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Publicaties Ziekte van Pompe

195 resultaten

Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M, Voit T, Kroos MA, Derks TG, Rubio-Gozalbo ME, Willemsen MA, Lachmann RH, Mengel E, Michelakakis H, de Jongste JC, Reuser AJ, van der Ploeg AT

Orphanet journal of rare diseases, 2016 05 18

doi: 10.1186/s13023-016-0442-y

Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge.

Ebbink BJ, Poelman E, Plug I, Lequin MH, van Doorn PA, Aarsen FK, van der Ploeg AT, van den Hout JM

Neurology, 2016 Mar 29

doi: 10.1212/WNL.0000000000002523

Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease.

Wens SC, Schaaf GJ, Michels M, Kruijshaar ME, van Gestel TJ, In 't Groen S, Pijnenburg J, Dekkers DH, Demmers JA, Verdijk LB, Brusse E, van Schaik RH, van der Ploeg AT, van Doorn PA, Pijnappel WW

Circulation. Cardiovascular genetics, 2016 Feb

doi: 10.1161/CIRCGENETICS.115.001322

Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study.

van Gelder CM, Poelman E, Plug I, Hoogeveen-Westerveld M, van der Beek NAME, Reuser AJJ, van der Ploeg AT

Journal of inherited metabolic disease, 2016 05

doi: 10.1007/s10545-015-9912-y

Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up.

Güngör D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SC, Reuser AJ, van Doorn PA, van der Ploeg AT

Journal of inherited metabolic disease, 2016 Mar

doi: 10.1007/s10545-015-9889-6

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.

Schaaf GJ, van Gestel TJ, Brusse E, Verdijk RM, de Coo IF, van Doorn PA, van der Ploeg AT, Pijnappel WW

Acta neuropathologica communications, 2015 Oct 28

doi: 10.1186/s40478-015-0243-x

A conceptual disease model for adult Pompe disease.

Kanters TA, Redekop WK, Rutten-Van Mölken MP, Kruijshaar ME, Güngör D, van der Ploeg AT, Hakkaart L

Orphanet journal of rare diseases, 2015 Sep 15

doi: 10.1186/s13023-015-0334-6

Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program.

van den Berg LE, Favejee MM, Wens SC, Kruijshaar ME, Praet SF, Reuser AJ, Bussmann JB, van Doorn PA, van der Ploeg AT

Orphanet journal of rare diseases, 2015 Jul 19

doi: 10.1186/s13023-015-0303-0

208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014.

Schoser B, Laforêt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT,

Neuromuscular disorders : NMD, 2015 Aug

doi: S0960-8966(15)00131-5

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 pulmonary medicine, 2015 May 06

doi: 10.1186/s12890-015-0058-3

Absolute quantification of the total and antidrug antibody-bound concentrations of recombinant human α-glucosidase in human plasma using protein G extraction and LC-MS/MS.

Bronsema KJ, Bischoff R, Pijnappel WW, van der Ploeg AT, van de Merbel NC

Analytical chemistry, 2015 Apr 21

doi: 10.1021/acs.analchem.5b00169

Exercise training in adults with Pompe disease: the effects on pain, fatigue, and functioning.

Favejee MM, van den Berg LE, Kruijshaar ME, Wens SC, Praet SF, Pim Pijnappel WW, van Doorn PA, Bussmann JB, van der Ploeg AT

Archives of physical medicine and rehabilitation, 2015 May

doi: S0003-9993(14)01284-2