Glycogen storage disease

Results: 221



#Item
91Rare diseases / Genetic genealogy / Hepatology / Genetics / Glycogen storage disease type II / Glycogen storage disease type V / Lysosomal storage disease / Acid alpha-glucosidase / Duchenne muscular dystrophy / Health / Inborn errors of carbohydrate metabolism / Medicine

ARTICLE The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease Paola de Filippi, PhD1, Sabrina Ravaglia, MD, PhD2, Bruno Bembi, MD3, Alfredo Costa,

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2010-04-02 02:44:57
92Motor neurone disease / Glycogen storage disease type II / Hepatology / Lysosomal storage disease / Dysphagia / Swallowing / Acid alpha-glucosidase / Amyotrophic lateral sclerosis / Hypotonia / Health / Medicine / Rare diseases

J Inherit Metab Dis DOI[removed]s10545[removed]ORIGINAL ARTICLE Facial-muscle weakness, speech disorders and dysphagia

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2012-01-17 11:57:59
93Immune system / Glycogen storage disease type II / Hepatology / Lysosomal storage disease / Antibody / Alglucosidase alfa / Monoclonal antibodies / Enzyme replacement therapy / Medicine / Health / Biology

Microsoft Word - fig1_FINAL.doc

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2011-01-02 22:46:24
94Inborn errors of carbohydrate metabolism / Health / Carbohydrates / Rare diseases / Mammalian target of rapamycin / Signal transduction / Glycogen storage disease type II / Glycogen / Sirolimus / Biology / Hepatology / Medicine

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2010-08-10 22:01:15
95Knowledge / Glycogen storage disease type II / Rasch model / Item response theory / Patient-reported outcome / Scale / Acid alpha-glucosidase / Rasch / Level of measurement / Psychometrics / Statistics / Education

ARTICLE IN PRESS Available online at www.sciencedirect.com Neuromuscular Disorders xxx[removed]xxx–xxx www.elsevier.com/locate/nmd

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2013-08-24 22:47:13
96Rare diseases / Nociception / Glycogen storage disease type II / Hepatology / Acid alpha-glucosidase / Fabry disease / Lysosomal storage disease / Chronic pain / Medicine / Health / Pain

Pain in adult patients with Pompe disease

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2013-08-24 22:34:38
97Rare diseases / Organelles / Cellular processes / Autophagy / Programmed cell death / Lysosomal storage diseases / Lysosome / Endosome / Glycogen storage disease type II / Biology / Cell biology / Health

Research Article TRANSPARENT PROCESS New therapeutic target in Pompe disease

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2013-05-26 18:20:03
98Motor 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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Source URL: amdapompe.ehclients.com

Language: English - Date: 2011-09-30 19:07:13
99Radiology / Osteopathies / Osteoporosis / Dual-energy X-ray absorptiometry / Bone density / Glycogen storage disease type II / Bone / Alendronic acid / Lysosomal storage disease / Medicine / Health / Aging-associated diseases

BON-08922; No. of pages: 7; 4C: Bone xxx[removed]xxx–xxx Contents lists available at ScienceDirect Bone

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2010-07-21 22:19:11
100Rare diseases / Glycogen storage disease type II / Hepatology / Alglucosidase alfa / Genzyme / Anaphylaxis / Hypersensitivity / William Canfield / Medicine / Health / Allergology

PRESS RELEASE For Immediate Release August 1, 2014 Media Contact:

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2014-08-01 16:22:04
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