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 *

73 related articles for article (PubMed ID: 7596481)

  • 1. [Pseudodeficiency of lysosomal enzymes].
    Czartoryska B
    Neurol Neurochir Pol; 1995; 29(1):7-15. PubMed ID: 7596481
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Lysosome enzyme pseudodeficiency].
    Bronner P; Rodier G; Cohen E; Derouiche F; Boulay C; Courtois S
    Rev Neurol (Paris); 2000 Nov; 156(11):1005-12. PubMed ID: 11119053
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.
    Olkhovych NV; Gorovenko NG
    Ukr Biochem J; 2016; 88(5):96-106. PubMed ID: 29235819
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Deficiency of lysosomal hydrolases in apparently healthy individuals.
    Zlotogora J; Bach G
    Am J Med Genet; 1983 Jan; 14(1):73-80. PubMed ID: 6131608
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Case records of the Massachusetts General Hospital. Case 14-2014. An 11-month-old girl with developmental delay.
    Krishnamoorthy KS; Eichler F; Rapalino O; Frosch MP
    N Engl J Med; 2014 May; 370(19):1830-41. PubMed ID: 24806163
    [No Abstract]   [Full Text] [Related]  

  • 6. [Recent advances in sphingolipidosis research].
    Tamai Y; Kojima H
    Tanpakushitsu Kakusan Koso; 1990 May; 35(7 Suppl):1291-303. PubMed ID: 1972585
    [No Abstract]   [Full Text] [Related]  

  • 7. Sphingolipidoses.
    Sandhoff K
    J Clin Pathol Suppl (R Coll Pathol); 1974; 8():94-105. PubMed ID: 4157247
    [No Abstract]   [Full Text] [Related]  

  • 8. The biochemical basis of gangliosidoses.
    Sandhoff K; Conzelmann E
    Neuropediatrics; 1984 Sep; 15 Suppl():85-92. PubMed ID: 6242704
    [No Abstract]   [Full Text] [Related]  

  • 9. Tay-Sachs disease and normal cerebellar cells in culture: elevated levels of lysosomal enzymes in Tay-Sachs disease cells.
    Hoffman LM; Brooks SE; Schneck L
    J Neurosci Res; 1982; 8(1):49-55. PubMed ID: 6816949
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Leukocyte sonicates as a source for both enzyme assay and DNA amplification for mutational analysis of certain lysosomal disorders.
    Louie E; Rafi MA; Wenger DA
    Clin Chim Acta; 1991 May; 199(1):7-15. PubMed ID: 1682071
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Screening patients referred to a metabolic clinic for lysosomal storage disorders.
    Fuller M; Tucker JN; Lang DL; Dean CJ; Fietz MJ; Meikle PJ; Hopwood JJ
    J Med Genet; 2011 Jun; 48(6):422-5. PubMed ID: 21415080
    [TBL] [Abstract][Full Text] [Related]  

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

  • 13. Identification of an active acidic residue in the catalytic site of beta-hexosaminidase.
    Tse R; Vavougios G; Hou Y; Mahuran DJ
    Biochemistry; 1996 Jun; 35(23):7599-607. PubMed ID: 8652542
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Pseudodeficiency of lysosomal enzymes].
    Czartoryska B
    Pediatr Pol; 1995 Oct; 70(10):857-63. PubMed ID: 8649933
    [No Abstract]   [Full Text] [Related]  

  • 15. Arylsulfatase A pseudodeficiency incidence in Turkey.
    Emre S; Topçu M; Terzioğlu M; Renda Y
    Turk J Pediatr; 2000; 42(2):115-7. PubMed ID: 10936976
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
    Myerowitz R
    Hum Mutat; 1997; 9(3):195-208. PubMed ID: 9090523
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Schindler disease/Kanzaki disease [alpha-N-acetylgalactosaminidase deficiency]].
    Kanzaki T
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):372-4. PubMed ID: 9645085
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. Brain lysosomal enzymes in generalized gangliosidosis and metachromatic leukodystrophy.
    Den Tandt WR; Hooghwinkel GJ
    Acta Neurol (Napoli); 1980 Feb; 2(1):10-4. PubMed ID: 6156575
    [No Abstract]   [Full Text] [Related]  

  • 20. Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
    Akli S; Guidotti JE; Vigne E; Perricaudet M; Sandhoff K; Kahn A; Poenaru L
    Gene Ther; 1996 Sep; 3(9):769-74. PubMed ID: 8875224
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.