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Motor neurone disease / Glycogen storage disease type II / Hepatology / Amyotrophic lateral sclerosis / Stroke / Swallowing / Muscular dystrophy / Ptosis / Myasthenia gravis / Health / Rare diseases / Medicine


EXPANDING THE PHENOTYPE OF LATE-ONSET POMPE DISEASE: TONGUE WEAKNESS: A NEW CLINICAL OBSERVATION ALBERTO DUBROVSKY, MD,1 JOSE CORDERI, PhT,1 MIN LIN, PhD,2 PRIYA S. KISHNANI, MBBS, MD,3 and HARRISON N. JONES, PhD4 1
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Document Date: 2011-09-30 19:07:13


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City

New York / Philadelphia / Munich / Washington / Buenos Aires / Durham / Florence / /

Company

IOPI Northwest Co. / Carnation / Winkel LP / Winkle LP / Cox / Kays SA / C 2011 Wiley Periodicals Inc. / /

Country

Germany / United States / Argentina / /

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Event

FDA Phase / /

Facility

Duke University / Wiley Online Library / /

IndustryTerm

medical insurance / magnetic resonance imaging / treatment for this devastating disease / treatment of Pompe disease / Online Library / /

MedicalCondition

neuromuscular disorders / muscular dystrophy / Dysarthria / infantile Pompe disease / respiratory fatigue / late-onset Pompe’s disease / neuromuscular diseases / dysarthria present / Pompe Functional symptoms Asymptomatic Asymptomatic Mild dysphagia / muscle diseases / increased coughing / Peripheral Neuropathy / neuromuscular disease / glycogen storage disease / Severe dysarthria / pulmonary function testing / glycogen-storage disease / eyelid ptosis / dysarthria treatment / Late onset Pompe disease / infantile-onset Pompe disease / another axial disease / Pompe disease / disease / adult-onset Pompe disease / dyspnea / late-onset Pompe disease / dysphagia / pulmonary function / stroke / define disease / macroglossia / swallowing disorders / lingual muscle atrophy / Later-onset Pompe disease / rare autosomal recessive neuromuscular disease / EXPANDING THE PHENOTYPE OF LATE-ONSET POMPE DISEASE / direct questioning Overt dysphagia / confirmed disease / fasciculations / /

MedicalTreatment

enzyme replacement therapy / drainage / /

Organization

Argentina Department of Biostatistics and Bioinformatics / Department of Pediatrics / Instituto de Neurociencias / Duke University / Durham / Department of Neuroimaging / Division of Medical Genetics / European Union / Department of Surgery / /

Person

Daniela Binaghi / HARRISON N. JONES / ALBERTO DUBROVSKY / /

Position

de Clerk / head / treating physician / /

Product

Myozyme / USA / /

ProvinceOrState

Washington / North Carolina / /

Technology

alpha / Bioinformatics / MRI / magnetic resonance imaging / /

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