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Volumn 26, Issue 1, 2007, Pages 72-74

Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency

Author keywords

AGL; Glycogen storage disease; Metabolic myopathy

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; GLYCOGEN; GLYCOGEN DEBRANCHING ENZYME;

EID: 34548637364     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (50)

References (11)
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  • 2
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    • Glycogen storage disease; report of a case with abnormal glycogen structure in liver and skeletal muscle
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    • Haagsma, E.B.1    Smit, G.P.2    Niezen-Koning, K.E.3
  • 5
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    • Preparation and properties of the glycogen-debranching enzyme from rabbit liver
    • Gordon RB, Brown DH, Brown BI. Preparation and properties of the glycogen-debranching enzyme from rabbit liver. Biochim Biophys Acta 1972;289:97-107.
    • (1972) Biochim Biophys Acta , vol.289 , pp. 97-107
    • Gordon, R.B.1    Brown, D.H.2    Brown, B.I.3
  • 6
    • 0016763295 scopus 로고
    • Debranching enzyme from rabbit skeletal muscle; evidence for the location of two active centres on a single polypeptide chain
    • Bates EJ, Heaton GM, Taylor C, Kernohan JC, Cohen P. Debranching enzyme from rabbit skeletal muscle; evidence for the location of two active centres on a single polypeptide chain. FEBS Lett 1975;58:181-5.
    • (1975) FEBS Lett , vol.58 , pp. 181-185
    • Bates, E.J.1    Heaton, G.M.2    Taylor, C.3    Kernohan, J.C.4    Cohen, P.5
  • 7
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    • Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle
    • Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J Clin Invest 1996;98:352-7.
    • (1996) J Clin Invest , vol.98 , pp. 352-357
    • Shen, J.1    Bao, Y.2    Liu, H.M.3    Lee, P.4    Leonard, J.V.5    Chen, Y.T.6
  • 8
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    • Gene expression profiling in dysferlinopathies using a dedicated muscle microarray
    • Campanaro S, Romualdi C, Fanin M, et al. Gene expression profiling in dysferlinopathies using a dedicated muscle microarray. Hum Mol Genet 2002;11:3283-98.
    • (2002) Hum Mol Genet , vol.11 , pp. 3283-3298
    • Campanaro, S.1    Romualdi, C.2    Fanin, M.3
  • 9
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    • Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa
    • Hadjigeorgiou GM, Comi GP, Bordoni A, et al. Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa. J Inherit Metab Dis 1999;22:762-3.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 762-763
    • Hadjigeorgiou, G.M.1    Comi, G.P.2    Bordoni, A.3
  • 10
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    • Molecular characterization of GSD III subjects and identification of six novel mutations in AGL
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    • (2002) Hum Mutat , vol.20 , pp. 480
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  • 11
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    • Myopathy and growth failure in debrancher enzyme deficiency: Improvement with high-protein nocturnal enteral therapy
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    • Slonim, A.E.1    Coleman, R.A.2    Moses, W.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.