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 *

128 related articles for article (PubMed ID: 1366100)

  • 1. [Molecular genetics of aspartylglucosaminuria].
    Palotie L; Ikonen E; Syvänen AC; Halila R; Enomaa N; Heiskanen T; Grön K; Aula P
    Duodecim; 1991; 107(23-24):1916-25. PubMed ID: 1366100
    [No Abstract]   [Full Text] [Related]  

  • 2. Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse.
    Peltola M; Kyttälä A; Heinonen O; Rapola J; Paunio T; Revah F; Peltonen L; Jalanko A
    Gene Ther; 1998 Oct; 5(10):1314-21. PubMed ID: 9930336
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse.
    Virta S; Rapola J; Jalanko A; Laine M
    J Gene Med; 2006 Jun; 8(6):699-706. PubMed ID: 16518877
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.
    Ikonen E; Peltonen L
    Hum Mutat; 1992; 1(5):361-5. PubMed ID: 1301945
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Aspartylglucosaminuria: a point mutation as a cause of mental defect].
    Ikonen E; Palotie L
    Duodecim; 1994; 110(7):667-73. PubMed ID: 8542821
    [No Abstract]   [Full Text] [Related]  

  • 6. Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
    Laitinen A; Hietala M; Haworth JC; Schroeder ML; Seargeant LE; Greenberg CR; Aula P
    Clin Genet; 1997 Mar; 51(3):174-8. PubMed ID: 9137882
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.
    Isoniemi A; Hietala M; Aula P; Jalanko A; Peltonen L
    Hum Mutat; 1995; 5(4):318-26. PubMed ID: 7627186
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.
    Jalanko A; Tenhunen K; McKinney CE; LaMarca ME; Rapola J; Autti T; Joensuu R; Manninen T; Sipilä I; Ikonen S; Riekkinen P; Ginns EI; Peltonen L
    Hum Mol Genet; 1998 Feb; 7(2):265-72. PubMed ID: 9425233
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Bone-marrow transplantation in aspartylglucosaminuria.
    Autti T; Santavuori P; Raininko R; Renlund M; Rapola J; Saarinen-Pihkala U
    Lancet; 1997 May; 349(9062):1366-7. PubMed ID: 9149703
    [No Abstract]   [Full Text] [Related]  

  • 10. [Disorders of glycoprotein degradation].
    Yoshida K; Yanagisawa N
    Nihon Rinsho; 1995 Dec; 53(12):2973-81. PubMed ID: 8577045
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.
    Saarela J; von Schantz C; Peltonen L; Jalanko A
    Hum Mutat; 2004 Oct; 24(4):350-1. PubMed ID: 15365992
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Aspartylglucosaminuria].
    Yamaguchi S
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):466-8. PubMed ID: 9645112
    [No Abstract]   [Full Text] [Related]  

  • 13. Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype.
    Engelen J; Hamers A; Schrander-Stumpel C; Mulder H; Poorthuis B
    Cytogenet Cell Genet; 1992; 60(3-4):208-9. PubMed ID: 1505217
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria.
    Arvio P; Arvio M; Kero M; Pirinen S; Lukinmaa PL
    J Med Genet; 1999 May; 36(5):398-404. PubMed ID: 10353787
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria.
    Banning A; Schiff M; Tikkanen R
    Biochim Biophys Acta Mol Basis Dis; 2018 Mar; 1864(3):668-675. PubMed ID: 29247835
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer.
    Enomaa N; Danos O; Peltonen L; Jalanko A
    Hum Gene Ther; 1995 Jun; 6(6):723-31. PubMed ID: 7548272
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria.
    Pande S; Bizilj W; Guo HC
    FEBS Lett; 2018 Aug; 592(15):2550-2561. PubMed ID: 29993127
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.
    Tollersrud OK; Nilssen O; Tranebjaerg L; Borud O
    J Med Genet; 1994 May; 31(5):360-3. PubMed ID: 8064811
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Reduction in head size in patients with aspartylglucosaminuria.
    Arvio M; Arvio P; Hurmerinta K; Pirinen S; Sillanpää M
    Acta Neurol Scand; 2005 Nov; 112(5):335-7. PubMed ID: 16218917
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [A family with two children diagnosed with aspartylglucosaminuria-case report and literature review].
    Liu Y; Zou L; Meng Y; Zhang Y; Shi X; Ju J; Yang G; Hu L; Chen X
    Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):455-9. PubMed ID: 25190167
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.