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318 related items for PubMed ID: 16359900

  • 1. A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.
    Okumiya T, Keulemans JL, Kroos MA, Van der Beek NM, Boer MA, Takeuchi H, Van Diggelen OP, Reuser AJ.
    Mol Genet Metab; 2006 May; 88(1):22-8. PubMed ID: 16359900
    [Abstract] [Full Text] [Related]

  • 2. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.
    Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C.
    Clin Chim Acta; 2004 Sep; 347(1-2):97-102. PubMed ID: 15313146
    [Abstract] [Full Text] [Related]

  • 3. Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
    Verloes A, Massin M, Lombet J, Grattagliano B, Soyeur D, Rigo J, Koulischer L, Van Hoof F.
    Am J Med Genet; 1997 Oct 17; 72(2):135-42. PubMed ID: 9382133
    [Abstract] [Full Text] [Related]

  • 4. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.
    Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, Dai J, Kishnani P, Skrinar A, Corzo D, Keutzer J.
    Mol Genet Metab; 2007 Apr 17; 90(4):449-52. PubMed ID: 17270480
    [Abstract] [Full Text] [Related]

  • 5. Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.
    van Diggelen OP, Oemardien LF, van der Beek NA, Kroos MA, Wind HK, Voznyi YV, Burke D, Jackson M, Winchester BG, Reuser AJ.
    J Inherit Metab Dis; 2009 Jun 17; 32(3):416-23. PubMed ID: 19387865
    [Abstract] [Full Text] [Related]

  • 6. Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.
    Shigeto S, Katafuchi T, Okada Y, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos MA, Verheijen FW, Reuser AJ, Okumiya T.
    Mol Genet Metab; 2011 May 17; 103(1):12-7. PubMed ID: 21320792
    [Abstract] [Full Text] [Related]

  • 7. Infantile acid maltase deficiency. II. Muscle fiber hypertrophy and the ultrastructure of end-stage fibers.
    Griffin JL.
    Virchows Arch B Cell Pathol Incl Mol Pathol; 1984 May 17; 45(1):37-50. PubMed ID: 6199886
    [Abstract] [Full Text] [Related]

  • 8. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.
    Zhang H, Kallwass H, Young SP, Carr C, Dai J, Kishnani PS, Millington DS, Keutzer J, Chen YT, Bali D.
    Genet Med; 2006 May 17; 8(5):302-6. PubMed ID: 16702880
    [Abstract] [Full Text] [Related]

  • 9. [Biochemical diagnosis of glycogenosis type II (acid maltase deficiency) (author's transl)].
    Pilz H, Goebel HH, Stefan H, Seidel D, Kohlschütter A.
    J Clin Chem Clin Biochem; 1977 Dec 17; 15(12):705-8. PubMed ID: 342670
    [No Abstract] [Full Text] [Related]

  • 10. Comparative investigation of alpha-glucosidase activity in leucocytes and skeletal muscle of patients with Morbus Pompe.
    Didt L, Winkler M, Bührdel P, Bormann M, Böhme HJ, Hofmann E.
    Z Med Lab Diagn; 1988 Dec 17; 29(1):7-11. PubMed ID: 3129881
    [No Abstract] [Full Text] [Related]

  • 11. Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
    Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ.
    Hum Mutat; 1998 Dec 17; 11(3):209-15. PubMed ID: 9521422
    [Abstract] [Full Text] [Related]

  • 12. Late-onset acid maltase deficiency in a Chinese girl.
    Wong KS, Lai C, Ng HK.
    Clin Exp Neurol; 1991 Dec 17; 28():210-8. PubMed ID: 1821829
    [Abstract] [Full Text] [Related]

  • 13. Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease.
    Umapathysivam K, Hopwood JJ, Meikle PJ.
    Clin Chim Acta; 2005 Nov 17; 361(1-2):191-8. PubMed ID: 15993875
    [Abstract] [Full Text] [Related]

  • 14. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
    Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG.
    Neurology; 2005 Jan 25; 64(2):368-70. PubMed ID: 15668445
    [Abstract] [Full Text] [Related]

  • 15. Infantile acid maltase deficiency. III. Ultrastructure of metachromatic material and glycogen in muscle fibers.
    Griffin JL.
    Virchows Arch B Cell Pathol Incl Mol Pathol; 1984 Jan 25; 45(1):51-61. PubMed ID: 6199887
    [Abstract] [Full Text] [Related]

  • 16. Developmental study of alpha-glucosidases in Japanese quails with acid maltase deficiency.
    Usuki F, Ishiura S, Sugita H.
    Muscle Nerve; 1986 Jan 25; 9(6):537-43. PubMed ID: 3090432
    [Abstract] [Full Text] [Related]

  • 17. Acid maltase deficiency in childhood. Early diagnosis and clinical follow-up of late-onset glycogen storage disease type II.
    di Fiore MT, Manfredi R, Marri L, Zucchini A, Azzaroli L, Manfredi G.
    Acta Neurol (Napoli); 1993 Aug 25; 15(4):258-67. PubMed ID: 8249669
    [Abstract] [Full Text] [Related]

  • 18. Laboratory diagnosis of the neuromuscular glycogen storage diseases.
    Farmer PM.
    Ann Clin Lab Sci; 1982 Aug 25; 12(6):431-8. PubMed ID: 6817693
    [Abstract] [Full Text] [Related]

  • 19. [Lysosomal glycogen storage disease without acid maltase deficiency(Danon disease)].
    Ohno K.
    Ryoikibetsu Shokogun Shirizu; 2000 Aug 25; (29 Pt 4):491-2. PubMed ID: 11032005
    [No Abstract] [Full Text] [Related]

  • 20. Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
    van der Beek NA, Hagemans ML, van der Ploeg AT, Reuser AJ, van Doorn PA.
    Acta Neurol Belg; 2006 Jun 25; 106(2):82-6. PubMed ID: 16898258
    [Abstract] [Full Text] [Related]

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