Lysosomal storage disease

Results: 211



#Item
41Genetic 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
42Mucopolysaccharidosis / Hurler syndrome / Iduronidase / Lysosomal storage disease / Coarse facial features / BioMarin Pharmaceutical / Enzyme replacement therapy / Hurler–Scheie syndrome / Methadone / Health / Syndromes / Medicine

Review - Laronidase (Aldurazyme)

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Source URL: www.fda.gov

Language: English
43Channelopathy / Mucolipidosis type IV / MCOLN1 / National Institutes of Health / Mucolipidosis / Lysosomal storage disease / Gene therapy / Medicine / Biology / Health

PDF Document

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Source URL: www.ml4.org

Language: English - Date: 2011-11-17 22:12:35
44Organ failure / Lipid storage disorders / Rare diseases / Fabry disease / Kidney diseases / Chronic kidney disease / Enzyme replacement therapy / Renal function / Lysosomal storage disease / Health / Anatomy / Medicine

Microsoft PowerPoint - Fabry Figures reworked bb.ppt

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Source URL: www.fabry.org

Language: English - Date: 2014-12-04 03:16:52
45Pediatrics / Lipid storage disorders / Medical genetics / Lysosomal storage disease / Newborn screening / Inborn error of metabolism / Genetic disorder / Cystic fibrosis / Enzyme replacement therapy / Health / Medicine / Rare diseases

Microsoft Word - Document1

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Source URL: www.hrsa.gov

Language: English - Date: 2014-12-04 01:13:21
46Hepatology / Lysosomal storage diseases / Glycogen storage disease type II / Health / Rare diseases / Medicine

Newborn Screening for Pompe Disease: Preliminary Evidence Review and Public Health Impact Assessment Alex R. Kemper, MD, MPH, MS January 31, 2013

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Source URL: www.hrsa.gov

Language: English - Date: 2014-12-04 01:13:49
47Glycosaminoglycans / Hyaluronan / Medical research / Canadian Association for Laboratory Animal Science / Animal testing / Veterinary physician / Lysosomal storage disease / Hyaluronidase / Scientific method / Science / Biology

VETERINARY SERVICES NEWS WINTER 2013 VOLUME 3, ISSUE 1 Office of the Vice-President (Research and International)

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Source URL: www.umanitoba.ca

Language: English - Date: 2014-11-20 16:34:28
48Lysosomal storage disease / Lysosome / Ege University / Biology / Autophagy / Programmed cell death

SCIENTIFIC COORDINATORS Scientific Coordinators Prof. Michael Przybilski, PhD Department of Chemistry, University of Konstanz, Germany Prof. Eser Yıldırım Sözmen, MD, PhD

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Source URL: www.febs-lysosome.org

Language: English - Date: 2014-04-08 09:14:30
49Mind control / Novartis / Lysosomal storage disease / Genzyme / Art / Hope /  British Columbia / British Columbia / Pharmaceutical industry / Technology / Eli Lilly and Company / Entheogens / Lysergic acid diethylamide

The Fabry Support & information Group and Genzyme announce Expression of Hope III – STARTING IN SEPTEMBER! The Fabry Support & Information Group is proud to be taking part in a wonderful program called Expression of Ho

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Source URL: www.fabry.org

Language: English - Date: 2014-12-03 11:20:28
50Genodermatoses / Schindler disease / Lysosomal storage disease / Infantile neuroaxonal dystrophy / Rare diseases / Health / Lipid storage disorders

Climb National Information Centre for Metabolic Diseases Schindler Disease Other names that are used for this condition are: • Alpha-GalNAc Deficiency, Schindler Type • Alpha-Galactosidase B Deficiency

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Source URL: www.climb.org.uk

Language: English - Date: 2014-03-19 09:32:39
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