BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 30056760)

  • 1. Estimation of the prevalence of cholesteryl ester storage disorder in a cohort of patients with clinical features of familial hypercholesterolaemia.
    Ashfield-Watt P; Haralambos K; Edwards R; Townsend D; Gingell R; Wa Li K; Humphries SE; McDowell I
    Ann Clin Biochem; 2019 Jan; 56(1):112-117. PubMed ID: 30056760
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 23424026
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene.
    Vinje T; Wierød L; Leren TP; Strøm TB
    Mol Genet Metab; 2018 Feb; 123(2):169-176. PubMed ID: 29196158
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
    Stitziel NO; Fouchier SW; Sjouke B; Peloso GM; Moscoso AM; Auer PL; Goel A; Gigante B; Barnes TA; Melander O; Orho-Melander M; Duga S; Sivapalaratnam S; Nikpay M; Martinelli N; Girelli D; Jackson RD; Kooperberg C; Lange LA; Ardissino D; McPherson R; Farrall M; Watkins H; Reilly MP; Rader DJ; de Faire U; Schunkert H; Erdmann J; Samani NJ; Charnas L; Altshuler D; Gabriel S; Kastelein JJ; Defesche JC; Nederveen AJ; Kathiresan S; Hovingh GK;
    Arterioscler Thromb Vasc Biol; 2013 Dec; 33(12):2909-14. PubMed ID: 24072694
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease.
    Sjouke B; van der Stappen JW; Groener JE; Pepping A; Wevers RA; Gouw A; Dikkeschei LD; Mijnhout S; Hovingh GK; Alleman MA
    Neth J Med; 2015 Mar; 73(3):129-32. PubMed ID: 25852113
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia.
    Sjouke B; Defesche JC; de Randamie JSE; Wiegman A; Fouchier SW; Hovingh GK
    Atherosclerosis; 2016 Aug; 251():263-265. PubMed ID: 27423329
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations.
    Muntoni S; Wiebusch H; Jansen-Rust M; Rust S; Schulte H; Berger K; Pisciotta L; Bertolini S; Funke H; Seedorf U; Assmann G
    Nutr Metab Cardiovasc Dis; 2013 Aug; 23(8):732-6. PubMed ID: 22795295
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome.
    Sjouke B; Kusters DM; Kindt I; Besseling J; Defesche JC; Sijbrands EJ; Roeters van Lennep JE; Stalenhoef AF; Wiegman A; de Graaf J; Fouchier SW; Kastelein JJ; Hovingh GK
    Eur Heart J; 2015 Mar; 36(9):560-5. PubMed ID: 24585268
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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).
    Muntoni S; Wiebusch H; Funke H; Ros E; Seedorf U; Assmann G
    Hum Genet; 1995 May; 95(5):491-4. PubMed ID: 7759067
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 18775687
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency.
    Consuelo-Sánchez A; Vázquez-Frias R; Reyes-De La Rosa A; Acosta-Rodríguez-Bueno CP; Ortal-Vite MP; Cebolla JJ
    Ann Hepatol; 2019; 18(4):646-650. PubMed ID: 31182375
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
    Zhang JH; Lin AP; Zhang L; Ruan DD; Gao MZ; Chen Q; Yu HP; Liao LS; Lin XF; Fang ZT; Lin F; Lu SY; Luo JW; Zheng XL; Chen MS
    Dig Dis Sci; 2024 Jun; 69(6):2109-2122. PubMed ID: 38564148
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 9705237
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 10627498
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 7773732
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
    Sánchez-Hernández RM; Civeira F; Stef M; Perez-Calahorra S; Almagro F; Plana N; Novoa FJ; Sáenz-Aranzubía P; Mosquera D; Soler C; Fuentes FJ; Brito-Casillas Y; Real JT; Blanco-Vaca F; Ascaso JF; Pocovi M
    Circ Cardiovasc Genet; 2016 Dec; 9(6):504-510. PubMed ID: 27784735
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.
    Diakou M; Miltiadous G; Xenophontos SL; Manoli P; Cariolou MA; Elisaf M
    Eur J Intern Med; 2011 Oct; 22(5):e55-9. PubMed ID: 21925044
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia.
    Rubba P; Gentile M; Marotta G; Iannuzzi A; Sodano M; De Simone B; Jossa F; Iannuzzo G; Giacobbe C; Di Taranto MD; Fortunato G
    Eur J Prev Cardiol; 2017 Jul; 24(10):1051-1059. PubMed ID: 28353356
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.