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 *

136 related articles for article (PubMed ID: 30249571)

  • 21. Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency.
    Zhang B; Porto AF
    J Pediatr Gastroenterol Nutr; 2013 Jun; 56(6):682-5. PubMed ID: 23403440
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Lysosomal acid lipase deficiency in all siblings of the same parents.
    Maciejko JJ; Anne P; Raza S; Lyons HJ
    J Clin Lipidol; 2017; 11(2):567-574. PubMed ID: 28502515
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
    Del Angel G; Hutchinson AT; Jain NK; Forbes CD; Reynders J
    Hum Mutat; 2019 Nov; 40(11):2007-2020. PubMed ID: 31180157
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Structural bases of Wolman disease and cholesteryl ester storage disease.
    Saito S; Ohno K; Suzuki T; Sakuraba H
    Mol Genet Metab; 2012 Feb; 105(2):244-8. PubMed ID: 22138108
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?
    Baratta F; Pastori D; Polimeni L; Tozzi G; Violi F; Angelico F; Del Ben M
    Int J Mol Sci; 2015 Nov; 16(12):28014-21. PubMed ID: 26602919
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Structure-based virtual screening to identify potential lipase inhibitors to reduce lipid storage in Wolman disorder.
    Vasudevan K; Udhaya Kumar S; Mithun A; Raghavendra B; George Priya Doss C
    Adv Protein Chem Struct Biol; 2023; 133():351-363. PubMed ID: 36707205
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Identification of rare diseases by screening a population selected on the basis of routine pathology results-the PATHFINDER project: lysosomal acid lipase/cholesteryl ester storage disease substudy.
    Reynolds TM; Mewies C; Hamilton J; Wierzbicki AS;
    J Clin Pathol; 2018 Jul; 71(7):608-613. PubMed ID: 29358478
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis.
    Tinsa F; Ben Romdhane M; Boudabous H; Bel Hadj I; Brini I; Tebib N; Louati H; Bekri S; Boussetta K
    J Pediatr Hematol Oncol; 2019 Apr; 41(3):e193-e196. PubMed ID: 29702543
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Lysosomal acid lipase deficiency in Brazilian children: a case series.
    Benevides GN; Miura IK; Person NC; Pugliese RPS; Danesi VLB; Lima FR; Porta G
    J Pediatr (Rio J); 2019; 95(5):552-558. PubMed ID: 31340901
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.
    Jones SA; Valayannopoulos V; Schneider E; Eckert S; Banikazemi M; Bialer M; Cederbaum S; Chan A; Dhawan A; Di Rocco M; Domm J; Enns GM; Finegold D; Gargus JJ; Guardamagna O; Hendriksz C; Mahmoud IG; Raiman J; Selim LA; Whitley CB; Zaki O; Quinn AG
    Genet Med; 2016 May; 18(5):452-8. PubMed ID: 26312827
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report.
    Akki AS; Chung SM; Rudolph BJ; Ewart MR
    Lab Med; 2018 Oct; 49(4):377-384. PubMed ID: 29982809
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice.
    Du H; Heur M; Witte DP; Ameis D; Grabowski GA
    Hum Gene Ther; 2002 Jul; 13(11):1361-72. PubMed ID: 12162818
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Benefit of Treatment With Sebelipase-Alfa in a 63-Year-Old Patient With Advanced Liver and Atherosclerotic Disease Due to Lysosomal Acid Lipase Deficiency (LAL-D).
    Aigner E; Feldman A; Neureiter D; Datz C; Ratziu V; Paulweber B
    Am J Gastroenterol; 2018 Mar; 113(3):443-445. PubMed ID: 29535442
    [No Abstract]   [Full Text] [Related]  

  • 39. Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency.
    Frampton JE
    Am J Cardiovasc Drugs; 2016 Dec; 16(6):461-468. PubMed ID: 27878737
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Wolman disease].
    Mnif K; Chabchoub A; Marrakchi Z; Ayachi R; Khrouf N
    Arch Pediatr; 1994 Jul; 1(7):663-6. PubMed ID: 7987466
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.