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 *

215 related articles for article (PubMed ID: 37480063)

  • 41. Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.
    McGovern MM; Wasserstein MP; Bembi B; Giugliani R; Mengel KE; Vanier MT; Zhang Q; Peterschmitt MJ
    Orphanet J Rare Dis; 2021 May; 16(1):212. PubMed ID: 33971920
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Newborn screening of lysosomal storage disorders.
    Marsden D; Levy H
    Clin Chem; 2010 Jul; 56(7):1071-9. PubMed ID: 20489136
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
    Burton BK; Charrow J; Hoganson GE; Waggoner D; Tinkle B; Braddock SR; Schneider M; Grange DK; Nash C; Shryock H; Barnett R; Shao R; Basheeruddin K; Dizikes G
    J Pediatr; 2017 Nov; 190():130-135. PubMed ID: 28728811
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India.
    Kadali S; Kolusu A; Sunkara S; Gummadi MR; Undamatla J
    Clin Chim Acta; 2016 Jun; 457():8-11. PubMed ID: 26975750
    [TBL] [Abstract][Full Text] [Related]  

  • 45. New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.
    Spiewak J; Doykov I; Papandreou A; Hällqvist J; Mills P; Clayton PT; Gissen P; Mills K; Heywood WE
    Int J Mol Sci; 2023 Jun; 24(12):. PubMed ID: 37373322
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Diagnosis of lysosomal storage disorders: Gaucher disease.
    Johnson BA; Dajnoki A; Bodamer O
    Curr Protoc Hum Genet; 2014 Jul; 82():17.15.1-17.15.6. PubMed ID: 25042717
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry.
    Zhang XK; Elbin CS; Chuang WL; Cooper SK; Marashio CA; Beauregard C; Keutzer JM
    Clin Chem; 2008 Oct; 54(10):1725-8. PubMed ID: 18719200
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.
    Michelin K; Wajner A; de Souza FT; de Mello AS; Burin MG; Pereira ML; Pires RF; Giugliani R; Coelho JC
    Am J Med Genet A; 2005 Jul; 136(1):58-62. PubMed ID: 15937950
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Detection of glucosylsphingosine in dried blood spots for diagnosis of Gaucher disease by LC-MS/MS.
    Tang C; Jia X; Tang F; Liu S; Jiang X; Zhao X; Sheng H; Peng M; Liu L; Huang Y
    Clin Biochem; 2021 Jan; 87():79-84. PubMed ID: 33188770
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.
    De Jesus VR; Zhang XK; Keutzer J; Bodamer OA; Mühl A; Orsini JJ; Caggana M; Vogt RF; Hannon WH
    Clin Chem; 2009 Jan; 55(1):158-64. PubMed ID: 18988750
    [TBL] [Abstract][Full Text] [Related]  

  • 51. A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders.
    Rappaport J; Manthe RL; Solomon M; Garnacho C; Muro S
    Mol Pharm; 2016 Feb; 13(2):357-368. PubMed ID: 26702793
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Gaucher disease and other storage disorders.
    Grabowski GA
    Hematology Am Soc Hematol Educ Program; 2012; 2012():13-8. PubMed ID: 23233555
    [TBL] [Abstract][Full Text] [Related]  

  • 53. [Lysosomal storage diseases: A brief summary].
    Bornemann A; Harzer K
    Pathologe; 2015 Sep; 36(5):485-93. PubMed ID: 26314267
    [TBL] [Abstract][Full Text] [Related]  

  • 54. The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
    Wasserstein MP; Caggana M; Bailey SM; Desnick RJ; Edelmann L; Estrella L; Holzman I; Kelly NR; Kornreich R; Kupchik SG; Martin M; Nafday SM; Wasserman R; Yang A; Yu C; Orsini JJ
    Genet Med; 2019 Mar; 21(3):631-640. PubMed ID: 30093709
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions.
    Yañez MJ; Marín T; Balboa E; Klein AD; Alvarez AR; Zanlungo S
    Biochim Biophys Acta Mol Basis Dis; 2020 Oct; 1866(10):165875. PubMed ID: 32522631
    [TBL] [Abstract][Full Text] [Related]  

  • 56. The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey.
    Mengel E; Gaedeke J; Gothe H; Krupka S; Lachmann A; Reinke J; Ohlmeier C
    PLoS One; 2020; 15(12):e0244279. PubMed ID: 33382737
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Triplex tandem mass spectrometry assays for the screening of 3 lysosomal storage disorders in a Korean population.
    Cho SE; Kwak JR; Lee H; Seo DH; Song J
    Clin Chim Acta; 2016 Feb; 454():20-7. PubMed ID: 26707915
    [TBL] [Abstract][Full Text] [Related]  

  • 58. New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry.
    la Marca G; Casetta B; Malvagia S; Guerrini R; Zammarchi E
    Anal Chem; 2009 Aug; 81(15):6113-21. PubMed ID: 19555116
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Lysosomal storage disorders in the newborn.
    Staretz-Chacham O; Lang TC; LaMarca ME; Krasnewich D; Sidransky E
    Pediatrics; 2009 Apr; 123(4):1191-207. PubMed ID: 19336380
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency.
    Wang NL; Lin J; Chen L; Lu Y; Xie XB; Abuduxikuer K; Wang JS
    BMC Gastroenterol; 2022 May; 22(1):227. PubMed ID: 35534800
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.