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Volumn 30, Issue 5, 1991, Pages 655-662

Hereditary branching enzyme dysfunction in adult polyglucosan body disease: A possible metabolic cause in two patients

Author keywords

[No Author keywords available]

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME;

EID: 0025946765     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.410300505     Document Type: Article
Times cited : (79)

References (42)
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  • 10
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    • (1985) Pediatr Res , vol.19 , pp. 28-32
    • Gutman, A1    Barash, V2    Schramm, H3
  • 11
    • 0020615097 scopus 로고
    • Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease
    • (1983) Biochem Biophys Res Commun , vol.111 , pp. 636-643
    • Brown, DH1    Brown, BI2
  • 30
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    • Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease
    • (1989) Am J Hum Genet , vol.44 , pp. 378-381
    • Brown, BI1    Brown, DH2
  • 31
    • 0015042014 scopus 로고
    • Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection
    • (1971) J Pediatr , vol.78 , pp. 638-642
    • Howell, RR1    Kaback, MM2    Brown, BI3
  • 34
  • 38
    • 0014349426 scopus 로고
    • Type IV glycogenosis. Patient with absence of a branching enzyme α‐1,4‐glucan:α‐1,4‐glucan 6‐glycosyl transferase
    • (1968) Lab Invest , vol.19 , pp. 546-557
    • Reed, GR1    Dixon, JFP2    Neustein, HB3
  • 41
    • 0016818966 scopus 로고
    • Glycogen metabolism and glycogen‐storage diseases
    • (1975) Physiol Rev , vol.55 , pp. 609-658
    • Huijing, F1
  • 42
    • 0024227110 scopus 로고
    • Adult polyglucosan body myopathy with subclinical peripheral neuropathy: case report and review of diseases associated with polyglucosan body accumlation
    • (1988) Clin Neuropathol , vol.7 , pp. 271-279
    • Weis, J1    Schroder, JM2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.