1 | LIPA, LIPAD
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| Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report.
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| Akki AS, Chung SM, Rudolph BJ, Ewart MR.
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| Lab Med 49(4):377-384. doi: 10.1093/labmed/lmy027.
2018
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2 | LIPA, LIPAD
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| Lysosomal acid lipase and lipid metabolism: new mechanisms, new questions, and new therapies.
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| Zhang H.
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| Curr Opin Lipidol 29(3):218-223. doi: 10.1097/MOL.0000000000000507.
2018
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3 | LIPA, LIPAD
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| Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene.
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| Vinje T, Wierød L, Leren TP, Strøm TB.
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| Mol Genet Metab 123(2):169-176. doi: 10.1016/j.ymgme.2017.11.008. Epub 2017 Nov 23.
2018
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4 | LIPA, LIPAD
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| Lysosomal Acid Lipase Deficiency: Could Dyslipidemia Drive the Diagnosis?
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| Guardamagna O, Guaraldi F.
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| Curr Pediatr Rev 13(4):232-242. doi: 10.2174/1573396314666180111144514. Review.
2017
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5 | LIPA
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| CRISPR/Cas9-Mediated Gene Editing in Human iPSC-Derived Macrophage Reveals Lysosomal Acid Lipase Function in Human Macrophages-Brief Report.
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| Zhang H, Shi J, Hachet MA, Xue C, Bauer RC, Jiang H, Li W, Tohyama J, Millar J, Billheimer J, Phillips MC, Razani B, Rader DJ, Reilly MP.
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| Arterioscler Thromb Vasc Biol 37(11):2156-2160. doi: 10.1161/ATVBAHA.117.310023. Epub 2017 Sep 7.
2017
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6 | LIPA, LIPAD
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| Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency.
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| Pericleous M, Kelly C, Wang T, Livingstone C, Ala A.
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| Lancet Gastroenterol Hepatol 2(9):670-679. doi: 10.1016/S2468-1253(17)30052-3. Review.
2017
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7 | LIPA
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| Severe reduction of blood lysosomal acid lipase activity in cryptogenic cirrhosis: A nationwide multicentre cohort study.
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| Angelico F, Corradini SG, Pastori D, Fargion S, Fracanzani AL, Angelico M, Bolondi L, Tozzi G, Pujatti PL, Labbadia G, Corazza GR, Averna M, Perticone F, Croce G, Persico M, Bucci T, Baratta F, Polimeni L, Del Ben M, Violi F; LAL-Cirrhosis Collaborative Research Group.
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| Atherosclerosis 262:179-184. doi: 10.1016/j.atherosclerosis.2017.03.038. Epub 2017 Mar 31.
2017
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8 | LIPA, WIPF3
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| Association of non-synonymous variants in WIPF3 and LIPA genes with abdominal aortic aneurysm: an autopsy study.
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| Maeda Y, Sato N, Naka-Mieno M, Mori S, Arai T, Tanaka M, Muramatsu M, Sawabe M.
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| J Geriatr Cardiol 13(12):960-967. doi: 10.11909/j.issn.1671-5411.2016.12.003.
2016
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9 | LIPA
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| Lysosomal acid lipase in mesenchymal stem cell stimulation of tumor growth and metastasis.
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| Zhao T, Yan C, Du H.
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| Oncotarget 7(38):61121-61135. doi: 10.18632/oncotarget.11244.
2016
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10 | APOA5, BUD13, CETP, LIPA
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| Association and interaction of APOA5, BUD13, CETP, LIPA and health-related behavior with metabolic syndrome in a Taiwanese population. 2016 PMID:
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| Lin E, Kuo PH, Liu YL, Yang AC, Kao CF, Tsai SJ.
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| Sci Rep. Nov 9;6:36830. doi: 10.1038/srep36830. 2016
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11 | LIPA, LIPAD
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| Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.
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| Rajamohan F, Reyes AR, Ruangsiriluk W, Hoth LR, Han S, Caspers N, Tu M, Ward J, Kurumbail RG.
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| Protein Expr Purif 110:22-9. doi: 10.1016/j.pep.2014.12.009. Epub 2015 Jan 22.
2015
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12 | LIPA, SOAT2
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| Deletion of sterol O-acyltransferase 2 (SOAT2) function in mice deficient in lysosomal acid lipase (LAL) dramatically reduces esterified cholesterol sequestration in the small intestine and liver.
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| Lopez AM, Posey KS, Turley SD.
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| Biochem Biophys Res Commun 454(1):162-6. doi: 10.1016/j.bbrc.2014.10.063. Epub 2014 Oct 18.
2014
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13 | FOXO1, LIPA
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| FoxO1 controls lysosomal acid lipase in adipocytes: implication of lipophagy during nutrient restriction and metformin treatment.
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| Lettieri Barbato D, Tatulli G, Aquilano K, Ciriolo MR.
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| Cell Death Dis 4:e861. doi: 10.1038/cddis.2013.404.
2013
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14 | LIPA
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| Lysosomal acid lipase A and the hypercholesterolaemic phenotype.
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| Fouchier SW, Defesche JC.
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| Curr Opin Lipidol 24(4):332-8. doi: 10.1097/MOL.0b013e328361f6c6. Review.
2013
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15 | ABCA1, LIPA, LIPAD
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| Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.
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| Bowden KL, Bilbey NJ, Bilawchuk LM, Boadu E, Sidhu R, Ory DS, Du H, Chan T, Francis GA.
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| J Biol Chem 286(35):30624-35. doi: 10.1074/jbc.M111.274381. Epub 2011 Jul 10.
2011
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16 | LIPA, LIPAD
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| Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.
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| Pisciotta L, Fresa R, Bellocchio A, Pino E, Guido V, Cantafora A, Di Rocco M, Calandra S, Bertolini S.
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| Mol Genet Metab 97(2):143-8. Epub 2009 Feb 26. 2009
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17 | LIPA
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| Role of lysosomal acid lipase in the intracellular metabolism of LDL-transported dehydroepiandrosterone-fatty acyl esters.
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| Wang F, Wang W, Wähälä K, Adlercreutz H, Ikonen E, Tikkanen MJ.
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| Am J Physiol Endocrinol Metab 295(6):E1455-61. Epub 2008 Sep 16. 2008
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18 | LIPA
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| Influence of lysosomal acid lipase polymorphisms on chromosome 10 on the risk of Alzheimer's disease and cholesterol metabolism.
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| von Trotha KT, Heun R, Schmitz S, Lütjohann D, Maier W, Kölsch H.
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| Neurosci Lett 402(3):262-6. Epub 2006 May 26. 2006
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19 | LIPA, LIPAD
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| Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.
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| Lohse P, et al.
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| J Lipid Res 40(2):221-228. 1999
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20 | LIPA, LIPAD
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| Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.
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| Ries S, et al.
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| Hum Mutat 12 : 44-51. 1998
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21 | LIPA, LIPAD
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| Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
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| Du H, et al.
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| Mol Genet Metab 64 : 126-134. 1998
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22 | LIPA, LIPAD
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| New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.
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| Pagani F, et al.
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| J Lipid Res 39 : 1382-1388. 1998
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23 | LIPA, LIPAD
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| Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
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| Aslanidis C, et al.
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| Genomics 33 : 85-93. 1996
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24 | LIPA, LIPAD
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| Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.
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| Pagani F, et al.
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| Hum Mol Genet 5 : 1611-1617. 1996
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25 | LIPA, LIPAD
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| A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.
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| Ries S, et al.
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| J Lipid Res 37 : 1761-1765. 1996
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26 | LIPA, LIPAD
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| Short report on DNA marker at candidate locus. A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD).
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| Wiebusch H, et al.
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| Clin Genet 50 : 106-107. 1996
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27 | LIPA
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| A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.
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| Fujiyama J, et al.
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| Hum Mutat 8 : 377-380. 1996
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28 | LIPA
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| Occurence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.
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| Maslen CL, et al.
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| J Inherit Metab Dis 18 : 620-623. 1995
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29 | LIPA, LIPAD
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| Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).
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| Muntoni S, et al.
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| Hum Genet 95 : 491-494. 1995
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30 | LIPA
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| Genomic organization of the human lysosomal acid lipase gene (LIPA).
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| Aslanidis C, et al.
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| Genomics 20 : 329-331. 1994
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31 | LIPA
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| A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.
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| Pagani F, et al.
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| Hum Mol Genet 3 : 1605-1609. 1994
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32 | LIPA
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| Tri- and tetranucleotide repeat polymorphism in the LIPA gene.
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| Aslanidis C, et al.
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| Hum Mol Genet 3 : 2269. 1994
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33 | LIPA
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| Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
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| Anderson RA, et al.
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| Proc Natl Acad Sci U S A 91 : 2718-2722. 1994
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34 | LIPA, LIPAD
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| A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
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| Klima H, et al.
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| J Clin Invest 92 : 2713-2718. 1993
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35 | LIPA
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| In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3.
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| Anderson RA, et al.
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| Genomics 15 : 245-247. 1993
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36 | LIPA
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| Molecular cloning of the lysosomal cholesterol esterase absent in Wolman disease shows it belongs to an acid lipase gene family.
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| Anderson R, et al.
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| Am J Hum Genet 49S : 398. 1991
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37 | LIPA
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| Cholesteryl ester storage disease and Wolman disease : phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.
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| Hoeg JM, et al.
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| Am J Hum Genet 36 : 1190-1203. 1984
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38 | LIPA, LIPB
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| Assignment of the genes for human lysosomal acid lipases A and B to chromosomes 10 and 16.
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| Nguyen Van Cong, et al.
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| Hum Genet 55 : 375-381. 1980
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39 | LIPA
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| Assignment of lipase A (LIPA) to human chromosome 10.
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| Koch GA, et al.
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| Cytogenet Cell Genet 25 : 174. 1979
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40 | LIPA
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| 120.
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| Single nucleotide polymorphisms within LIPA (Lysosomal Acid Lipase A) gene are associated with susceptibility to premature coronary artery disease.
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| Vargas-Alarcón G, Posadas-Romero C, Villarreal-Molina T, Alvarez-León E, Angeles J, Vallejo M, Posadas-Sánchez R, Cardoso G, Med argas-Alarcón G, Posadas-Romero C, Villarreal-Molina T, Alvarez-León E, Angeles J, Vallejo M, Posadas-Sánchez R, Cardoso G, Medi
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