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Items: 1 to 20 of 220

1.

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.

Laforêt P, Laloui K, Granger B, Hamroun D, Taouagh N, Hogrel JY, Orlikowski D, Bouhour F, Lacour A, Salort-Campana E, Penisson-Besnier I, Sacconi S, Zagnoli F, Chapon F, Eymard B, Desnuelle C, Pouget J; French Pompe Registry Study Group..

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):595-602. doi: 10.1016/j.neurol.2013.07.002. Epub 2013 Sep 3.

PMID:
24008051
2.

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. Epub 2011 Feb 11. Erratum in: Mol Genet Metab. 2011 Nov;104(3):424.

PMID:
21439876
3.

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
4.

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.

Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, Duno M, Andersen H, Laub M, Vissing J.

Mol Genet Metab. 2013 Nov;110(3):287-9. doi: 10.1016/j.ymgme.2013.08.005. Epub 2013 Aug 15.

PMID:
24011652
5.

[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
6.

Should patients with asymptomatic pompe disease be treated? A nationwide study in France.

Echaniz-Laguna A, Carlier RY, Laloui K, Carlier P, Salort-Campana E, Pouget J, Laforet P.

Muscle Nerve. 2015 Jun;51(6):884-9. doi: 10.1002/mus.24653. Epub 2015 Apr 2.

PMID:
25786784
7.

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. Epub 2009 Jul 9.

PMID:
19588081
8.

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E.

Orphanet J Rare Dis. 2012 Jun 7;7:35. doi: 10.1186/1750-1172-7-35.

9.

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.

Roberts M, Kishnani PS, van der Ploeg AT, Müller-Felber W, Merlini L, Prasad S, Case LE.

Mol Genet Metab. 2011 Dec;104(4):574-82. doi: 10.1016/j.ymgme.2011.08.011. Epub 2011 Aug 16.

PMID:
21930409
10.

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M, Lukacs Z, Deschauer M, Gaeta M, Toscano A, Gläser D, Schoser B.

Neuromuscul Disord. 2015 Sep;25(9):719-24. doi: 10.1016/j.nmd.2015.07.002. Epub 2015 Jul 10.

PMID:
26231297
11.

[Juvenile Pompe disease: retrospective clinical study].

Loureiro Neves F, Garcia PC, Madureira N, Araújo H, Rodrigues F, Estêvão MH, Lacerda L, Diogo Matos LM.

Acta Med Port. 2013 Jul-Aug;26(4):361-70. Epub 2013 Aug 30. Portuguese.

12.

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

Raben N, Plotz P, Byrne BJ.

Curr Mol Med. 2002 Mar;2(2):145-66. Review.

PMID:
11949932
13.

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.

van der Beek NA, de Vries JM, Hagemans ML, Hop WC, Kroos MA, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber KG, Verschuuren JJ, Reuser AJ, van der Ploeg AT, van Doorn PA.

Orphanet J Rare Dis. 2012 Nov 12;7:88. doi: 10.1186/1750-1172-7-88.

14.

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B.

J Neurol. 2010 Jan;257(1):91-7. doi: 10.1007/s00415-009-5275-3. Epub 2009 Aug 1.

PMID:
19649685
15.

The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.

Kishnani PS, Beckemeyer AA, Mendelsohn NJ.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):1-7. doi: 10.1002/ajmg.c.31324. Epub 2012 Jan 17.

PMID:
22253049
16.

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.

Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):84-91. doi: 10.1016/j.ymgme.2014.07.014. Epub 2014 Jul 16.

PMID:
25085280
17.

Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy.

Cho A, Kim SJ, Lim BC, Hwang H, Park JD, Kim GB, Jin DK, Lee J, Ki CS, Kim KJ, Hwang YS, Chae JH.

J Child Neurol. 2012 Mar;27(3):319-24. doi: 10.1177/0883073811420295. Epub 2011 Sep 22.

PMID:
21940687
18.

Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.

Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS.

Muscle Nerve. 2011 May;43(5):665-70. doi: 10.1002/mus.21933.

PMID:
21484825
19.

Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results.

Hamdan MA, Almalik MH, Mirghani HM.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S431-6. doi: 10.1007/s10545-008-1000-0. Epub 2008 Dec 12.

PMID:
19067231
20.

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

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