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Journal Abstract Search

114 related items for PubMed ID: 1822791

  • 1. Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein.
    Yang BZ, Stewart C, Ding JH, Chen YT.
    Neuromuscul Disord; 1991; 1(3):173-6. PubMed ID: 1822791
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  • 4. Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.
    Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT.
    J Pediatr; 1990 Jan; 116(1):95-100. PubMed ID: 2295969
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  • 6. Some properties of fibroblasts from a patient with debrancher deficiency.
    Furutani A, Yano O, Gotoh S, Higashi K, Hasegawa E, Ohnishi A.
    J UOEH; 1990 Dec 01; 12(4):411-8. PubMed ID: 2287841
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  • 8. [Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle].
    Wang W, We M, Song HM, Qiu ZQ, Zhang WM, Wu XY, Lu CX, Qi JM, Jing H, Li F.
    Zhonghua Er Ke Za Zhi; 2009 Aug 01; 47(8):608-12. PubMed ID: 19951495
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  • 9. [Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III].
    Zhuang TF, Qiu ZQ, Wei M, Huang SZ.
    Zhonghua Er Ke Za Zhi; 2005 Feb 01; 43(2):85-8. PubMed ID: 15833157
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  • 11. A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
    Okubo M, Horinishi A, Nakamura N, Aoyama Y, Hashimoto M, Endo Y, Murase T.
    Hum Genet; 1998 Jan 01; 102(1):1-5. PubMed ID: 9490286
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  • 13. Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.
    Oh SH, Park HD, Ki CS, Choe YH, Lee SY.
    Clin Chem Lab Med; 2008 Jan 01; 46(9):1245-9. PubMed ID: 18785866
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  • 15. Debrancher enzyme activity in blood cells of families with type III glycogen storage disease. A method for diagnosis of heterozygotes.
    Chayoth R, Moses SW, Steinitz K.
    Isr J Med Sci; 1967 Jan 01; 3(3):422-6. PubMed ID: 5317552
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  • 16. Pathological characteristics of glycogen storage disease III in skeletal muscle.
    Gershen LD, Prayson BE, Prayson RA.
    J Clin Neurosci; 2015 Oct 01; 22(10):1674-5. PubMed ID: 26067541
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  • 17. Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.
    Lucchiari S, Santoro D, Pagliarani S, Comi GP.
    Acta Myol; 2007 Jul 01; 26(1):72-4. PubMed ID: 17915576
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  • 18. Definitive prenatal diagnosis for type III glycogen storage disease.
    Yang BZ, Ding JH, Brown BI, Chen YT.
    Am J Hum Genet; 1990 Oct 01; 47(4):735-9. PubMed ID: 2220811
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  • 19. Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
    Lucchiari S, Fogh I, Prelle A, Parini R, Bresolin N, Melis D, Fiori L, Scarlato G, Comi GP.
    Am J Med Genet; 2002 May 01; 109(3):183-90. PubMed ID: 11977176
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  • 20. Some cases of Type III glycogen storage disease.
    Rosenfield EL, Popova IA, Chibisov IV.
    Clin Chim Acta; 1976 Mar 01; 67(2):123-30. PubMed ID: 1061645
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