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PUBMED FOR HANDHELDS

Journal Abstract Search

113 related items for PubMed ID: 2287841

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  • 4. 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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  • 5. Glycogen debrancher deficiency is reproduced in muscle culture.
    Miranda AF, DiMauro S, Antler A, Stern LZ, Rowland LP.
    Ann Neurol; 1981 Mar; 9(3):283-8. PubMed ID: 6452853
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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; 102(1):1-5. PubMed ID: 9490286
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  • 13. The apparent activity in vivo of the lysosomal pathway of glycogen catabolism in cultured human skin fibroblasts from patients with type III glycogen storage disease.
    Brown DH, Waindle LM, Brown BI.
    J Biol Chem; 1978 Jul 25; 253(14):5005-11. PubMed ID: 353046
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  • 17. Skin biopsy findings in glycogenosis III: clinical, biochemical, and electrophysiological correlations.
    Sancho S, Navarro C, Fernández JM, Domínguez C, Ortega A, Roig M, Cervera C.
    Ann Neurol; 1990 May 25; 27(5):480-6. PubMed ID: 2360788
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  • 18. [Evaluation of a fluorimetric for determining the activity of amylo-1,6-glucosidase in leukocytes for confirming the diagnosis of glycogen storage disease type III].
    Miadi-Messaoud H, Mili A, Ben Khalifa H, Limem K.
    Ann Biol Clin (Paris); 2011 May 25; 69(1):41-5. PubMed ID: 21463994
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  • 19. Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis.
    Ugawa Y, Inoue K, Takemura T, Iwamasa T.
    Ann Neurol; 1986 Mar 25; 19(3):294-7. PubMed ID: 3457549
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