PubMed

Introduction to Brazilian Guidelines to Diagnosis, Treatment,and Monitoring for Gaucher Disease, Fabry Disease, Mucopolysaccharidosis I, and Pompe Disease.

Martins AM.

J Pediatr. 2009 Oct;155(4 Suppl):S9. No abstract available. PMID: 19810165 [PubMed - indexed for MEDLINE]Related articles

The Brazilian consensus on the management of Pompe disease.

Llerena JC Jr, Horovitz DM, Marie SK, Porta G, Giugliani R, Rojas MV, Martins AM; Brazilian Network for Studies in Pompe Disease (ReBrPOM).

J Pediatr. 2009 Oct;155(4 Suppl):S47-56. Review. No abstract available. PMID: 19765410 [PubMed - indexed for MEDLINE]Related articles

Nitric oxide inhalation and glucocorticoids as combined treatment in human experimental endotoxemia: It takes not always two to tango.

Pompe JC, Kox M, Hoedemaekers CW, van der Hoeven JG, Pickkers P.

Crit Care Med. 2009 Sep;37(9):2676; author reply 2676-7. No abstract available. PMID: 19687652 [PubMed - indexed for MEDLINE]Related articles

GTS-21 inhibits pro-inflammatory cytokine release independent of the Toll-like receptor stimulated via a transcriptional mechanism involving JAK2 activation.

Kox M, van Velzen JF, Pompe JC, Hoedemaekers CW, van der Hoeven JG, Pickkers P.

Biochem Pharmacol. 2009 Oct 1;78(7):863-72. Epub 2009 Jul 1.PMID: 19576181 [PubMed - indexed for MEDLINE]Related articles

The values and limits of an in vitro model of Pompe disease: the best laid schemes o' mice an' men...

Takikita S, Myerowitz R, Schreiner C, Baum R, Raben N, Plotz PH.

Autophagy. 2009 Jul;5(5):729-31.PMID: 19571661 [PubMed - indexed for MEDLINE]Related articlesFree article

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.

Kishnani PS, Corzo D, Leslie ND, Gruskin D, Van der Ploeg A, Clancy JP, Parini R, Morin G, Beck M, Bauer MS, Jokic M, Tsai CE, Tsai BW, Morgan C, O'Meara T, Richards S, Tsao EC, Mandel H.

Pediatr Res. 2009 Sep;66(3):329-35.PMID: 19542901 [PubMed - indexed for MEDLINE]Related articles

Diagnostic criteria for late-onset (childhood and adult) Pompe disease.

American Association of Neuromuscular & Electrodiagnostic Medicine.

Muscle Nerve. 2009 Jul;40(1):149-60.PMID: 19533647 [PubMed - indexed for MEDLINE]Related articles

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;40(1):32-6.PMID: 19533645 [PubMed - indexed for MEDLINE]Related articles

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.

Young SP, Zhang H, Corzo D, Thurberg BL, Bali D, Kishnani PS, Millington DS.

Genet Med. 2009 Jul;11(7):536-41.PMID: 19521244 [PubMed - indexed for MEDLINE]Related articles

Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.

Chen LR, Chen CA, Chiu SN, Chien YH, Lee NC, Lin MT, Hwu WL, Wang JK, Wu MH.

J Pediatr. 2009 Aug;155(2):271-5.e2. Epub 2009 May 31.PMID: 19486996 [PubMed - indexed for MEDLINE]Related articles

Neural deficits contribute to respiratory insufficiency in Pompe disease.

DeRuisseau LR, Fuller DD, Qiu K, DeRuisseau KC, Donnelly WH Jr, Mah C, Reier PJ, Byrne BJ.

Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9419-24. Epub 2009 May 27.PMID: 19474295 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.

Korpela MP, Paetau A, Löfberg MI, Timonen MH, Lamminen AE, Kiuru-Enari SM.

Muscle Nerve. 2009 Jul;40(1):143-8.PMID: 19472353 [PubMed - indexed for MEDLINE]Related articles

Toxicity of tungsten carbide and cobalt-doped tungsten carbide nanoparticles in mammalian cells in vitro.

Bastian S, Busch W, Kühnel D, Springer A, Meissner T, Holke R, Scholz S, Iwe M, Pompe W, Gelinsky M, Potthoff A, Richter V, Ikonomidou C, Schirmer K.

Environ Health Perspect. 2009 Apr;117(4):530-6. Epub 2008 Dec 1.PMID: 19440490 [PubMed - indexed for MEDLINE]Related articlesFree article

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;32(3):416-23. Epub 2009 Apr 19.PMID: 19387865 [PubMed - indexed for MEDLINE]Related articles

A new resorufin-based alpha-glucosidase assay for high-throughput screening.

Motabar O, Shi ZD, Goldin E, Liu K, Southall N, Sidransky E, Austin CP, Griffiths GL, Zheng W.

Anal Biochem. 2009 Jul 1;390(1):79-84. Epub 2009 Apr 14.PMID: 19371716 [PubMed - indexed for MEDLINE]Related articles

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.

Kumamoto S, Katafuchi T, Nakamura K, Endo F, Oda E, Okuyama T, Kroos MA, Reuser AJ, Okumiya T.

Mol Genet Metab. 2009 Jul;97(3):190-5. Epub 2009 Mar 18.PMID: 19362502 [PubMed - indexed for MEDLINE]Related articles

The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts.

Porto C, Cardone M, Fontana F, Rossi B, Tuzzi MR, Tarallo A, Barone MV, Andria G, Parenti G.

Mol Ther. 2009 Jun;17(6):964-71. Epub 2009 Mar 17.PMID: 19293774 [PubMed - indexed for MEDLINE]Related articles

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tatò L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS.

Genet Med. 2009 Mar;11(3):210-9.PMID: 19287243 [PubMed - indexed for MEDLINE]Related articles

Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease.

Zhu Y, Jiang JL, Gumlaw NK, Zhang J, Bercury SD, Ziegler RJ, Lee K, Kudo M, Canfield WM, Edmunds T, Jiang C, Mattaliano RJ, Cheng SH.

Mol Ther. 2009 Jun;17(6):954-63. Epub 2009 Mar 10.PMID: 19277015 [PubMed - indexed for MEDLINE]Related articles

Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of alpha-glucosidase in Pompe disease.

Douillard-Guilloux G, Richard E, Batista L, Caillaud C.

J Gene Med. 2009 Apr;11(4):279-87.PMID: 19263466 [PubMed - indexed for MEDLINE]Related articles