메뉴 건너뛰기




Volumn 52, Issue 5, 2011, Pages 621-623

Markedly elevated serum transaminases in glycogen storage disease type III

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; AMYLO 1,6 GLUCOSIDASE; ASPARTATE AMINOTRANSFERASE; GAMMA GLUTAMYLTRANSFERASE;

EID: 79955562180     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e31820e6a55     Document Type: Article
Times cited : (4)

References (13)
  • 1
    • 0030054818 scopus 로고    scopus 로고
    • 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, et al. 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. (Pubitemid 26255733)
    • (1996) Journal of Clinical Investigation , vol.98 , Issue.2 , pp. 352-357
    • Shen, J.1    Bao, Y.2    Liu, H.-M.3    Lee, P.4    Leonard, J.V.5    Chen, Y.-T.6
  • 2
    • 2142857791 scopus 로고    scopus 로고
    • Mutational analysis of the AGL gene: Five novel mutations in GSD III patients
    • Lucchiari S, Donati MA, Melis D, et al. Mutational analysis of the AGL gene: five novel mutations in GSD III patients. Hum Mutat 2003;22:337.
    • (2003) Hum. Mutat. , vol.22 , pp. 337
    • Lucchiari, S.1    Donati, M.A.2    Melis, D.3
  • 5
  • 6
    • 51849156461 scopus 로고    scopus 로고
    • Biochemical and molecular investigation of two korean patients with glycogen storgae disease type III
    • Oh SH, Park HD, Ki CS, et al. Biochemical and molecular investigation of two Korean patients with glycogen storgae disease type III. Clin Chem Lab Med 2008;46:1245-9.
    • (2008) Clin. Chem. Lab. Med. , vol.46 , pp. 1245-1249
    • Oh, S.H.1    Park, H.D.2    Ki, C.S.3
  • 7
    • 57649225514 scopus 로고    scopus 로고
    • Hyperlipidemia in glycogen storage disease type III: Effect of age and metabolic control
    • Bernier AV, Sentner CP, Correia CE, et al. Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic control. J Inherit Metab Dis 2008;31:729-32.
    • (2008) J. Inherit. Metab. Dis. , vol.31 , pp. 729-732
    • Bernier, A.V.1    Sentner, C.P.2    Correia, C.E.3
  • 8
    • 70349838584 scopus 로고    scopus 로고
    • Egyptian glycogen storage disease type III-identification of six novel AGL mutations including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId
    • Endo Y, Fateen E, El Shabrawy M, et al. Egyptian glycogen storage disease type III-identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId. Clin Chem Lab Med 2009;47:1233-8.
    • (2009) Clin. Chem. Lab. Med. , vol.47 , pp. 1233-1238
    • Endo, Y.1    Fateen, E.2    El Shabrawy, M.3
  • 9
    • 0027057809 scopus 로고
    • Glycogen debranching enzyme deficiency: Long-term study of serum enzyme activities and clinical features
    • DOI 10.1007/BF01800225
    • Coleman RA, Winter HS, Wolf B, et al. Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. J Inherit Metab Dis 1992;15:869-81. (Pubitemid 23023190)
    • (1992) Journal of Inherited Metabolic Disease , vol.15 , Issue.6 , pp. 869-881
    • Coleman, R.A.1    Winter, H.S.2    Wolf, B.3    Chen, Y.-T.4
  • 10
    • 0035721156 scopus 로고    scopus 로고
    • Severe hypoglycaemia in a patient with glycogen storage type III induced by infectious mononucleosis
    • DOI 10.1023/A:1013900526628
    • Kimura T, Ikeda H, Kato M, et al. Severe hypoglycemia in a patient with glycogen storage disease type III induced by infectious mononucleosis. J Inherit Metab Dis 2001;24:873-4. (Pubitemid 34189400)
    • (2001) Journal of Inherited Metabolic Disease , vol.24 , Issue.8 , pp. 873-874
    • Kimura, T.1    Ikeda, H.2    Kato, M.3    Ito, A.4    Okubo, M.5    Hayasaka, K.6
  • 11
    • 0242380330 scopus 로고    scopus 로고
    • A simple, rapid test for the differential diagnosis of glycogen storage disease type 3
    • DOI 10.1016/S0009-8981(03)00234-1
    • Bhuiyan J, Al Odaib AN, Ozand PT. A simple, rapid test for the differential diagnosis of glycogen storage disease type 3. Clin Chem Acta 2003;335:21-6. (Pubitemid 37338303)
    • (2003) Clinica Chimica Acta , vol.335 , Issue.1-2 , pp. 21-26
    • Bhuiyan, J.1    Al Odaib, A.N.2    Ozand, P.T.3
  • 12
    • 22044441965 scopus 로고    scopus 로고
    • Relative elevations of serum alanine and aspartate aminotransferase in muscular dystrophy
    • DOI 10.1097/01.WNO.0000161657.98895.97
    • Kohli R, Harris DC, Whitington PF. Relative elevations of serum alanine and aspartate aminotransferase in muscular dystrophy. J Pediatr Gastroenterol Nutr 2005;41:121-4. (Pubitemid 40967367)
    • (2005) Journal of Pediatric Gastroenterology and Nutrition , vol.41 , Issue.1 , pp. 121-124
    • Kohli, R.1    Harris, D.C.2    Whitington, P.F.3
  • 13
    • 77955155274 scopus 로고    scopus 로고
    • Glycogen storage disease type III diagnosis and management guidelines
    • Kishnani PS, Austin SL, Arn P, et al. Glycogen storage disease type III diagnosis and management guidelines. Genet Med 2010; 12:446-63.
    • (2010) Genet. Med. , vol.12 , pp. 446-463
    • Kishnani, P.S.1    Austin, S.L.2    Arn, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.