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Similar articles for PubMed (Select 18775687)

1.

A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease.

Hooper AJ, Tran HA, Formby MR, Burnett JR.

Clin Chim Acta. 2008 Dec;398(1-2):152-4. doi: 10.1016/j.cca.2008.08.007. Epub 2008 Aug 13.

PMID:
18775687
2.

Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.

Ries S, Büchler C, Schindler G, Aslanidis C, Ameis D, Gasche C, Jung N, Schambach A, Fehringer P, Vanier MT, Belli DC, Greten H, Schmitz G.

Hum Mutat. 1998;12(1):44-51.

PMID:
9633819
3.

Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

Aslanidis C, Ries S, Fehringer P, Büchler C, Klima H, Schmitz G.

Genomics. 1996 Apr 1;33(1):85-93.

PMID:
8617513
4.

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease.

Lohse P, Maas S, Lohse P, Elleder M, Kirk JM, Besley GT, Seidel D.

J Lipid Res. 2000 Jan;41(1):23-31.

5.

Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.

Anderson RA, Bryson GM, Parks JS.

Mol Genet Metab. 1999 Nov;68(3):333-45.

PMID:
10562460
6.

A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.

Redonnet-Vernhet I, Chatelut M, Salvayre R, Levade T.

Hum Mutat. 1998;11(4):335-6.

PMID:
9554751
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8.
9.
10.

Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase.

Redonnet-Vernhet I, Chatelut M, Basile JP, Salvayre R, Levade T.

Biochem Mol Med. 1997 Oct;62(1):42-9.

PMID:
9367797
11.

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.

12.

A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease.

Seedorf U, Wiebusch H, Muntoni S, Christensen NC, Skovby F, Nickel V, Roskos M, Funke H, Ose L, Assmann G.

Arterioscler Thromb Vasc Biol. 1995 Jun;15(6):773-8.

13.

Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

Scott SA, Liu B, Nazarenko I, Martis S, Kozlitina J, Yang Y, Ramirez C, Kasai Y, Hyatt T, Peter I, Desnick RJ.

Hepatology. 2013 Sep;58(3):958-65. doi: 10.1002/hep.26327. Epub 2013 Jul 29.

14.

Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer.

Elleder M, Chlumská A, Hyánek J, Poupĕtová H, Ledvinová J, Maas S, Lohse P.

J Hepatol. 2000 Mar;32(3):528-34.

PMID:
10735626
15.

A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease.

Ameis D, Brockmann G, Knoblich R, Merkel M, Ostlund RE Jr, Yang JW, Coates PM, Cortner JA, Feinman SV, Greten H.

J Lipid Res. 1995 Feb;36(2):241-50.

16.

Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.

Maslen CL, Babcock D, Illingworth DR.

J Inherit Metab Dis. 1995;18(5):620-3.

PMID:
8598644
17.

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
18.

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S.

Mol Genet Metab. 2012 Mar;105(3):450-6. doi: 10.1016/j.ymgme.2011.12.008. Epub 2011 Dec 17.

PMID:
22227072
19.

Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.

Pagani F, Garcia R, Pariyarath R, Stuani C, Gridelli B, Paone G, Baralle FE.

Hum Mol Genet. 1996 Oct;5(10):1611-7.

20.

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

Tanaka A.

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

PMID:
8577049
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