Med. Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.
Mol Genet Metab. Prevalence of cholesteryl ester storage disease. Arterioscler Thromb Vasc Biol. Mol Genet Metab [Internet]. Cholesteryl ester storage disease: An easily missed diagnosis in oligosymptomatic children. Z Gastroenterol.
Structural bases of Wolman disease and cholesteryl ester storage disease. Lysosomal acid lipase deficiency - An under-recognized cause of dyslipidaemia and liver dysfunction. Zhang B, Porto AF. Cholesteryl Ester Storage Disease. J Pediatr Gastroenterol Nutr. Pediatr Radiol. Jones S a. Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency. Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer.
J Hepatol. Subclinical course of cholesterol ester storage disease CESD diagnosed in adulthood - Report on two cases with remarks on the nature of the liver storage process. J Lipid Res. Hepatocarcinoma in a child with cholesterol ester storage disease. Dig Liver Dis. Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report. World J Gastroenterol. A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2.
Clin Chim Acta [Internet]. Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. Clin Chim Acta. Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens. The diagnosis and management of non-alcoholic fatty liver disease: Practice guideline by the American Gastroenterological Association, American Association for the Study of Liver Diseases, and American College of Gastroenterology.
Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Hepatosplenomegalic lipidosis: What unless Gaucher? Adult cholesteryl ester storage disease CESD with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation.
Masi L, Brandi ML. Gaucher disease: the role of the specialist on metabolic bone diseases. Clin Cases Miner Bone Metab.
Hum Mutat. Int J Mol Sci. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Utilization of cornstarch in glycogen storage disease type Ia. Eur J Gastroenterol Hepatol [Internet]. Avaria, M, Kleinsteuber S. Trastorno del metabolismo de hidratos de carbono. In: Editores R, editor. What is metabolic syndrome, and why are children getting it?
Ann N Y Acad Sci. Varghese M. Familial hypercholesterolemia: A review. Ann Pediatr Cardiol [Internet]. Familial hypercholesterol?? Eur Heart J. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease. Hiperlipidemia familiar combinada: documento de consenso. Aten Primaria. Carta de originalidad. Hepatomegaly in neonates and children.
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Alternative titles; symbols. Other entities represented in this entry:. Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease CESD. Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life.
Guía colombiana para el diagnóstico de la deficiencia de lipasa ácida
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. Genomics [Internet]. Cholesteryl ester storage disease: Review of the findings in reported patients with an underdiagnosed disease. J Hepatol [Internet]. Enzyme deficiency in cholesteryl ester storage idisease.