Acid alpha-glucosidase

Results: 42



#Item
1Genetic genealogy / BioMarin Pharmaceutical / Glycogen storage disease type II / Acid alpha-glucosidase / Lysosomal storage disease / Mucopolysaccharidosis / Alglucosidase alfa / Neuronal ceroid lipofuscinosis / Tetrahydrobiopterin / Health / Rare diseases / Medicine

May 27, 2014 BioMarin Doses First Patient in Phase 3 INSPIRE Trial With BMN 701 for the Treatment of Pompe Disease Proprietary Glycosylation Independent Lysosomal Targeting (GILT) Tagging Technology Has Been Shown to Im

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Source URL: www.apjohnventures.com

Language: English - Date: 2014-05-29 15:30:33
2Krabbe disease / Lysosomal storage disease / Glycogen storage disease type II / Galactosylceramidase / Newborn screening / Association of Public Health Laboratories / Acid alpha-glucosidase / Centers for Disease Control and Prevention / Health / Rare diseases / Medicine

Lysosomal Storage Disorder Quarterly Report PROFICIENCY TESTING Volume 3, No. 4

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Source URL: www.cdc.gov

Language: English - Date: 2014-11-19 11:17:57
3Glycogen storage disease type II / Lysosomal storage disease / Acid alpha-glucosidase / Newborn screening / Screening / Medical genetics / Medicine / Health / Rare diseases

EVIDENCE REVIEW: POMPE DISEASE Prepared for: THE ADVISORY COMMITTEE ON HERITABLE DISORDERS IN NEWBORNS AND CHILDREN FINAL V[removed]

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Source URL: www.hrsa.gov

Language: English - Date: 2014-12-04 01:12:52
4Genetic genealogy / Rare diseases / Hepatology / Genetics / Glycogen storage disease type II / Glycogen storage disease type V / Lysosomal storage disease / Genotype / Acid alpha-glucosidase / 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: www.nature.com

Language: English - Date: 2012-01-04 14:12:58
5Autophagy / Programmed cell death / Inborn errors of carbohydrate metabolism / Rare diseases / Hepatology / Glycogen storage disease type II / Acid alpha-glucosidase / Lysosomal storage disease / Lysosome / Biology / Cell biology / Cellular processes

NIH Public Access Author Manuscript Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2013 February 15. NIH-PA Author Manuscript

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2014-03-02 20:04:03
6Hepatology / Gene delivery / Applied genetics / Inborn errors of carbohydrate metabolism / Rare diseases / Glycogen storage disease type II / Adeno-associated virus / Acid alpha-glucosidase / Gene therapy / Biology / Medicine / Health

THE JOURNAL OF GENE MEDICINE RESEARCH ARTICLE J Gene Med 2010;12: 881–891. Published online 22 October 2010 in Wiley Online Library (wileyonlinelibrary.com) DOI: [removed]jgm[removed]Antibody formation and mannose-6-phosp

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2011-06-06 01:04:00
7Rare diseases / Lysosomal storage diseases / Lipid storage disorders / Inborn errors of carbohydrate metabolism / Glycogen storage disease type II / Hepatology / Autophagy / Acid alpha-glucosidase / Enzyme replacement therapy / Biology / Health / Anatomy

Journal List > NIHPA Author Manuscripts Mol Genet Metab. Author manuscript; available in PMC 2010 December 1. Published in final edited form as: Mol Genet Metab[removed]December; 101(4): 324–331. Published online 2010 Au

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2011-05-07 19:52:59
8Peptide hormones / Hepatology / Glycogen storage disease type II / Mannose 6-phosphate / Insulin-like growth factor 1 / Insulin-like growth factor / BioMarin Pharmaceutical / Lysosomal storage disease / Alpha-glucosidase / Biology / Cell biology / Growth factors

Molecular Bases of Disease: Glycosylation-independent Lysosomal Targeting of Acid α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice John A. Maga, Jianghong Zhou, Ravi Kambampati, Susan Peng, Xu Wang, Richar

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2013-07-21 20:12:27
9Rare diseases / Glycogen storage disease type II / Hepatology / Lysosomal storage disease / Acid alpha-glucosidase / Salbutamol / Enzyme replacement therapy / Methadone / Medicine / Chemistry / Health

The FASEB Journal • Research Communication Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease Dwight D. Koeberl,*,1 Stephanie Austin,* Laura E. Case,† Edward C. Smit

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2014-08-13 23:54:32
10Motor neurone disease / Lysosomal storage diseases / Glycogen storage disease type II / Hepatology / Acid alpha-glucosidase / Amyotrophic lateral sclerosis / Ptosis / Health / Rare diseases / Medicine

Wens et al. Orphanet Journal of Rare Diseases 2013, 8:182 http://www.ojrd.com/content[removed]RESEARCH Open Access

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2014-02-22 17:45:50
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