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Journal Abstract Search

241 related items for PubMed ID: 2961257

  • 1.
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  • 2. 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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  • 3. Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.
    Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT.
    Ann Intern Med; 1992 Jun 01; 116(11):896-900. PubMed ID: 1580445
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  • 4. Purification and properties of debranching enzyme from dogfish muscle.
    Becker JU, Long TJ, Fischer EH.
    Biochemistry; 1977 Jan 25; 16(2):291-7. PubMed ID: 13809
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  • 5. 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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  • 6. 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 Mar 01; 3(3):422-6. PubMed ID: 5317552
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  • 7. Glycogen debrancher deficiency is reproduced in muscle culture.
    Miranda AF, DiMauro S, Antler A, Stern LZ, Rowland LP.
    Ann Neurol; 1981 Mar 01; 9(3):283-8. PubMed ID: 6452853
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  • 13. 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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  • 15. A simple assay for amylo-1,6-glucosidase to detect heterozygotes for glycogenosis type III in erythrocytes.
    Shin YS, Ungar R, Rieth M, Endres W.
    Clin Chem; 1984 Oct 01; 30(10):1717-8. PubMed ID: 6236913
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  • 16. Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa.
    Uotani S, Yamasaki H, Takino H, Kawasaki E, Matsuo H, Yamasaki S, Jinno Y, Niikawa N, Ito M, Sugie H, Yamaguchi Y, Eguchi K.
    J Inherit Metab Dis; 2000 Jul 01; 23(5):527-8. PubMed ID: 10947213
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  • 17. Debrancher deficiency: neuromuscular disorder in 5 adults.
    DiMauro S, Hartwig GB, Hays A, Eastwood AB, Franco R, Olarte M, Chang M, Roses AD, Fetell M, Schoenfeldt RS, Stern LZ.
    Ann Neurol; 1979 May 01; 5(5):422-36. PubMed ID: 288318
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  • 18. Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.
    Yang BZ, Ding JH, Enghild JJ, Bao Y, Chen YT.
    J Biol Chem; 1992 May 05; 267(13):9294-9. PubMed ID: 1374391
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  • 19. A Functional Human Glycogen Debranching Enzyme Encoded by a Synthetic Gene: Its Implications for Glycogen Storage Disease Type III Management.
    Triggiani D, Demurtas OC, Illiano E, Massa S, Pasquo A, Dionisi-Vici C, Marino C, Giuliano G, Franconi R.
    Protein Pept Lett; 2024 May 05; 31(7):519-531. PubMed ID: 39021187
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  • 20. [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 05; 43(2):85-8. PubMed ID: 15833157
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