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Journal Abstract Search

273 related items for PubMed ID: 12436356

  • 1. [26-year-old female patient with elevated liver enzymes].
    Martin K, Schlotter B, Müller-Höcker J, Loeschke K, Pongratz D, Folwaczny C.
    Z Gastroenterol; 2002 Oct; 40(10):885-90. PubMed ID: 12436356
    [Abstract] [Full Text] [Related]

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

  • 3. Biopsy-proven alpha-glucosidase deficiency with normal lymphocyte enzyme activity.
    Whitaker CH, Felice KJ, Natowicz M.
    Muscle Nerve; 2004 Mar; 29(3):440-2. PubMed ID: 14981745
    [Abstract] [Full Text] [Related]

  • 4. [Glycogen storage disease (Pompe's disease) presenting as myopathy in the adult (author's transl)].
    Stefan H, Böker DK, Müller J, Gullotta F.
    Dtsch Med Wochenschr; 1977 Oct 21; 102(42):1512-4. PubMed ID: 269788
    [Abstract] [Full Text] [Related]

  • 5. 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 Oct 21; 45(1):37-50. PubMed ID: 6199886
    [Abstract] [Full Text] [Related]

  • 6. Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease.
    Hoeksma M, Boon M, Niezen-Koning KE, van Overbeek-van Gils L, van Spronsen FJ.
    Eur J Pediatr; 2007 Aug 21; 166(8):871-4. PubMed ID: 17043839
    [Abstract] [Full Text] [Related]

  • 7. Muscular form of glycogenosis type II (Pompe's disease).
    Tanaka K, Shimazu S, Oya N, Tomisawa M, Kusunoki T, Soyama K, Ono E.
    Pediatrics; 1979 Jan 21; 63(1):124-9. PubMed ID: 375166
    [Abstract] [Full Text] [Related]

  • 8. Infantile-acute acid maltase deficiency (Pompe's disease): studies of muscle cultures.
    Meola G, Scarpini E, Manfredi L, Velicogna M, Pellegrini G, Redi CA, Scarlato G.
    Basic Appl Histochem; 1984 Jan 21; 28(3):245-55. PubMed ID: 6440527
    [Abstract] [Full Text] [Related]

  • 9. Glycogen storage disease type II (Pompe's disease): the first biochemical evidence in Thailand.
    Rangdaeng S, Scollard DM, Srichairatanakol S, Sutthachit M, Phornphutkul C.
    J Med Assoc Thai; 1987 Sep 21; 70(9):536-42. PubMed ID: 2960768
    [No Abstract] [Full Text] [Related]

  • 10. Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity.
    Wierzba-Bobrowicz T, Lewandowska E, Lugowska A, Rola R, Stepień T, Ryglewicz D, Pasennik E.
    Folia Neuropathol; 2007 Sep 21; 45(4):179-86. PubMed ID: 18176891
    [Abstract] [Full Text] [Related]

  • 11. [Myopathy caused by acid maltase deficiency in an adult].
    Cartier L, Cea JG, Slachevsky A.
    Rev Med Chil; 1995 Jun 21; 123(6):758-61. PubMed ID: 8525231
    [Abstract] [Full Text] [Related]

  • 12.
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    [No Abstract] [Full Text] [Related]

  • 13. 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 21; 15(4):258-67. PubMed ID: 8249669
    [Abstract] [Full Text] [Related]

  • 14. [Hepatic involvement in a case of lysosomal glycogen storage disease with normal acid maltase].
    Matsumoto S, Yamada T, Tanaka K, Hara H, Nonaka I, Uchida T, Miyagi Y, Fukutomi T, Kira J.
    Rinsho Shinkeigaku; 1999 Jul 21; 39(7):717-21. PubMed ID: 10548908
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Vacuolar myopathy with type 2 A fiber atrophy and type 2 B fiber deficiency. A case of childhood form acid alpha-1,4-glucosidase deficiency.
    Matsuishi T, Terasawa K, Yoshida I, Yano E, Yamashita F, Hidaka T, Ishihara O, Yoshino M, Nonaka I, Kurokawa T, Nakamura Y.
    Neuropediatrics; 1982 Nov 25; 13(4):173-6. PubMed ID: 6818487
    [Abstract] [Full Text] [Related]

  • 17. [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 25; 15(12):705-8. PubMed ID: 342670
    [No Abstract] [Full Text] [Related]

  • 18. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 36-1986. A 29-year-old woman with slowly progressive proximal-muscle weakness.
    N Engl J Med; 1986 Sep 11; 315(11):694-701. PubMed ID: 3092049
    [No Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. [A retrospective study of six patients with late-onset Pompe disease].
    Saux A, Laforet P, Pagès AM, Figarella-Branger D, Pellissier JF, Pagès M, Labauge P.
    Rev Neurol (Paris); 2008 Apr 17; 164(4):336-42. PubMed ID: 18439925
    [Abstract] [Full Text] [Related]

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