197 related articles for article (PubMed ID: 8432549)
1. 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.
Anderson RA; Rao N; Byrum RS; Rothschild CB; Bowden DW; Hayworth R; Pettenati M
Genomics; 1993 Jan; 15(1):245-7. PubMed ID: 8432549
[No Abstract] [Full Text] [Related]
2. 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; 33(1):85-93. PubMed ID: 8617513
[TBL] [Abstract][Full Text] [Related]
3. Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
Anderson RA; Byrum RS; Coates PM; Sando GN
Proc Natl Acad Sci U S A; 1994 Mar; 91(7):2718-22. PubMed ID: 8146180
[TBL] [Abstract][Full Text] [Related]
4. Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.
Rajamohan F; Reyes AR; Ruangsiriluk W; Hoth LR; Han S; Caspers N; Tu M; Ward J; Kurumbail RG
Protein Expr Purif; 2015 Jun; 110():22-9. PubMed ID: 25620107
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 22227072
[TBL] [Abstract][Full Text] [Related]
6. Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease.
Ameis D; Greten H
Z Gastroenterol; 1996 Jun; 34 Suppl 3():66-7. PubMed ID: 8767467
[No Abstract] [Full Text] [Related]
7. [Wolman disease with novel mutation of LIPA gene in a Chinese infant].
Huang YL; Sheng HY; Zhao XY; Yu JK; Li L; Liu HS; Gu CM; He DM; Liu L
Zhonghua Er Ke Za Zhi; 2012 Aug; 50(8):601-5. PubMed ID: 23158738
[TBL] [Abstract][Full Text] [Related]
8. Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
Santillán-Hernández Y; Almanza-Miranda E; Xin WW; Goss K; Vera-Loaiza A; Gorráez-de la Mora MT; Piña-Aguilar RE
World J Gastroenterol; 2015 Jan; 21(3):1001-8. PubMed ID: 25624737
[TBL] [Abstract][Full Text] [Related]
9. Identification and metabolic profiling of patients with lysosomal acid lipase deficiency.
Pullinger CR; Stock EO; Movsesyan I; Malloy MJ; Frost PH; Tripuraneni R; Quinn AG; Ishida BY; Schaefer EJ; Asztalos BF; Kane JP
J Clin Lipidol; 2015; 9(5):716-26.e1. PubMed ID: 26350820
[TBL] [Abstract][Full Text] [Related]
10. Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
Pisciotta L; Tozzi G; Travaglini L; Taurisano R; Lucchi T; Indolfi G; Papadia F; Di Rocco M; D'Antiga L; Crock P; Vora K; Nightingale S; Michelakakis H; Garoufi A; Lykopoulou L; Bertolini S; Calandra S
Atherosclerosis; 2017 Oct; 265():124-132. PubMed ID: 28881270
[TBL] [Abstract][Full Text] [Related]
11. Genetic lipid storage disease with lysosomal acid lipase deficiency in rats.
Yoshida H; Kuriyama M
Lab Anim Sci; 1990 Sep; 40(5):486-9. PubMed ID: 2170747
[TBL] [Abstract][Full Text] [Related]
12. Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients.
Guénard F; Houde A; Bouchard L; Tchernof A; Deshaies Y; Biron S; Lescelleur O; Biertho L; Marceau S; Pérusse L; Vohl MC
Obesity (Silver Spring); 2012 Oct; 20(10):2075-82. PubMed ID: 22395809
[TBL] [Abstract][Full Text] [Related]
13. Intragenic deletion as a novel type of mutation in Wolman disease.
Lee TM; Welsh M; Benhamed S; Chung WK
Mol Genet Metab; 2011 Dec; 104(4):703-5. PubMed ID: 21963785
[TBL] [Abstract][Full Text] [Related]
14. Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.
Lohse P; Maas S; Sewell AC; van Diggelen OP ; Seidel D
J Lipid Res; 1999 Feb; 40(2):221-8. PubMed ID: 9925650
[TBL] [Abstract][Full Text] [Related]
15. Influence of lysosomal acid lipase polymorphisms on chromosome 10 on the risk of Alzheimer's disease and cholesterol metabolism.
von Trotha KT; Heun R; Schmitz S; Lütjohann D; Maier W; Kölsch H
Neurosci Lett; 2006 Jul; 402(3):262-6. PubMed ID: 16730122
[TBL] [Abstract][Full Text] [Related]
16. Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders.
Westerterp M; Li F; Zhang H
J Lipid Res; 2023 Dec; 64(12):100474. PubMed ID: 37972729
[No Abstract] [Full Text] [Related]
17. The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.
Carter A; Brackley SM; Gao J; Mann JP
J Hepatol; 2019 Jan; 70(1):142-150. PubMed ID: 30315827
[TBL] [Abstract][Full Text] [Related]
18. Lysosomal acid lipase and lipid metabolism: new mechanisms, new questions, and new therapies.
Zhang H
Curr Opin Lipidol; 2018 Jun; 29(3):218-223. PubMed ID: 29547398
[TBL] [Abstract][Full Text] [Related]
19. [Wolman disease].
Tanaka A
Nihon Rinsho; 2006 May; Suppl 1():750-2. PubMed ID: 16776266
[No Abstract] [Full Text] [Related]
20. 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. PubMed ID: 23999269
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
