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Volumn 324, Issue 1-2, 2013, Pages 179-182

Acute but transient neurological deterioration revealing adult polyglucosan body disease

Author keywords

Adult polyglucosan body disease (APBD); Branching enzyme deficiency; Glycogen storage disease type IV; Leukoencephalopathy

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME; NOTCH3 RECEPTOR;

EID: 84870891387     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.10.015     Document Type: Article
Times cited : (13)

References (9)
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    • A 63-year-old woman with urinary incontinence and progressive gait disorder
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    • (2008) Muscle Nerve , vol.37 , pp. 530-536
    • Massa, R.1    Bruno, C.2    Martorana, A.3    De Stefano, N.4    Van Diggelen, O.P.5    Federico, A.6
  • 5
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    • Adult polyglucosan body disease: Case description of an expanding genetic and clinical syndrome
    • C.J. Klein, C.J. Boes, J.E. Chapin, C.D. Lynch, N.G. Campeau, and P.G. Dyck Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome Muscle Nerve 29 2004 323 328
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    • Klein, C.J.1    Boes, C.J.2    Chapin, J.E.3    Lynch, C.D.4    Campeau, N.G.5    Dyck, P.G.6
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    • Novel missense mutations in the glycogen\branching enzyme gene in adult polyglucosan body disease
    • F. Ziemssen, E. Sindern, J.M. Schroder, Y.S. Shin, J. Zange, and M.W. Kilimann Novel missense mutations in the glycogen\branching enzyme gene in adult polyglucosan body disease Ann Neurol 47 2000 536 540
    • (2000) Ann Neurol , vol.47 , pp. 536-540
    • Ziemssen, F.1    Sindern, E.2    Schroder, J.M.3    Shin, Y.S.4    Zange, J.5    Kilimann, M.W.6
  • 7
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    • Glycogen metabolism
    • E. Benarroch Glycogen metabolism Neurology 74 2010 919 923
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  • 8
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    • Hereditary branching enzyme dysfunction in adult polyglucosan body disease: A possible metabolic cause in two patients
    • A. Lossos, V. Barash, D. Soffer, Z. Argov, M. Gomori, and Z. Ben-Nariah Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients Ann Neurol 30 1991 655 662
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    • Lossos, A.1    Barash, V.2    Soffer, D.3    Argov, Z.4    Gomori, M.5    Ben-Nariah, Z.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.