نتایج جستجو برای: pompe disease

تعداد نتایج: 1490290  

Journal: :Annals of Translational Medicine 2019

Journal: :Journal of Neuromuscular Diseases 2015

Journal: :BMC Musculoskeletal Disorders 2013

Journal: :South African Medical Journal 2014

2014
I. Schneider M. Deschauer F. Hanisch

http://dx.doi.org/10.1016/j.ymgmr.2014.01.001 2214-4269/© 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND licen (http://creativecommons.org/licenses/by-nc-nd/3.0/). Patients with late-onset Pompe disease receiving enzyme replacement therapy (ERT) usually develop IgG antibodies against algucosidase alpha (anti-rhGAA) within the first 3 months. Th...

Journal: :Neuromuscular Disorders 2015
Laura E. Case Carl Bjartmar Claire Morgan Robin Casey Joel Charrow John P. Clancy Majed Dasouki Stephanie DeArmey Khan Nedd Mary Nevins Heidi Peters Dawn Phillips Zachary Spigelman Cynthia Tifft Priya S. Kishnani

Emerging phenotypes in long-term survivors with Pompe disease on standard enzyme replacement therapy (ERT) (alglucosidase alfa 20 mg/kg/2 weeks) can include patients with worsening motor function. Whether higher doses of ERT improve skeletal function in these patients has not been systematically studied. This exploratory, randomized, open-label, 52-week study examined the safety and efficacy of...

Journal: :Neurology 2004
M L C Hagemans A C J W Janssens L P F Winkel K A Sieradzan A J J Reuser P A Van Doorn A T Van der Ploeg

OBJECTIVE To investigate quality of life in an international population of patients with late-onset Pompe disease. METHODS Data on quality of life (SF-36), age, sex, disease duration, wheelchair use, and use of artificial ventilation were collected for 210 adults with Pompe disease from Australia, Germany, the Netherlands, the United Kingdom, and the United States. SF-36 scores were compared ...

Journal: :Neuromuscular Disorders 2013
N.A.M.E. van der Beek M.L.C. Hagemans A. T. van der Ploeg P. A. van Doorn I.S.J. Merkies

We constructed a patient-based interval scale using Rasch analysis, specifically suited to quantify the effects of Pompe disease on patient's ability to carry out daily life activities and their social participation: Rasch-built Pompe-specific Activity scale. Between July 2005 and April 2011, 186 patients aged 16 or older, participated to develop this scale. External construct validity was dete...

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