These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

318 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 16.