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Volumn 27, Issue 2, 2001, Pages 173-181

Co-existence of lysosomal storage diseases in a consanguineous family

Author keywords

Aspartylglucosaminuria (AGU); Consanguinity; Fabry disease

Indexed keywords

DRUG DERIVATIVE; N ACETYLGLUCOSAMINE; N ACETYLGLUCOSAMINYLASPARAGINE; N-ACETYLGLUCOSAMINYLASPARAGINE;

EID: 0035286358     PISSN: 03051862     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2214.2001.00165.x     Document Type: Article
Times cited : (5)

References (10)
  • 1
    • 0027193750 scopus 로고
    • Follow-up in patients with aspartylglucosaminuria. Part I: The course of intellectual functions
    • Arvio, M. (1993a) Follow-up in patients with aspartylglucosaminuria. Part I: The course of intellectual functions. Acta Paediatrica, 82, 469-471.
    • (1993) Acta Paediatrica , vol.82 , pp. 469-471
    • Arvio, M.1
  • 2
    • 0027324416 scopus 로고
    • Follow-up in patients with aspartylglucosaminuria. Part II: Adaptive skills
    • Arvio, M. (1993b) Follow-up in patients with aspartylglucosaminuria. Part II: Adaptive skills. Acta Paediatrica, 82, 590-594.
    • (1993) Acta Paediatrica , vol.82 , pp. 590-594
    • Arvio, M.1
  • 3
    • 0027253317 scopus 로고
    • Early clinical symptoms and incidence of aspartylglucosaminuria
    • Arvio, M., Autio, S. & Louhiala, P. (1993a) Early clinical symptoms and incidence of aspartylglucosaminuria. Acta Paediatrica, 82, 587-589.
    • (1993) Acta Paediatrica , vol.82 , pp. 587-589
    • Arvio, M.1    Autio, S.2    Louhiala, P.3
  • 8
    • 0028269904 scopus 로고
    • Molecular basis of Fabry disease: Mutations and polymorphisms in the human alpha-galactosidase A gene
    • Eng, C. M. & Desnick, R. J. (1994) Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Human Mutations, 3, 103-111.
    • (1994) Human Mutations , vol.3 , pp. 103-111
    • Eng, C.M.1    Desnick, R.J.2
  • 10
    • 17944364408 scopus 로고
    • Lysosomal storage diseases
    • ed. J. B. Holton, Churchill Livingstone, Edinburgh
    • Pennock, C. A. (1994) Lysosomal storage diseases. In: The Inherited Metabolic Diseases, 2nd edn (ed. J. B. Holton), pp. 213-235, Churchill Livingstone, Edinburgh.
    • (1994) The Inherited Metabolic Diseases, 2nd Edn , pp. 213-235
    • Pennock, C.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.