BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

322 related articles for article (PubMed ID: 9633819)

  • 1. 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. PubMed ID: 9633819
    [TBL] [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. 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]  

  • 4. 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. PubMed ID: 9554751
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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.
    Klima H; Ullrich K; Aslanidis C; Fehringer P; Lackner KJ; Schmitz G
    J Clin Invest; 1993 Dec; 92(6):2713-8. PubMed ID: 8254026
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 10562460
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.
    Ries S; Aslanidis C; Fehringer P; Carel JC; Gendrel D; Schmitz G
    J Lipid Res; 1996 Aug; 37(8):1761-5. PubMed ID: 8864960
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease].
    Tanaka A
    Nihon Rinsho; 1995 Dec; 53(12):3004-8. PubMed ID: 8577049
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 9684740
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 9367797
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Lysosomal acid lipase deficiency. Overview of Czech patients].
    Elleder M; Poupĕtová H; Ledvinová J; Hyánek J; Zeman J; Sýkora J; Stozický F; Chlumská A; Lohse P
    Cas Lek Cesk; 1999 Nov; 138(23):719-24. PubMed ID: 10746035
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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; Yang JW; Coates PM; Cortner JA; Feinman SV; Greten H
    J Lipid Res; 1995 Feb; 36(2):241-50. PubMed ID: 7751811
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin.
    Gasche C; Aslanidis C; Kain R; Exner M; Helbich T; Dejaco C; Schmitz G; Ferenci P
    J Hepatol; 1997 Oct; 27(4):744-50. PubMed ID: 9365051
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.
    Du H; Duanmu M; Witte D; Grabowski GA
    Hum Mol Genet; 1998 Sep; 7(9):1347-54. PubMed ID: 9700186
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.
    Pagani F; Zagato L; Merati G; Paone G; Gridelli B; Maier JA
    Hum Mol Genet; 1994 Sep; 3(9):1605-9. PubMed ID: 7833918
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease.
    Civallero G; De Mari J; Bittar C; Burin M; Giugliani R
    Gene; 2014 Apr; 539(1):154-6. PubMed ID: 24508470
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 17.