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Hepatology, ISSN 0270-9139, 09/2013, Volume 58, Issue 3, pp. 958 - 965
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2013, Volume 58, Issue 6, pp. 1230 - 1243
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 09/2015, Volume 373, Issue 11, pp. 1071 - 1073
There are more than 50 different lysosomal storage diseases, genetic disorders characterized by lysosomal accumulation of substrate. 1 Phenotypes vary widely,... 
MEDICINE, GENERAL & INTERNAL | ESTER STORAGE DISEASE | MODEL | Sterol Esterase - therapeutic use | Female | Male | Humans | Wolman Disease - drug therapy | Metabolism, Inborn errors of | Clinical trials | Enzymes | Care and treatment | Usage | Health aspects | Phenotypes | Genetic disorders | Lysosomes | Lysosomal storage diseases | Lipids | Lipase | Macrophages | Drug therapy | Cells
Journal Article
Arteriosclerosis, thrombosis, and vascular biology, ISSN 1079-5642, 2013, Volume 33, Issue 12, pp. 2909 - 2914
Journal Article
Journal of Clinical Pathology, ISSN 0021-9746, 11/2013, Volume 66, Issue 11, pp. 918 - 923
Cholesteryl ester storage disease (CESD) is an autosomal recessive lysosomal storage disorder caused by a variety of mutations of the LIPA gene. These cause... 
atherosclerosis | WOLMAN-DISEASE | lipids | LIVER-TRANSPLANTATION | liver disease | ACCELERATED ATHEROSCLEROSIS | enzymes | DENSITY-LIPOPROTEINS | PATHOLOGY | MESSENGER-RNA | LYSOSOMAL ACID LIPASE | LOVASTATIN THERAPY | SPLICE JUNCTION MUTATION | inherited pathology | ENZYME REPLACEMENT THERAPY | SUBCLINICAL COURSE | Cholesterol Esters - metabolism | Dyslipidemias - genetics | Cholesterol Ester Storage Disease - diagnosis | Atherosclerosis - genetics | Dried Blood Spot Testing | Humans | Sterol Esterase - metabolism | Lysosomes - enzymology | Infant | Wolman Disease - diagnosis | Vascular Diseases - epidemiology | Wolman Disease - therapy | Atherosclerosis - epidemiology | Liver Cirrhosis - epidemiology | Atherosclerosis - therapy | Dyslipidemias - therapy | Atherosclerosis - diagnosis | Cholesterol Ester Storage Disease - genetics | Liver Cirrhosis - genetics | Dyslipidemias - diagnosis | Cholesterol Ester Storage Disease - therapy | Liver Cirrhosis - diagnosis | Vascular Diseases - therapy | Enzyme Inhibitors - pharmacology | Vascular Diseases - genetics | Liver Cirrhosis - therapy | Rare Diseases | Vascular Diseases - diagnosis | Animals | Dyslipidemias - epidemiology | Sterol Esterase - genetics | Metabolic Networks and Pathways | Cholesterol Ester Storage Disease - epidemiology | Sterol Esterase - antagonists & inhibitors | Wolman Disease - epidemiology | Mutation | Wolman Disease - genetics | Metabolism, Inborn errors of | Complications and side effects | Enzymes | Care and treatment | Research | Health aspects | Liver diseases | Transplants & implants | Mortality | Amino acids | Lipids | Epidemiology | Patients | Cholesterol | Proteins | Atherosclerosis | Age
Journal Article
Journal Article
by Wild, Philipp S and Zeller, Tanja and Schillert, Arne and Szymczak, Silke and Sinning, Christoph R and Deiseroth, Arne and Schnabel, Renate B and Lubos, Edith and Keller, Till and Eleftheriadis, Medea S and Bickel, Christoph and Rupprecht, Hans J and Wilde, Sandra and Rossmann, Heidi and Diemert, Patrick and Cupples, L Adrienne and Perret, Claire and Erdmann, Jeanette and Stark, Klaus and Kleber, Marcus E and Epstein, Stephen E and Voight, Benjamin F and Kuulasmaa, Kari and Li, Mingyao and Schäfer, Arne S and Klopp, Norman and Braund, Peter S and Sager, Hendrik B and Demissie, Serkalem and Proust, Carole and König, Inke R and Wichmann, Heinz-Erich and Reinhard, Wibke and Hoffmann, Michael M and Virtamo, Jarmo and Burnett, Mary Susan and Siscovick, David and Wiklund, Per Gunnar and Qu, Liming and El Mokthari, Nour Eddine and Thompson, John R and Peters, Annette and Smith, Albert V and Yon, Emmanuelle and Baumert, Jens and Hengstenberg, Christian and März, Winfried and Amouyel, Philippe and Devaney, Joseph and Schwartz, Stephen M and Saarela, Olli and Mehta, Nehal N and Rubin, Diana and Silander, Kaisa and Hall, Alistair S and Ferrieres, Jean and Harris, Tamara B and Melander, Olle and Kee, Frank and Hakonarson, Hakon and Schrezenmeir, Juergen and Gudnason, Vilmundur and Elosua, Roberto and Arveiler, Dominique and Evans, Alun and Rader, Daniel J and Illig, Thomas and Schreiber, Stefan and Bis, Joshua C and Altshuler, David and Kavousi, Maryam and Witteman, Jaqueline C.M and Uitterlinden, Andre G and Hofman, Albert and Folsom, Aaron R and Barbalic, Maja and Boerwinkle, Eric and Kathiresan, Sekar and Reilly, Muredach P and OʼDonnell, Christopher J and Samani, Nilesh J and Schunkert, Heribert and Cambien, Francois and Lackner, Karl J and Tiret, Laurence and Salomaa, Veikko and Munzel, Thomas and Ziegler, Andreas and Blankenberg, Stefan and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Umeå universitet and Medicin
Circulation: Cardiovascular Genetics, ISSN 1942-325X, 08/2011, Volume 4, Issue 4, pp. 403 - 412
Journal Article
Atherosclerosis, ISSN 0021-9150, 10/2017, Volume 265, pp. 124 - 132
Childhood/Adult-onset Lysosomal Acid Lipase Deficiency (LAL-D) is a recessive disorder due to loss of function variants of LAL, the enzyme which hydrolyses... 
LIPA gene variants | Cholesteryl ester storage disease | Lysosomal acid lipase deficiency | Liver disease | INTIMA-MEDIA THICKNESS | WOLMAN-DISEASE | CARDIAC & CARDIOVASCULAR SYSTEMS | SEBELIPASE ALPHA | PHENOTYPE | ESTER STORAGE DISEASE | HISTIDINE | PERIPHERAL VASCULAR DISEASE | HUMAN GASTRIC LIPASE | Haplotypes | Sterol Esterase - therapeutic use | Liver - pathology | Liver Transplantation | Follow-Up Studies | Hepatomegaly - enzymology | Humans | Child, Preschool | Hepatomegaly - therapy | Infant | Male | Wolman Disease - diagnosis | Sterol Esterase - deficiency | Wolman Disease - therapy | Hypercholesterolemia - drug therapy | Time Factors | DNA Mutational Analysis | Hypercholesterolemia - enzymology | Liver - diagnostic imaging | Cholesterol, LDL - blood | Female | Retrospective Studies | Liver - surgery | Child | Liver Function Tests | Enzyme Replacement Therapy | Genetic Predisposition to Disease | Europe | Gene Frequency | Wolman Disease - enzymology | Treatment Outcome | Biomarkers - blood | Hepatomegaly - genetics | Homozygote | Phenotype | Sterol Esterase - genetics | Biopsy | Adolescent | Age of Onset | Hepatomegaly - diagnosis | Hypercholesterolemia - diagnosis | Heterozygote | Hypolipidemic Agents - therapeutic use | Polymorphism, Single Nucleotide | Hypercholesterolemia - genetics | Mutation | Wolman Disease - genetics | Lipase
Journal Article