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Volumn 52, Issue 4, 1999, Pages 851-853

A diagnostic protocol for adult-onset glycogen storage disease type II

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; GLUCAN 1,4 ALPHA GLUCOSIDASE;

EID: 0033541105     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.4.851     Document Type: Article
Times cited : (76)

References (10)
  • 1
    • 0001448360 scopus 로고
    • Glycogen storage disease type II: Acid a-glucosidase (acid maltase) deficiency
    • Scriver CR, Beaudet AL, Sly W, Valle E, eds. New York: McGraw-Hill
    • Hirschhorn R. Glycogen storage disease type II: acid a-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL, Sly W, Valle E, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1994:2443-2464.
    • (1994) The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. , pp. 2443-2464
    • Hirschhorn, R.1
  • 2
    • 0029084459 scopus 로고
    • Genotype-phenotype correlation in adult-onset acid maltase deficiency
    • Wokke JHJ, Ausems MGEM, Van den Boogaard MJH, et al. Genotype-phenotype correlation in adult-onset acid maltase deficiency. Ann Neurol 1995;38:450-454.
    • (1995) Ann Neurol , vol.38 , pp. 450-454
    • Wokke, J.H.J.1    Ausems, M.2    Van Den Boogaard, M.J.H.3
  • 4
    • 0027300620 scopus 로고
    • Respiratory insufficiency in adult-type acid maltase deficiency
    • Moufarrej NA, Bertorini TE. Respiratory insufficiency in adult-type acid maltase deficiency. South Med J 1993;86:560-567.
    • (1993) South Med J , vol.86 , pp. 560-567
    • Moufarrej, N.A.1    Bertorini, T.E.2
  • 5
    • 34250489053 scopus 로고
    • Uber die eigenschaften eines neuen chromogens für die blutzuckerbestimmung nach der GOD/ POD-methode
    • Werner W, Wielinger H. Uber die eigenschaften eines neuen chromogens für die blutzuckerbestimmung nach der GOD/ POD-methode. Z Anal Chemie 1970;252:224-228.
    • (1970) Z Anal Chemie , vol.252 , pp. 224-228
    • Werner, W.1    Wielinger, H.2
  • 6
    • 0021049165 scopus 로고
    • The constellation of adult acid maltase deficiency: Clinical, electrophysiologic, and morphologic features
    • McComas CF, Schochet SS, Morris HH, Romansky SG, Gutmann L. The constellation of adult acid maltase deficiency: clinical, electrophysiologic, and morphologic features. Clin Neuropathol 1983;2:182-187.
    • (1983) Clin Neuropathol , vol.2 , pp. 182-187
    • McComas, C.F.1    Schochet, S.S.2    Morris, H.H.3    Romansky, S.G.4    Gutmann, L.5
  • 8
    • 0025091711 scopus 로고
    • Identification of the base pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA2) and transient gene expression in deficient cells
    • Martiniuk F, Bodkin M, Tzall S, Hirschhorn R. Identification of the base pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA2) and transient gene expression in deficient cells. Am J Hum Genet 1990;47:440-445.
    • (1990) Am J Hum Genet , vol.47 , pp. 440-445
    • Martiniuk, F.1    Bodkin, M.2    Tzall, S.3    Hirschhorn, R.4
  • 9
    • 0016690547 scopus 로고
    • Acid α-glucosidase: A new polymorphism in man demonstrable by 'affinity' electrophoresis
    • Swallow DM, Corney G, Harris H, Hirschhorn R. Acid α-glucosidase: a new polymorphism in man demonstrable by 'affinity' electrophoresis. Ann Hum Genet 1975;38:391-406.
    • (1975) Ann Hum Genet , vol.38 , pp. 391-406
    • Swallow, D.M.1    Corney, G.2    Harris, H.3    Hirschhorn, R.4
  • 10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.