메뉴 건너뛰기




Volumn 20, Issue 6, 1997, Pages 799-802

Aspartylglucosaminuria among Palestinian Arabs

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSAMINE DERIVATIVE; N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE;

EID: 0030825912     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005371802085     Document Type: Article
Times cited : (7)

References (9)
  • 1
    • 0016316973 scopus 로고
    • Detection of heterozygotes for aspartylglucosaminidase in cultured fibroblasts
    • Aula P, Autio S, Raivio K, Manto V (1974) Detection of heterozygotes for aspartylglucosaminidase in cultured fibroblasts. Hum Genet 25: 307-314.
    • (1974) Hum Genet , vol.25 , pp. 307-314
    • Aula, P.1    Autio, S.2    Raivio, K.3    Manto, V.4
  • 2
    • 0015639177 scopus 로고
    • Aspartylglucosaminuria (AGU): Further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients
    • Autio S, Visakorpi JK, Jarvinen H (1973) Aspartylglucosaminuria (AGU): further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients. Ann Clin Res 5: 149-155.
    • (1973) Ann Clin Res , vol.5 , pp. 149-155
    • Autio, S.1    Visakorpi, J.K.2    Jarvinen, H.3
  • 3
    • 0027507885 scopus 로고
    • Disease gene mapping in isolated human populations: The example of Finland
    • de la Chapelle A (1993) Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 30: 857-865.
    • (1993) J Med Genet , vol.30 , pp. 857-865
    • De La Chapelle, A.1
  • 4
    • 0016640375 scopus 로고
    • Oligosaccharides in urine of patients with glycoprotein
    • Humbel R, Collart M (1975) Oligosaccharides in urine of patients with glycoprotein. Clin Chim Acta 60: 143-145.
    • (1975) Clin Chim Acta , vol.60 , pp. 143-145
    • Humbel, R.1    Collart, M.2
  • 5
    • 0027018402 scopus 로고
    • Mutations causing aspartylglucosaminuria (AGU): A lysosomal accumulation disease
    • Ikonen E, Peltonen L (1992) Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease. Hum Mutat 1: 361-365.
    • (1992) Hum Mutat , vol.1 , pp. 361-365
    • Ikonen, E.1    Peltonen, L.2
  • 6
    • 0026089364 scopus 로고
    • Aspartylglucosaminuria cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease
    • Ikonen E, Baunann M, Gron K, et al (1991) Aspartylglucosaminuria cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J 10: 51-58.
    • (1991) EMBO J , vol.10 , pp. 51-58
    • Ikonen, E.1    Baunann, M.2    Gron, K.3
  • 7
    • 0020417013 scopus 로고
    • Review: Aspartylglycosaminuria: an inborn error of glycoprotein catabolism
    • Maury CPJ (1982) Review: aspartylglycosaminuria: an inborn error of glycoprotein catabolism. J Inher Metab Dis 5: 192-196.
    • (1982) J Inher Metab Dis , vol.5 , pp. 192-196
    • Maury, C.P.J.1
  • 8
    • 84985251643 scopus 로고
    • Eleven new cases of aspartylglucosaminuria
    • Palo J, Mattsson K (1970) Eleven new cases of aspartylglucosaminuria. J Ment Defic Res 14: 168-173.
    • (1970) J Ment Defic Res , vol.14 , pp. 168-173
    • Palo, J.1    Mattsson, K.2
  • 9
    • 0029998354 scopus 로고    scopus 로고
    • Active-site disease mutation Ser72Pro in human lysosomal aspartylglucosaminidase: Abnormal intracellular processing and evidence for extracellular activation
    • Peltola M, Tikkanen R, Peltonen L, Jalanko A (1996) Active-site disease mutation Ser72Pro in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation. Hum Mol Genet 5: 737-743.
    • (1996) Hum Mol Genet , vol.5 , pp. 737-743
    • Peltola, M.1    Tikkanen, R.2    Peltonen, L.3    Jalanko, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.