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Glycogen storage disease type II / Lysosomal storage disease / Alglucosidase alfa / Amyotrophic lateral sclerosis / Health / Rare diseases / Medicine


Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening
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Document Date: 2013-05-26 18:23:02

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File Size: 683,69 KB

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City

Nijmegen / Louisville / Leiden / Rotterdam / Amsterdam / Florence / Geneva / Würzburg / Cambridge / Haren / Chicago / /

Company

Classic / M.L. Hagemans L.P. / M. Wasserstein S.A. / Elsevier Inc. / A.C. Janssens L.P. / Oxford University Press / Academic Medical Center / Orphan Drugs / SPSS / J.H. Kamphoven L.P. / Marloes L.C. / Lilly / Erasmus MC / Capelle N.A. / M.L.C. / Erasmus MC University Medical Center / Genzyme Corporation / Top Institute Pharma / Shire Corporation / Interpharm Holdings Inc. / /

Continent

Europe / /

Country

Netherlands / Taiwan / Germany / Austria / United States / /

/

Event

FDA Phase / Product Issues / Business Partnership / /

Facility

Erasmus MC University Medical Center / Utrecht University Medical Center / Clinical Genetics/EMGO Institute / Dutch Centre / VU University Medical Center / /

IndustryTerm

healthcare research / treatment for Pompe disease / consulting services / treatment of Pompe disease / treatment of Pompe's disease / therapy for Pompe disease / technology transfer / Patient / /

MedicalCondition

classic infantile Pompe disease muscle biopsies / hypertrophic cardiomyopathy / late-onset Pompe's disease / conductive hearing loss / lysosomal storage disorders / cardiac dysfunction / Introduction Pompe disease / advanced Pompe disease / cardiac hypertrophy / cardiomyopathy / autosomal recessive lysosomal storage disorder / Late-onset Pompe disease / pulmonary function / classic infantile Pompe disease / Peripheral Nerve Injuries / classic infantile disease / diseases / Later-onset Pompe disease / Generalized hypotonia / Lysosomal Storage Diseases / Pompe's disease / non-classic Pompe's disease / adult-onset diseases / girdle myopathy / muscle weakness / disease manifestations / severe hypotonia / Glycogen storage disease / hearing loss / infantile-onset Pompe disease / Pompe disease / sensoneuronal hearing loss / disease / Prevent Disease / sickness / infantile Pompe's disease / /

MedicalTreatment

counselling / enzyme replacement therapy / /

OperatingSystem

Microsoft Windows / /

Organization

World Health Organization / Centre for Medical Systems Biology / Dutch Steering Committee on Orphan Drugs / Department of Clinical Genetics / Scientific Foundation for Using Genetic Information / Dutch Health Care Insurance Board / Division of Metabolic / Center for Lysosomal and Metabolic Diseases / World Health Organisation / Dutch Centre / European Union / Oxford University / Department of Clinical Genetics/EMGO Institute for Health and Care Research / Group of Eight / Prinses Beatrix Fund / VU University Medical Center / European Respiratory Society / Department of Pediatrics / European Unions' Executive Agency for Health and Consumers / Utrecht University Medical Center / Department of Neurology / Eur. / Medical Research Council / American Society of Echocardiography / International Pompe Association / Division of Metabolic Diseases and Genetics / Dutch Association for Neuromuscular Diseases / /

Person

W. Hop / K. Nozaki / I. van Capelle / P.A. Van Doorn / V / Stephanie S. Weinreich / Piet Kostense / Carla G. van El / Marion Brands / George Ruijter / T. van der Ploeg / J. Van Corven / J.A. Smeitink / Alberta Infant / Linda van den Berg / R.J. van der Ploeg / V / P.J. Byrne / H. van der Hoeven / J. Hankinson / V / J. Inherit / Deniz Güngör / A. Van Doorn / Carin M. van Gelder / B. de Klerk / T.F. Metz / V / Martina C. Cornel / /

Position

chair of the working group / representative / principal investigator / Corresponding author / chair / G.P. / chair of the Dutch National Program Committee / D.J. / /

Product

MEC2007-103 / health status / Europe / T6-208 / /

Technology

Human Genome / genotype / alpha / Genomics / drug development / /

URL

www.elsevier.com/locate/ymgme / http /

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