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Lysosomal storage diseases / Inborn errors of carbohydrate metabolism / Glycogen storage disease type II / Hepatology / Acid alpha-glucosidase / Limb-girdle muscular dystrophy / Muscular dystrophy / Amyotrophic lateral sclerosis / Health / Rare diseases / Medicine


"DUB.ZPMPHJDBt999**Q EDITORIAL Early is better? A new algorithm for early diagnosis
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Document Date: 2014-02-22 17:32:25

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City

Kroos / Winchester / /

Country

France / Italy / /

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Facility

University of Messina / /

IndustryTerm

rapid diagnostic tools / diagnostic algorithm / modified algorithm / /

MedicalCondition

neuromuscular disorders / lysosomal storage disorder / rapidly progressive muscle weakness / respiratory failure / disease / headache / myopathy / severe cardiac hypertrophy / Late-onset Pompe Disease / dysphagia / Glycogen Storage Disease type II / A (GAA) deficiency / recurrent pneumonias / axial muscle weakness / macroglossia / excessive fatigue / neuromuscular disease / Glycogen Storage Disease / facial muscle weakness / rare autosomal recessive disorder / disorder / respiratory insufficiency / hypotonia / Infantile Onset Pompe Disease / deficiency / Late Onset Pompe Disease / infections / back pain / cerebral aneurysms / Pompe disease / scoliosis / hearing impairment / glycogenosis type II / /

MedicalTreatment

Enzyme Replacement Therapy / counseling / /

Organization

University of Messina / US Food and Drug Administration / Department of Neurosciences / European Medicine Agency / /

Person

Antonio Toscano / Olimpia Musumeci / Van Der Ploeg / Federica Montagnese / /

Position

Advisors / RT / chair / /

ProvinceOrState

Bali / Massachusetts / /

Technology

Alpha / newly modified algorithm / genotype / LOPD diagnostic algorithm / /

SocialTag