These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

137 related items for PubMed ID: 20441705

  • 1. [Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity].
    Qiu WJ, Wang X, Wang Y, Ye J, Han LS, Zhang HW, Gu XF.
    Zhonghua Er Ke Za Zhi; 2010 Jan; 48(1):55-9. PubMed ID: 20441705
    [Abstract] [Full Text] [Related]

  • 2. Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
    Nilsson MI, Kroos MA, Reuser AJ, Hatcher E, Akhtar M, McCready ME, Tarnopolsky MA.
    Gene; 2014 Mar 01; 537(1):41-5. PubMed ID: 24384324
    [Abstract] [Full Text] [Related]

  • 3. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.
    Goldstein JL, Young SP, Changela M, Dickerson GH, Zhang H, Dai J, Peterson D, Millington DS, Kishnani PS, Bali DS.
    Muscle Nerve; 2009 Jul 01; 40(1):32-6. PubMed ID: 19533645
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 347(1-2):97-102. PubMed ID: 15313146
    [Abstract] [Full Text] [Related]

  • 5. Newborn screening for Pompe disease in Japan.
    Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, Osawa M, Okuyama T.
    Mol Genet Metab; 2011 Dec 01; 104(4):560-5. PubMed ID: 21963784
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. [Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II].
    Zhang L, Xu XH, Wang J, Zhang SJ.
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Nov 01; 17(11):1228-31. PubMed ID: 26575883
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study.
    Confalonieri M, Vitacca M, Scala R, Polverino M, Sabato E, Crescimanno G, Ceriana P, Antonaglia C, Siciliano G, Ring N, Zacchigna S, Salton F, Vianello A, AIPO Pneumoloped Group.
    Orphanet J Rare Dis; 2019 Mar 04; 14(1):62. PubMed ID: 30832705
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. [Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II].
    Zeng MH, Qiu WJ, Gu XF, Wang Y, Zhou JD, Ye J, Han LS, Zhang HW.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun 04; 28(3):261-5. PubMed ID: 21644219
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.
    Sun B, Zhang H, Franco LM, Young SP, Schneider A, Bird A, Amalfitano A, Chen YT, Koeberl DD.
    Mol Ther; 2005 Jan 04; 11(1):57-65. PubMed ID: 15585406
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 7.