Literature DB >> 15985590

Disease severity in children and adults with Pompe disease related to age and disease duration.

M L C Hagemans1, L P F Winkel, W C J Hop, A J J Reuser, P A Van Doorn, A T Van der Ploeg.   

Abstract

Information about 255 children and adults with Pompe disease was gathered through a questionnaire. Disease severity was associated with disease duration and not with age; an early manifestation of the disease implied earlier wheelchair or ventilator dependency. The patient group under age 15 included a subgroup with a more severe and rapid course of the disease. They require more intensive follow-up and early intervention, before irreversible damage has occurred.

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Year:  2005        PMID： 15985590     DOI： 10.1212/01.WNL.0000165979.46537.56

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  46 in total

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Journal:  Curr Neurol Neurosci Rep       Date:  2012-02       Impact factor: 5.081

Review 2.  Imaging of Left Ventricular Hypertrophy: a Practical Utility for Differential Diagnosis and Assessment of Disease Severity.

Authors:  Toru Kubo; Hiroaki Kitaoka
Journal:  Curr Cardiol Rep       Date:  2017-08       Impact factor: 2.931

3.  Stimulation of Respiratory Motor Output and Ventilation in a Murine Model of Pompe Disease by Ampakines.

Authors:  Mai K ElMallah; Silvia Pagliardini; Sara M Turner; Anthony J Cerreta; Darin J Falk; Barry J Byrne; John J Greer; David D Fuller
Journal:  Am J Respir Cell Mol Biol       Date:  2015-09       Impact factor: 6.914

4.  Inspiratory Muscle Training in Late-Onset Pompe Disease: The Effects on Pulmonary Function Tests, Quality of Life, and Sleep Quality.

Authors:  Goksen Kuran Aslan; Burcu Ersoz Huseyinsinoglu; Piraye Oflazer; Nilgun Gurses; Esen Kiyan
Journal:  Lung       Date:  2016-04-22       Impact factor: 2.584

5.  Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease.

Authors:  J C van der Meijden; D Güngör; M E Kruijshaar; A D J Muir; H A Broekgaarden; A T van der Ploeg
Journal:  J Inherit Metab Dis       Date:  2014-08-12       Impact factor: 4.982

6.  Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease.

Authors:  Nina Raben; Cynthia Schreiner; Rebecca Baum; Shoichi Takikita; Sengen Xu; Tao Xie; Rachel Myerowitz; Masaaki Komatsu; Jack H Van der Meulen; Kanneboyina Nagaraju; Evelyn Ralston; Paul H Plotz
Journal:  Autophagy       Date:  2010-11       Impact factor: 16.016

7.  Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.

Authors:  Laura Deroma; Mattia Guerra; Annalisa Sechi; Giovanni Ciana; Giorgia Cisilino; Andrea Dardis; Bruno Bembi
Journal:  Eur J Pediatr       Date:  2014-01-07       Impact factor: 3.183

8.  Fatigue: an important feature of late-onset Pompe disease.

Authors:  Marloes L C Hagemans; Sabine P M van Schie; A Cecile J W Janssens; Pieter A van Doorn; Arnold J J Reuser; Ans T van der Ploeg
Journal:  J Neurol       Date:  2007-03-02       Impact factor: 4.849

Review 9.  Fatigue in neuromuscular disorders: focus on Guillain-Barré syndrome and Pompe disease.

Authors:  J M de Vries; M L C Hagemans; J B J Bussmann; A T van der Ploeg; P A van Doorn
Journal:  Cell Mol Life Sci       Date:  2010-03       Impact factor: 9.261

10.  Molecular genetics of late onset glycogen storage disease II in Italy.

Authors:  M G Pittis; M Filocamo
Journal:  Acta Myol       Date:  2007-07
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