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Journal Abstract Search

131 related items for PubMed ID: 8518524

  • 21. Aspartylglucosaminuria among Palestinian Arabs.
    Zlotogora J, Ben-Neriah Z, Abu-Libdeh BY, Sury V, Zeigler M.
    J Inherit Metab Dis; 1997 Nov; 20(6):799-802. PubMed ID: 9427148
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  • 22. High prevalence of aspartylglycosaminuria among school-age children in eastern Finland.
    Mononen T, Mononen I, Matilainen R, Airaksinen E.
    Hum Genet; 1991 Jul; 87(3):266-8. PubMed ID: 1864600
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  • 23. Liquid-chromatographic detection of aspartylglycosaminuria.
    Mononen T, Parviainen M, Penttilä I, Mononen I.
    Clin Chem; 1986 Mar; 32(3):501-2. PubMed ID: 3948393
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  • 24. Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics.
    Gehler J, Sewell AC, Becker C, Spranger J, Hartmann J.
    J Inherit Metab Dis; 1981 Mar; 4(4):229-30. PubMed ID: 6796777
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  • 25. Detection of aspartylglycosaminuria using urine specimens recovered from absorbent filter paper.
    Kaartinen V, Mononen I.
    Clin Chim Acta; 1990 Oct 31; 191(1-2):15-20. PubMed ID: 2073730
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  • 28. Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.
    Tollersrud OK, Nilssen O, Tranebjaerg L, Borud O.
    J Med Genet; 1994 May 31; 31(5):360-3. PubMed ID: 8064811
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  • 31. Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease.
    Määttä A, Järveläinen HT, Nelimarkka LO, Penttinen RP.
    Biochim Biophys Acta; 1994 Feb 22; 1225(3):264-70. PubMed ID: 8312372
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  • 34. Excessive infantile growth and early pubertal growth spurt: typical features in patients with aspartylglycosaminuria.
    Arvio P, Arvio M, Marttinen E, Sipilä I, Pirinen S.
    J Pediatr; 1999 Jun 22; 134(6):761-3. PubMed ID: 10356147
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  • 37. 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 Jun 22; 5(4):318-26. PubMed ID: 7627186
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  • 39. Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay.
    Delahunty CM, Ankener W, Brainerd S, Nickerson DA, Mononen IT.
    Clin Chem; 1995 Jan 22; 41(1):59-61. PubMed ID: 7813081
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  • 40. Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening.
    Simell O, Sipilä I, Autio S.
    Clin Chim Acta; 1983 Sep 30; 133(2):227-32. PubMed ID: 6627685
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