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Journal Abstract Search

111 related items for PubMed ID: 1272639

  • 1. Enzymatic diagnosis and carrier detection of aspartylglucosaminuria using blood samples.
    Aula P, Raivio K, Autio S.
    Pediatr Res; 1976 Jun; 10(6):625-9. PubMed ID: 1272639
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  • 2. Prenatal diagnosis and fetal pathology of aspartylglucosaminuria.
    Aula P, Rapola J, von Koskull H, Ammälä P.
    Am J Med Genet; 1984 Oct; 19(2):359-67. PubMed ID: 6507482
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  • 3. Gaucher disease: accurate identification of asymptomatic French-Canadian carrier using nonlabeled authentic sphingolipid substrate N-palmitoyl dihydroglucocerebroside.
    Choy FY, Bouillon L, Laurin CA.
    Am J Med Genet; 1987 Aug; 27(4):895-905. PubMed ID: 3425599
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  • 5. [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
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  • 8. Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4.
    Grön K, Aula P, Peltonen L.
    Hum Genet; 1990 Jul; 85(2):233-6. PubMed ID: 1973404
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  • 12. Aspartylglucosaminuria in the United States.
    Hreidarsson S, Thomas GH, Valle DL, Stevenson RE, Taylor H, McCarty J, Coker SB, Green WR.
    Clin Genet; 1983 Jun; 23(6):427-35. PubMed ID: 6883788
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  • 15. Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.
    Ikonen E, Peltonen L.
    Hum Mutat; 1992 Jun; 1(5):361-5. PubMed ID: 1301945
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  • 16. Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome.
    Liebaers I, Neufeld E.
    Pediatr Res; 1976 Aug; 10(8):733-6. PubMed ID: 821034
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  • 19. 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
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  • 20. Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts.
    Enomaa N, Heiskanen T, Halila R, Sormunen R, Seppälä R, Vihinen M, Peltonen L.
    Biochem J; 1992 Sep 01; 286 ( Pt 2)(Pt 2):613-8. PubMed ID: 1530592
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