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Items: 1 to 20 of 115

1.

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.

Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; Infantile-Onset Pompe Disease Natural History Study Group..

J Pediatr. 2006 May;148(5):671-676.

PMID:
16737883
2.

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT.

Pediatrics. 2004 May;113(5):e448-57.

PMID:
15121988
3.

Sibling phenotype concordance in classical infantile Pompe disease.

Smith WE, Sullivan-Saarela JA, Li JS, Cox GF, Corzo D, Chen YT, Kishnani PS.

Am J Med Genet A. 2007 Nov 1;143A(21):2493-501. Review.

PMID:
17853454
4.

[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;164(4):336-42. doi: 10.1016/j.neurol.2007.09.008. French.

PMID:
18439925
5.
6.

Enzyme replacement therapy for infantile-onset pompe disease: curse or cure?

Willems J, Petros A, Brierley J.

Neurology. 2008 Jul 29;71(5):380-1. doi: 10.1212/01.wnl.0000319722.16673.27. No abstract available.

PMID:
18663187
7.

Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

Chien YH, Lee NC, Thurberg BL, Chiang SC, Zhang XK, Keutzer J, Huang AC, Wu MH, Huang PH, Tsai FJ, Chen YT, Hwu WL.

Pediatrics. 2009 Dec;124(6):e1116-25. doi: 10.1542/peds.2008-3667.

PMID:
19948615
8.

Report of the first Brazilian infantile Pompe disease patient to be treated with recombinant human acid alpha-glucosidase.

Pereira SJ, Berditchevisky CR, Marie SK.

J Pediatr (Rio J). 2008 May-Jun;84(3):272-5. doi: doi:10.2223/JPED.1793.

9.

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.

Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ.

Neurology. 2007 Jan 9;68(2):110-5.

PMID:
17210890
10.

Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series.

Wang LY, Ross AK, Li JS, Dearmey SM, Mackey JF, Worden M, Corzo D, Morgan C, Kishnani PS.

Paediatr Anaesth. 2007 Aug;17(8):738-48.

PMID:
17596219
11.

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, Leslie N, Levine J, Spencer C, McDonald M, Li J, Dumontier J, Halberthal M, Chien YH, Hopkin R, Vijayaraghavan S, Gruskin D, Bartholomew D, van der Ploeg A, Clancy JP, Parini R, Morin G, Beck M, De la Gastine GS, Jokic M, Thurberg B, Richards S, Bali D, Davison M, Worden MA, Chen YT, Wraith JE.

Neurology. 2007 Jan 9;68(2):99-109. Erratum in: Neurology. 2008 Nov 18;71(21):1748.

PMID:
17151339
12.

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.

van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, Bakker HD, Loonen MC, de Klerk JB, Reuser AJ, van der Ploeg AT.

Pediatrics. 2003 Aug;112(2):332-40. Review.

PMID:
12897283
13.

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. doi: 10.1016/j.jpeds.2009.03.015.

PMID:
19486996
14.

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.

Kishnani PS, Nicolino M, Voit T, Rogers RC, Tsai AC, Waterson J, Herman GE, Amalfitano A, Thurberg BL, Richards S, Davison M, Corzo D, Chen YT.

J Pediatr. 2006 Jul;149(1):89-97.

15.

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

Oba-Shinjo SM, da Silva R, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, S Carvalho M, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena JC Jr, Berditchevsky CR, Sobreira C, Horovitz D, Hatem TP, Frota ER, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo JS Jr, Mattaliano RJ, Marie SK.

J Neurol. 2009 Nov;256(11):1881-90. doi: 10.1007/s00415-009-5219-y.

PMID:
19588081
16.

Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochmüller H, Schoser B.

Neuromuscul Disord. 2007 Oct;17(9-10):698-706.

PMID:
17643989
17.

Physical therapy management of Pompe disease.

Case LE, Kishnani PS.

Genet Med. 2006 May;8(5):318-27. Review.

PMID:
16702883
18.

Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.

Klinge L, Straub V, Neudorf U, Schaper J, Bosbach T, Görlinger K, Wallot M, Richards S, Voit T.

Neuromuscul Disord. 2005 Jan;15(1):24-31.

PMID:
15639117
19.

Pompe disease: design, methodology, and early findings from the Pompe Registry.

Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, van der Ploeg A.

Mol Genet Metab. 2011 May;103(1):1-11. doi: 10.1016/j.ymgme.2011.02.004. Erratum in: Mol Genet Metab. 2011 Nov;104(3):424.

PMID:
21439876
20.

Polysomnographic findings in infantile Pompe disease.

Kansagra S, Austin S, DeArmey S, Kishnani PS, Kravitz RM.

Am J Med Genet A. 2013 Dec;161A(12):3196-200. doi: 10.1002/ajmg.a.36227.

PMID:
24123966
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