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Lysosomal storage disease
Results: 211

#	Item
91	Orphanet Journal of Rare Diseases This Provisional PDF corresponds to the article as it appeared upon acceptance. Fully formatted PDF and full text (HTML) versions will be made available soon. Niemann-Pick disease type Add to Reading List Source URL: www.nnpdf.org Language: English - Date: 2010-06-08 17:44:24 Rare diseases NPC1 Niemann–Pick disease Niemann-Pick disease type C Lysosomal storage disease Epididymal secretory protein E1 Hepatosplenomegaly Cataplexy Splenomegaly Health Medicine Lipid storage disorders
92	Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France Add to Reading List Source URL: amdapompe.ehclients.com Language: English - Date: 2013-05-26 18:38:43 Glycogen storage disease type II Enzyme replacement therapy Lysosomal storage disease Spirometry Amyotrophic lateral sclerosis Fabry disease Alglucosidase alfa ERT Health Medicine Rare diseases
93	National Niemann-Pick Disease Foundation Grant #48 Six-Month Progress: Lay Summary – Edward H. Schuchman, PhD The goal of our research is to create a new mouse model of Type A NPD. This mouse will make an abnormal (or Add to Reading List Source URL: www.nnpdf.org Language: English - Date: 2010-04-26 15:40:14 Membrane biology Phospholipids Sphingomyelin Niemann–Pick disease Lysosome Lysosomal storage disease Niemann-Pick disease SMPD1-associated Sphingomyelin phosphodiesterase 1 Biology Lipid storage disorders Rare diseases
94	Orphanet Journal of Rare Diseases This Provisional PDF corresponds to the article as it appeared upon acceptance. Fully formatted PDF and full text (HTML) versions will be made available soon. Survival and associated fa Add to Reading List Source URL: amdapompe.ehclients.com Language: English - Date: 2011-06-05 21:33:58 Hepatology Glycogen storage disease type II Medical terms Lysosomal storage disease Five-year survival rate Amyotrophic lateral sclerosis Health Medicine Rare diseases
95	"DUB.ZPMPHJDBt999Q EDITORIAL Early is better? A new algorithm for early diagnosis Add to Reading List Source URL: amdapompe.ehclients.com Language: English - Date: 2014-02-22 17:32:25** 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
96	Grant #45 Frances M. Platt University of Oxford Evaluation of anti-inflammatory intervention (NSAIDS) as an adjunctive therapy in Niemann-Pick type C1 disease Lysosomal storage diseases are severe disorders that typicall Add to Reading List Source URL: www.nnpdf.org Language: English - Date: 2010-04-26 15:39:37 Medicine Neurodegenerative disorders Non-steroidal anti-inflammatory drugs Lysosomal storage disease Niemann–Pick disease NPC1 Miglustat Sandhoff disease Aspirin Health Lipid storage disorders Rare diseases
97	RESEARCH ARTICLE A Large-Scale Nationwide Newborn Screening Program for Pompe Disease in Taiwan: Towards Effective Diagnosis and Treatment Chia-Feng Yang,1 Hao-Chuan Liu,1 Ting-Rong Hsu,1,2 Fang-Chih Tsai,1 Sheng-Fong C Add to Reading List Source URL: amdapompe.ehclients.com Language: English - Date: 2014-02-22 17:37:46 Chemical pathology Inborn errors of carbohydrate metabolism Glycogen storage disease type II Hepatology Lysosomal storage disease Acid alpha-glucosidase Hypotonia Alglucosidase alfa Lactate dehydrogenase Medicine Health Rare diseases
98	NNPDF-Funded Research Grant # 46 TITLE: Additional contribution to LSD Research Consortium for research into issues of common interest to all LSD support groups (See also Grant # 40) PROJECT INVESTIGATOR: Multiple PERIOD Add to Reading List Source URL: www.nnpdf.org Language: English - Date: 2010-04-26 15:39:48 Rare diseases National Institutes of Health Lysosomal storage disease Blood–brain barrier National Institute of Neurological Disorders and Stroke Gene therapy Alpha-mannosidosis Biology Medicine Health
99	Intrapleural Administration of AAV9 Improves Neural and Cardiorespiratory Function in Pompe Disease Add to Reading List Source URL: amdapompe.ehclients.com Language: English - Date: 2013-07-21 20:08:21 Gene delivery Applied genetics Rare diseases Glycogen storage disease type II Hepatology Acid alpha-glucosidase Lysosomal storage disease Adeno-associated virus Gene therapy Medicine Biology Health
100	Guide to Understanding Metachromatic Leukodystrophy Contents • • • Add to Reading List Source URL: www.mpssociety.org.uk Language: English - Date: 2013-06-10 10:14:56 Metachromatic leukodystrophy Lysosomal storage disease Arylsulfatase A Sulfatide Prosaposin Leukodystrophy Sulfatidosis Mucopolysaccharidosis Multiple sulfatase deficiency Health Lipid storage disorders Rare diseases

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