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Volumn 29, Issue 3, 2004, Pages 440-442

Biopsy-proven alpha-glucosidase deficiency with normal lymphocyte enzyme activity

Author keywords

Alpha glucosidase deficiency; Clinical enzymology; Lysosomal storage disease; Muscular dystrophy; Myopathy

Indexed keywords

ALPHA GLUCOSIDASE; CREATINE KINASE; GLUCAN 1,4 ALPHA GLUCOSIDASE;

EID: 1442279904     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.10555     Document Type: Article
Times cited : (5)

References (7)
  • 2
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    • White blood cells and the diagnosis of α-glucosidase deficiency
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    • (1980) Pediatr Res , vol.14 , pp. 342-344
    • Dreyfus, J.C.1    Poenaru, L.2
  • 3
    • 0029079416 scopus 로고
    • Clinical variability in adult-onset acid maltase deficiency: Report of affected sibs and review of the literature
    • Felice KJ, Alessi AG, Grunnet ML. Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature. Medicine 1995;74:131-135.
    • (1995) Medicine , vol.74 , pp. 131-135
    • Felice, K.J.1    Alessi, A.G.2    Grunnet, M.L.3
  • 4
    • 0001448360 scopus 로고
    • Glycogen storage disease type II: Acid α-glucosidase (acid maltase) deficiency
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors New York: McGraw-Hill
    • Hirschhorn R. Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease, 7th ed. New York: McGraw-Hill; 1995. p 2443-2464.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease, 7th Ed. , pp. 2443-2464
    • Hirschhorn, R.1
  • 5
    • 0017345356 scopus 로고
    • Residual acid maltase activity in late-onset acid maltase deficiency
    • Mehler M, DiMauro S. Residual acid maltase activity in late-onset acid maltase deficiency. Neurology 1977;27:178-184.
    • (1977) Neurology , vol.27 , pp. 178-184
    • Mehler, M.1    DiMauro, S.2
  • 6
    • 0019138135 scopus 로고    scopus 로고
    • Apparent normal leukocyte acid maltase activity in glycogen storage disease type II (Pompe's disease)
    • Potter JL, Robinson HB, Kramer JD, Schafer IA. Apparent normal leukocyte acid maltase activity in glycogen storage disease type II (Pompe's disease). Clin Chem 26:1914-1915.
    • Clin Chem , vol.26 , pp. 1914-1915
    • Potter, J.L.1    Robinson, H.B.2    Kramer, J.D.3    Schafer, I.A.4
  • 7
    • 0019420054 scopus 로고
    • Late-onset acid maltase deficiency-biochemical studies of leukocytes
    • Shanske S, DiMauro S. Late-onset acid maltase deficiency-biochemical studies of leukocytes. J Neurol Sci 1981;50:57-62.
    • (1981) J Neurol Sci , vol.50 , pp. 57-62
    • Shanske, S.1    DiMauro, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.