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Items: 1 to 20 of 39

1.

New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.

Pagani F, Pariyarath R, Garcia R, Stuani C, Burlina AB, Ruotolo G, Rabusin M, Baralle FE.

J Lipid Res. 1998 Jul;39(7):1382-8.

2.

Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.

Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA.

Mol Genet Metab. 1998 Jun;64(2):126-34. Review.

PMID:
9705237
3.

[Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease].

Tanaka A.

Nihon Rinsho. 1995 Dec;53(12):3004-8. Review. Japanese.

PMID:
8577049
4.

ACAT/CEH and ACEH/LAL: two key enzymes in hepatic cellular cholesterol homeostasis and their involvement in genetic disorders.

Schmitz G, Becker A, Aslanidis C.

Z Gastroenterol. 1996 Jun;34 Suppl 3:68-72. Review. No abstract available.

PMID:
8767468
5.

[Acid lipase deficiency (Wolman disease and cholesteryl ester storage disease: CESD)].

Tanaka A.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):427-30. Review. Japanese. No abstract available.

PMID:
9645100
6.

Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases.

Porto AF.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:125-32. Review.

PMID:
25345094
7.

Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease.

Tylki-Szymańska A, Jurecka A.

Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014;35(1):99-106. Review.

PMID:
24798600
8.

Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency.

Zhang B, Porto AF.

J Pediatr Gastroenterol Nutr. 2013 Jun;56(6):682-5. doi: 10.1097/MPG.0b013e31828b36ac. Review.

PMID:
23403440
9.

Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.

Bernstein DL, Hülkova H, Bialer MG, Desnick RJ.

J Hepatol. 2013 Jun;58(6):1230-43. doi: 10.1016/j.jhep.2013.02.014. Epub 2013 Feb 26. Review.

10.

Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.

Aguisanda F, Thorne N, Zheng W.

Curr Chem Genom Transl Med. 2017 Jan 30;11:1-18. doi: 10.2174/2213988501711010001. eCollection 2017. Review.

11.

Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis.

Reynolds T.

J Clin Pathol. 2013 Nov;66(11):918-23. doi: 10.1136/jclinpath-2012-201302. Epub 2013 Sep 2. Review.

PMID:
23999269
12.

Overexpression of lysosomal acid lipase and other proteins in atherosclerosis.

Zschenker O, Illies T, Ameis D.

J Biochem. 2006 Jul;140(1):23-38. Review.

PMID:
16877765
13.

[Wolman disease and cholesteryl ester storage disease].

Tanaka A.

Nihon Rinsho. 2001 Mar;59 Suppl 3:337-40. Review. Japanese. No abstract available.

PMID:
11347090
14.

Lysosomal acid lipase A and the hypercholesterolaemic phenotype.

Fouchier SW, Defesche JC.

Curr Opin Lipidol. 2013 Aug;24(4):332-8. doi: 10.1097/MOL.0b013e328361f6c6. Review.

PMID:
23652569
15.

[The role and mechanism of lysosomal acid lipase activity].

Piskorska D, Kopieczna-Grzebieniak E.

Przegl Lek. 1988;45(8):637-40. Review. Polish. No abstract available.

PMID:
3070642
16.

Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency.

Maciejko JJ.

Am J Cardiovasc Drugs. 2017 Jun;17(3):217-231. doi: 10.1007/s40256-017-0216-5. Review. Erratum in: Am J Cardiovasc Drugs. 2017 Jun;17 (3):233.

PMID:
28197978
18.

Hepatic lipase deficiency.

Connelly PW, Hegele RA.

Crit Rev Clin Lab Sci. 1998 Dec;35(6):547-72. Review.

PMID:
9885775
19.

Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?

Baratta F, Pastori D, Polimeni L, Tozzi G, Violi F, Angelico F, Del Ben M.

Int J Mol Sci. 2015 Nov 25;16(12):28014-21. doi: 10.3390/ijms161226085. Review.

20.

Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.

Reiner Ž, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, Jones S, Ćorić M, Calandra S, Hamilton J, Eagleton T, Ros E.

Atherosclerosis. 2014 Jul;235(1):21-30. doi: 10.1016/j.atherosclerosis.2014.04.003. Epub 2014 Apr 15. Review.

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