Lipid storage disorders

Results: 265



#Item
71Niemann–Pick disease / Motor neurone disease / Degenerative disease / Amyotrophic lateral sclerosis / Niemann-Pick disease /  type C / Epididymal secretory protein E1 / Health / Rare diseases / Lipid storage disorders

NNPDF COLLABORATIVE STUDY – KAREN QUANDT, RN, MN Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C Final Progress Report – Lay Summary Thank you to all the families that participated in

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Language: English - Date: 2011-06-22 13:11:55
72Rare 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

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

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Language: English - Date: 2010-06-08 17:44:24
73Membrane biology / Phospholipids / Sphingomyelin / Niemann–Pick disease / Lysosome / Lysosomal storage disease / Niemann-Pick disease /  SMPD1-associated / Sphingomyelin phosphodiesterase 1 / Biology / Lipid storage disorders / Rare diseases

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

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Language: English - Date: 2010-04-26 15:40:14
74Neurophysiology / Neurons / Cellular neuroscience / Lipid storage disorders / Dendritic spine / Sphingomyelin / Niemann–Pick disease / Dendrite / Lysosome / Biology / Neuroscience / Nervous system

NNPDF-Funded Research Grant # 43 TITLE: Analysis of Dendritic Spine Alterations in Niemann-Pick Disease Type A Neurons PROJECT INVESTIGATOR: Maria D. Ledesma, Ph.D. PERIOD: [removed]2007 PROJECT DESCRIPTION

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Language: English - Date: 2010-04-26 15:39:24
75Medicine / Neurodegenerative disorders / Niemann–Pick disease / Miglustat / Cataplexy / Health / Lipid storage disorders / Rare diseases

|Barb Vorpahl FDA Presentation January 12, 2010 Good Afternoon. My name is Barb Vorpahl, and I am chair of the National Niemann-Pick Disease Foundation. My husband and Gary and I also had a daughter, Stacey who died at t

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Language: English - Date: 2010-01-14 15:59:00
76Health / Niemann–Pick disease / Donation / Fundraiser / Causes / Medicine / Economics / Fundraising / Lipid storage disorders / Rare diseases

NATIONAL NIEMANN-PICK DISEASE FOUNDATION, INC. NNPDF 401 Madison Avenue P.O. Box 49 Fort Atkinson, WI 53538

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Language: English - Date: 2013-09-25 12:46:18
77Medicine / Neurodegenerative disorders / Non-steroidal anti-inflammatory drugs / Lysosomal storage disease / Niemann–Pick disease / NPC1 / Miglustat / Sandhoff disease / Aspirin / Health / Lipid storage disorders / Rare diseases

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

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Language: English - Date: 2010-04-26 15:39:37
78Chemistry / Lipid storage disorders / Membrane biology / Ceramide / Rare diseases / Sphingomyelin / Niemann–Pick disease / Lysosome / Lipid / Biology / Lipids / Biochemistry

NNPDF-Funded Research Grant # 31 TITLE: Niemann-Pick Disease Type A: Molecular Analysis of Neuronal Membrane Maturation and Synapse Formation PROJECT INVESTIGATOR: Maria D. Ledesma, Ph.D. PERIOD: [removed]2003

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Language: English - Date: 2010-04-26 15:37:50
79Rare diseases / Nutrition / Steroids / Sterols / Chemistry / Cholesterol / Niemann–Pick disease / Lipid / Rab / Health / Lipid storage disorders / Biology

NNPDF-Funded Research Grant # 37 TITLE: Reduction of stored lipids in Niemann-Pick Type C mice by rab protein expression PROJECT INVESTIGATOR: Richard E. Pagano, Ph.D. and David L. Marks, Ph.D. PERIOD: [removed]200

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Language: English - Date: 2010-04-26 15:38:33
80Medicine / NPC1 / Lipid storage disorders / Rare diseases / Medical terms / Niemann–Pick disease / Purkinje cell / Neuron / Gene therapy / Biology / Anatomy / Cerebellum

NNPDF-Funded Research Grant # 32 TITLE: Therapeutic Gene Delivery to the Cerebellum in Niemann-Pick Type C PROJECT INVESTIGATOR: Timothy M. Cox, MD, FRCP, FMedSci & Robin Henry Lachmann, M.A., M.B., Bchir, Ph.D. PERIOD:

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Language: English - Date: 2010-04-26 15:37:58
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