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 *

108 related articles for article (PubMed ID: 20795466)

  • 1. Lysosomal storage disease.
    Khatiwada B; Pokharel A
    JNMA J Nepal Med Assoc; 2009; 48(175):242-5. PubMed ID: 20795466
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Macular cherry-red spot helps diagnose rare storage disorder in an infant with repeated respiratory tract infections: case report.
    Padhi TR; Pattnaik S; Kesarwani S; Das T
    Semin Ophthalmol; 2015 May; 30(3):224-6. PubMed ID: 24124800
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots.
    Gasparotto N; Tomanin R; Frigo AC; Niizawa G; Pasquini E; Blanco M; Donati MA; Keutzer J; Zacchello F; Scarpa M
    Clin Chim Acta; 2009 Apr; 402(1-2):38-41. PubMed ID: 19111682
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [The role of ophthalmological examination in the diagnosis of gangliosidosis GM1].
    Krzywińska-Zdeb E; Gizewska M; Modrzejewska M; Romanowska H; Stecewicz I; Pawłowska A; Tuziak M; Walczak M
    Klin Oczna; 2011; 113(7-9):266-9. PubMed ID: 22256571
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Lysosomal storage diseases presenting as transient or persistent hydrops fetalis.
    Bonduelle M; Lissens W; Goossens A; De Catte L; Foulon W; Denis R; Jauniaux E; Liebaers I
    Genet Couns; 1991; 2(4):227-32. PubMed ID: 1799421
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Lysosomal storage disorders.
    Sheth J; Patel P; Sheth F; Shah R
    Indian Pediatr; 2004 Mar; 41(3):260-5. PubMed ID: 15064514
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Gene diagnosis of lysosomal diseases].
    Suzuki Y
    Nihon Rinsho; 1995 Dec; 53(12):2921-5. PubMed ID: 8577036
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Thin-layer chromatography of urine oligosaccharides in diagnosis of some lysosomal storage disorders].
    Lugowska A; Tylki-Szymańska A; Sawnor-Korszyńska D
    Pediatr Pol; 1995 Oct; 70(10):847-55. PubMed ID: 8649932
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.
    Gort L; Santamaria R; Grinberg D; Vilageliu L; Chabás A
    Clin Genet; 2007 Aug; 72(2):109-11. PubMed ID: 17661814
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lysosomal storage disorders in Thailand: the Siriraj experience.
    Wasant P; Wattanaweeradej S; Raksadawan N; Kolodny EH
    Southeast Asian J Trop Med Public Health; 1995; 26 Suppl 1():54-8. PubMed ID: 8629143
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
    Ramsay SL; Maire I; Bindloss C; Fuller M; Whitfield PD; Piraud M; Hopwood JJ; Meikle PJ
    Mol Genet Metab; 2004 Nov; 83(3):231-8. PubMed ID: 15542394
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
    Silva CM; Severini MH; Sopelsa A; Coelho JC; Zaha A; d'Azzo A; Giugliani R
    Hum Mutat; 1999; 13(5):401-9. PubMed ID: 10338095
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Lysosomal storage diseases as differential diagnoses to rheumatic disorders.
    Michels H; Mengel E
    Curr Opin Rheumatol; 2008 Jan; 20(1):76-81. PubMed ID: 18281861
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Skin biopsy: a useful tool in the diagnosis of lysosomal storage diseases.
    Alroy J; Ucci AA
    Ultrastruct Pathol; 2006; 30(6):489-503. PubMed ID: 17182441
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnosis of feline GM1 gangliosidosis by enzyme assay of cultured conjunctival cells.
    Nowakowski RW; Thompson JN; Baker HJ
    Invest Ophthalmol Vis Sci; 1988 Mar; 29(3):487-90. PubMed ID: 3125124
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
    Santamaria R; Chabás A; Coll MJ; Miranda CS; Vilageliu L; Grinberg D
    Hum Mutat; 2006 Oct; 27(10):1060. PubMed ID: 16941474
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [A case of slowly progressive myoclonus, epilepsy, dementia and muscular weakness over 27 years].
    Minami M; Mizutani T
    No To Shinkei; 2002 May; 54(5):448-55. PubMed ID: 12058417
    [No Abstract]   [Full Text] [Related]  

  • 18. Postnatal and prenatal diagnosis of lysosomal storage diseases in the former Soviet Union.
    Krasnopolskaya XD; Mirenburg TV; Akhunov VS; Voskoboeva EY
    Wien Klin Wochenschr; 1997 Feb; 109(3):74-80. PubMed ID: 9060146
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Screening methods for the diagnosis of lysosomal storage disease].
    Mutoh T; Kuriyama M
    Nihon Rinsho; 1995 Dec; 53(12):2933-7. PubMed ID: 8577038
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hydrops fetalis: lysosomal storage disorders in extremis.
    Stone DL; Sidransky E
    Adv Pediatr; 1999; 46():409-40. PubMed ID: 10645471
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.