Literature DB >> 25998612

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.

Benedikt Schoser1, Pascal Laforêt2, Michelle E Kruijshaar3, Antonio Toscano4, Pieter A van Doorn5, Ans T van der Ploeg6.   

Abstract

Mesh：

Year:  2015        PMID： 25998612     DOI： 10.1016/j.nmd.2015.04.006

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  8 in total

1.  Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach.

Authors:  Giovanni Iolascon; Michele Vitacca; Elena Carraro; Carmelo Chisari; Pietro Fiore; Sonia Messina; Tiziana Mongini; Antimo Moretti; Valeria A Sansone; Antonio Toscano; Gabriele Siciliano
Journal:  Neurol Sci       Date:  2019-12-07       Impact factor: 3.307

2.  Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study.

Authors:  Michael Vaeggemose; Rosa Andersen Mencagli; Julie Schjødtz Hansen; Bianca Dräger; Steffen Ringgaard; John Vissing; Henning Andersen
Journal:  PeerJ       Date:  2021-05-06       Impact factor: 2.984

3.  Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease.

Authors:  Tim A Kanters; Ans T van der Ploeg; Michelle E Kruijshaar; Dimitris Rizopoulos; W Ken Redekop; Maureen P M H Rutten-van Mӧlken; Leona Hakkaart-van Roijen
Journal:  Orphanet J Rare Dis       Date:  2017-12-13       Impact factor: 4.123

4.  Identification of serum microRNAs as potential biomarkers in Pompe disease.

Authors:  Ana Carrasco-Rozas; Esther Fernández-Simón; Maria Cinta Lleixà; Izaskun Belmonte; Irene Pedrosa-Hernandez; Elena Montiel-Morillo; Claudia Nuñez-Peralta; Jaume Llauger Rossello; Sonia Segovia; Noemí De Luna; Xavier Suarez-Calvet; Isabel Illa; Jordi Díaz-Manera; Eduard Gallardo
Journal:  Ann Clin Transl Neurol       Date:  2019-06-12       Impact factor: 4.511

5.  Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.

Authors:  Monica Y Niño; Stijn L M In 't Groen; Atze J Bergsma; Nadine A M E van der Beek; Marian Kroos; Marianne Hoogeveen-Westerveld; Ans T van der Ploeg; W W M Pim Pijnappel
Journal:  Hum Mutat       Date:  2019-07-29       Impact factor: 4.878

6.  Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany.

Authors:  Benedikt Schoser; Pascal Laforêt; Michelle E Kruijshaar; Antonio Toscano; Pieter A van Doorn; Ans T van der Ploeg
Journal:  Acta Myol       Date:  2015-12

7.  The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage.

Authors:  Anna Ambrosini; Daniela Calabrese; Francesco Maria Avato; Felice Catania; Guido Cavaletti; Maria Carmela Pera; Antonio Toscano; Giuseppe Vita; Lucia Monaco; Davide Pareyson
Journal:  Orphanet J Rare Dis       Date:  2018-10-04       Impact factor: 4.123

8.  Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.

Authors:  P Vanherpe; S Fieuws; A D'Hondt; C Bleyenheuft; P Demaerel; J De Bleecker; P Van den Bergh; J Baets; G Remiche; K Verhoeven; S Delstanche; M Toussaint; B Buyse; P Van Damme; C E Depuydt; K G Claeys
Journal:  Orphanet J Rare Dis       Date:  2020-04-05       Impact factor: 4.123
  8 in total

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