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Items: 1 to 20 of 184

1.

Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function.

Gaeta M, Barca E, Ruggeri P, Minutoli F, Rodolico C, Mazziotti S, Milardi D, Musumeci O, Toscano A.

Mol Genet Metab. 2013 Nov;110(3):290-6. doi: 10.1016/j.ymgme.2013.06.023. Epub 2013 Jul 9.

PMID:
23916420
2.

Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment.

Gaeta M, Musumeci O, Mondello S, Ruggeri P, Montagnese F, Cucinotta M, Vinci S, Milardi D, Toscano A.

Neuromuscul Disord. 2015 Nov;25(11):852-8. doi: 10.1016/j.nmd.2015.09.003. Epub 2015 Sep 7.

PMID:
26410244
3.

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.

Montagnese F, Barca E, Musumeci O, Mondello S, Migliorato A, Ciranni A, Rodolico C, De Filippi P, Danesino C, Toscano A.

J Neurol. 2015;262(4):968-78. doi: 10.1007/s00415-015-7664-0. Epub 2015 Feb 12.

PMID:
25673129
4.

Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining.

Jones HN, Crisp KD, Robey RR, Case LE, Kravitz RM, Kishnani PS.

Mol Genet Metab. 2016 Feb;117(2):120-8. doi: 10.1016/j.ymgme.2015.09.003. Epub 2015 Sep 8.

PMID:
26381077
5.

Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease.

Johnson EM, Roberts M, Mozaffar T, Young P, Quartel A, Berger KI.

Neuromuscul Disord. 2016 Feb;26(2):136-45. doi: 10.1016/j.nmd.2015.11.009. Epub 2015 Nov 30.

6.

Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease.

van der Beek NA, van Capelle CI, van der Velden-van Etten KI, Hop WC, van den Berg B, Reuser AJ, van Doorn PA, van der Ploeg AT, Stam H.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):129-36. doi: 10.1016/j.ymgme.2011.06.012. Epub 2011 Jun 24.

PMID:
21763167
7.

How respiratory muscle strength correlates with cough capacity in patients with respiratory muscle weakness.

Park JH, Kang SW, Lee SC, Choi WA, Kim DH.

Yonsei Med J. 2010 May;51(3):392-7. doi: 10.3349/ymj.2010.51.3.392.

8.

The emerging phenotype of late-onset Pompe disease: A systematic literature review.

Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS.

Mol Genet Metab. 2017 Mar;120(3):163-172. doi: 10.1016/j.ymgme.2016.12.004. Epub 2016 Dec 11. Review.

PMID:
28185884
9.

Toward deconstructing the phenotype of late-onset Pompe disease.

Schüller A, Wenninger S, Strigl-Pill N, Schoser B.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):80-8. doi: 10.1002/ajmg.c.31322. Epub 2012 Jan 17.

PMID:
22253010
10.

Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months.

Schneider I, Hanisch F, Müller T, Schmidt B, Zierz S.

Wien Med Wochenschr. 2013 Jan;163(1-2):40-4. doi: 10.1007/s10354-012-0153-5. Epub 2012 Nov 19.

PMID:
23160972
11.

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.

Stepien KM, Hendriksz CJ, Roberts M, Sharma R.

Mol Genet Metab. 2016 Apr;117(4):413-8. doi: 10.1016/j.ymgme.2016.01.013. Epub 2016 Feb 4.

PMID:
26873529
12.

Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.

Horvath JJ, Austin SL, Case LE, Greene KB, Jones HN, Soher BJ, Kishnani PS, Bashir MR.

Muscle Nerve. 2015 May;51(5):722-30. doi: 10.1002/mus.24437. Epub 2015 Mar 26.

PMID:
25155446
13.

Lung MRI and impairment of diaphragmatic function in Pompe disease.

Wens SC, Ciet P, Perez-Rovira A, Logie K, Salamon E, Wielopolski P, de Bruijne M, Kruijshaar ME, Tiddens HA, van Doorn PA, van der Ploeg AT.

BMC Pulm Med. 2015 May 6;15:54. doi: 10.1186/s12890-015-0058-3.

14.

Blunted Hypercapnic Respiratory Drive Response in Subjects With Late-Onset Pompe Disease.

De Vito EL, Monteiro SG, Aruj PK.

Respir Care. 2016 Jul;61(7):930-5. doi: 10.4187/respcare.03940. Epub 2016 Mar 22.

15.

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.

de Vries JM, van der Beek NA, Hop WC, Karstens FP, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber CG, Verschuuren JJ, Kruijshaar ME, Reuser AJ, van Doorn PA, van der Ploeg AT.

Orphanet J Rare Dis. 2012 Sep 26;7:73. doi: 10.1186/1750-1172-7-73.

16.

Is it useful to perform carbon monoxide diffusion capacity and respiratory muscle function tests in patients with multiple sclerosis without disability?

Carvalho SR, Alvarenga Filho H, Papais-Alvarenga RM, Chacur FH, Dias RM.

Respirology. 2012 Jul;17(5):869-75. doi: 10.1111/j.1440-1843.2012.02191.x.

PMID:
22564062
17.

Pulmonary function in multiple sclerosis without any respiratory complaints.

Altintas A, Demir T, Ikitimur HD, Yildirim N.

Clin Neurol Neurosurg. 2007 Apr;109(3):242-6. Epub 2006 Oct 13.

PMID:
17046152
18.

Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature.

Hobson-Webb LD, Proia AD, Thurberg BL, Banugaria S, Prater SN, Kishnani PS.

Mol Genet Metab. 2012 Aug;106(4):462-9. doi: 10.1016/j.ymgme.2012.05.007. Epub 2012 May 18. Review.

PMID:
22664150
19.

Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.

Jones HN, Crisp KD, Moss T, Strollo K, Robey R, Sank J, Canfield M, Case LE, Mahler L, Kravitz RM, Kishnani PS.

J Pediatr Rehabil Med. 2014;7(3):255-65. doi: 10.3233/PRM-140294.

PMID:
25260508
20.

Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease.

Jones HN, Moss T, Edwards L, Kishnani PS.

Mol Genet Metab. 2011 Nov;104(3):417-20. doi: 10.1016/j.ymgme.2011.05.006. Epub 2011 May 27.

PMID:
21641843

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