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Journal Abstract Search

219 related items for PubMed ID: 8810846

  • 1. [Nine cases of debrancher deficiency (glycogen storage disease type III) presenting muscle weakness--study on clinicobiochemical analysis].
    Fukuda T, Sugie H, Ito M, Tsurui S, Sugie Y, Igarashi Y.
    Rinsho Shinkeigaku; 1996 Apr; 36(4):540-3. PubMed ID: 8810846
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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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  • 5. Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis.
    Momoi T, Sano H, Yamanaka C, Sasaki H, Mikawa H.
    Am J Med Genet; 1992 Mar 01; 42(5):696-9. PubMed ID: 1632441
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  • 7. 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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  • 9. A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.
    Shen J, Bao Y, Chen YT.
    Hum Mutat; 1997 May 01; 9(1):37-40. PubMed ID: 8990006
    [Abstract] [Full Text] [Related]

  • 10. Diet therapy in severe clinical expression of debrancher deficiency.
    Azael Meza A, Ayub M, Cantú JM, Flores J.
    Arch Invest Med (Mex); 1991 May 01; 22(3-4):285-8. PubMed ID: 1844114
    [Abstract] [Full Text] [Related]

  • 11. Glycogen storage disease. Studies related to the mechanism of glycogenosome formation.
    Iwamasa T, Ninomiya N, Fukuda S, Hamada T, Hirashima M, Osame M.
    Pathol Res Pract; 1983 Mar 01; 176(2-4):236-52. PubMed ID: 6304667
    [Abstract] [Full Text] [Related]

  • 12. Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
    Lucchiari S, Donati MA, Melis D, Filocamo M, Parini R, Bresolin N, Comi GP.
    Hum Mutat; 2003 Oct 01; 22(4):337. PubMed ID: 12955720
    [Abstract] [Full Text] [Related]

  • 13. Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.
    Horvath JJ, Austin SL, Jones HN, Drake EJ, Case LE, Soher BJ, Bashir MR, Kishnani PS.
    Mol Genet Metab; 2012 Nov 01; 107(3):496-500. PubMed ID: 23062577
    [Abstract] [Full Text] [Related]

  • 14. Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
    Lucchiari S, Donati MA, Parini R, Melis D, Gatti R, Bresolin N, Scarlato G, Comi GP.
    Hum Mutat; 2002 Dec 01; 20(6):480. PubMed ID: 12442284
    [Abstract] [Full Text] [Related]

  • 15. A monocentric pilot study of an antioxidative defense and hsCRP in pediatric patients with glycogen storage disease type IA and III.
    Kalkan Ucar S, Coker M, Sözmen E, Goksen Simsek D, Darcan S.
    Nutr Metab Cardiovasc Dis; 2009 Jul 01; 19(6):383-90. PubMed ID: 19073362
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. [Clinical and pathological features of glycogen storage disease type III].
    Dai YJ, Chen L, Guo YP, Ren HT, Zhao YH, Wei M, Qiu ZQ, Song HM.
    Zhonghua Yi Xue Za Zhi; 2009 Apr 21; 89(15):1064-6. PubMed ID: 19595259
    [Abstract] [Full Text] [Related]

  • 18. [Glycogen debranching enzyme deficiency].
    Owada M, Nakabayashi H.
    Ryoikibetsu Shokogun Shirizu; 1998 Apr 21; (18 Pt 1):38-42. PubMed ID: 9589983
    [No Abstract] [Full Text] [Related]

  • 19. [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 21; 43(2):85-8. PubMed ID: 15833157
    [Abstract] [Full Text] [Related]

  • 20. Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
    Lucchiari S, Pagliarani S, Salani S, Filocamo M, Di Rocco M, Melis D, Rodolico C, Musumeci O, Toscano A, Bresolin N, Comi GP.
    Hum Mutat; 2006 Jun 21; 27(6):600-1. PubMed ID: 16705713
    [Abstract] [Full Text] [Related]

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