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Volumn 36, Issue 4, 1996, Pages 540-543

Nine cases of debrancher deficiency (glycogen storage disease type III) presenting muscle weakness - Study on clinicobiochemical analysis

Author keywords

cardiac involvement; debrancher deficiency; glycogen disease type III; muscle symptom

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 3; HEART MUSCLE; HUMAN; MALE; MUSCLE WEAKNESS; PRESCHOOL CHILD; PROGNOSIS;

EID: 0029818067     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (10)
  • 1
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    • Van Hoof F, Hers HG : The subgroups of type III glycogenosis. Eur J Biochem 2 : 265-70, 1967
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    • Van Hoof, F.1    Hers, H.G.2
  • 2
    • 0014139817 scopus 로고
    • The determination of Amylo-1, 6-glucosidase
    • Hers HG, Verhue W, Van Hoof F : The determination of Amylo-1, 6-glucosidase. Eur J Biochem 2 : 257-264, 1967
    • (1967) Eur J Biochem , vol.2 , pp. 257-264
    • Hers, H.G.1    Verhue, W.2    Van Hoof, F.3
  • 3
    • 0018423953 scopus 로고
    • Debrancher deficiency : Neuromuscular disorder in 5 adults
    • DiMauro S, Hartwig GA, Hays A, et al : Debrancher deficiency : neuromuscular disorder in 5 adults. Ann Neurol 5 : 422-36, 1974
    • (1974) Ann Neurol , vol.5 , pp. 422-436
    • DiMauro, S.1    Hartwig, G.A.2    Hays, A.3
  • 4
    • 9444222259 scopus 로고    scopus 로고
    • Japanese source
  • 5
    • 0027049711 scopus 로고
    • Glycogen storage disease type III (glycogen debranching enzyme deficiency) : Correlation of biochemical defects with myopathy and cardiomyopathy
    • Coleman RA, Winter HS, Wolf B, et al : Glycogen storage disease type III (glycogen debranching enzyme deficiency) : correlation of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med 116 : 896-900, 1992
    • (1992) Ann Intern Med , vol.116 , pp. 896-900
    • Coleman, R.A.1    Winter, H.S.2    Wolf, B.3
  • 6
    • 0021219367 scopus 로고
    • Clinical varieties of neuromuscular disease in debrancher deficiency
    • Cornelio F, Bresolin N, Singer PA, et al : Clinical varieties of neuromuscular disease in debrancher deficiency. Arch Neurol 41 : 1027-32, 1984
    • (1984) Arch Neurol , vol.41 , pp. 1027-1032
    • Cornelio, F.1    Bresolin, N.2    Singer, P.A.3
  • 7
    • 0027057809 scopus 로고
    • Glycogen debranching enzyme deficiency : Long-term study of serum enzyme activities and clinical features
    • Coleman RA, Winter HS, Wolf B, et al : Glycogen debranching enzyme deficiency : long-term study of serum enzyme activities and clinical features. J Inher Metab Dis 15 : 869-81, 1992
    • (1992) J Inher Metab Dis , vol.15 , pp. 869-881
    • Coleman, R.A.1    Winter, H.S.2    Wolf, B.3
  • 9
    • 0026589843 scopus 로고
    • Glycogen storage disease type III with muscle involvement: Reappraisal of phenotypic variability and prognosis
    • Momoi T, Sano H, Yamanaka C, et al : Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis. Am J Med Genet 42: 696-699, 1992
    • (1992) Am J Med Genet , vol.42 , pp. 696-699
    • Momoi, T.1    Sano, H.2    Yamanaka, C.3
  • 10
    • 0026804629 scopus 로고
    • Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme
    • Yang BZ, Ding JH, Enghild JJ, et al : Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme. J Biol Chem 13 : 9294-9299, 1992
    • (1992) J Biol Chem , vol.13 , pp. 9294-9299
    • Yang, B.Z.1    Ding, J.H.2    Enghild, J.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.