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Volumn 19, Issue 9, 1999, Pages 837-839

Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis

Author keywords

Glycogen branching enzyme; Glycogen storage disease type IV; Mutation analysis; Prenatal diagnosis

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME;

EID: 0032854606     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199909)19:9<837::AID-PD652>3.0.CO;2-G     Document Type: Article
Times cited : (18)

References (9)
  • 1
    • 0030032758 scopus 로고    scopus 로고
    • Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen branching enzyme gene
    • Bao Y, Kishnani P, Wu J-Y, Chen Y-T. 1996. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen branching enzyme gene. J Clin Invest 97: 941-948.
    • (1996) J Clin Invest , vol.97 , pp. 941-948
    • Bao, Y.1    Kishnani, P.2    Wu, J.-Y.3    Chen, Y.-T.4
  • 2
    • 0024594608 scopus 로고
    • Branching enzyme activity of cultured amniocytes and chorionic villi: Prenatal testing for type IV glycogen storage disease
    • Brown BI, Brown DH. 1989. Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease. Am J Hum Genet 44: 378-381.
    • (1989) Am J Hum Genet , vol.44 , pp. 378-381
    • Brown, B.I.1    Brown, D.H.2
  • 4
    • 0000171986 scopus 로고
    • Glycogen storage disease
    • Scriver CR, Beaudet AL, Sly WS, Valle, D (eds). New York: McGraw-Hill
    • Chen Y-T, Burchell A. 1995. Glycogen storage disease. In: Scriver CR, Beaudet AL, Sly WS, Valle, D (eds) The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 935-965.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 935-965
    • Chen, Y.-T.1    Burchell, A.2
  • 5
    • 0023875089 scopus 로고
    • A new variant of type IV glycogenosis: Deficiency of branching enzyme activity without apparent liver disease
    • Greene HL, Brown BI, McClenahan DT, Agostini RM, Taylor SR. 1988. A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent liver disease. Hepatology 8: 302-306.
    • (1988) Hepatology , vol.8 , pp. 302-306
    • Greene, H.L.1    Brown, B.I.2    McClenahan, D.T.3    Agostini, R.M.4    Taylor, S.R.5
  • 7
    • 0025946765 scopus 로고
    • Hereditary branching enzyme dysfunction in adult polyglucosan body disease: A possible metabolic cause in two patients
    • Lossos A, Barash V, Sofer D, Argov Z, Gomori M, Ben-Nariah Z, Abranmsky O, Steiner I. 1991. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol 30: 655-662.
    • (1991) Ann Neurol , vol.30 , pp. 655-662
    • Lossos, A.1    Barash, V.2    Sofer, D.3    Argov, Z.4    Gomori, M.5    Ben-Nariah, Z.6    Abranmsky, O.7    Steiner, I.8
  • 9
    • 0027531831 scopus 로고
    • Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast
    • Thon VJ, Khalil M, Cannon JF. 1993. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. J Biol Chem 268: 7509-7513.
    • (1993) J Biol Chem , vol.268 , pp. 7509-7513
    • Thon, V.J.1    Khalil, M.2    Cannon, J.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.