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Documents Niemann-Pick Type C Disease

Niemann-Pick Type C DiseaseDepartment of Pediatrics Follow this and additional works at: http://scholarlyworks.lvhn.org/pediatrics Part of the Neurology Commons, and the

Documents Interstitial lung disease in lysosomal storage disorders

Interstitial lung disease in lysosomal storage disordersRaphaël Borie 1,2, Bruno Crestani1,2, Alice Guyard3 and Olivier Lidove4,5 Number 7 in the Series “Rare

Documents Niemann-Pick Type C disease: protective mechanisms from neurodegeneration and targets for...

neurodegeneration and targets for therapeutic intervention by Chan Chung A dissertation submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy

Documents Adult Niemann-Pick disease type B with myositis ossificans: a case report

Normas260 1. Department of Internal Medicine, Clinic of Rheumatology, Medical University – Sofia, Bulgaria 2. Clinic of Ophthalmology, University Hospital “Alexandrovska”,

Documents Interesting case (Niemann Pick type A) A 7-month-old female infant with hepatosplenomegaly

. .. : : 2 .. : - - 38 2,980 Apgar scores 10, 10 - - - - 24 pth aig as tro .or DM 57 57 : - An active and alert Thai female infant with coarse facial appearance - BW 6.9

Documents Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That...

Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal ExcitabilityThat Regulates Neuronal Excitability hyperexcitable

Documents Anatomically Defined Neuron-Based Rescue of Neurodegenerative Niemann–Pick Type C Disorder

Manuel E. Lopez,1,2,3,4 Andres D. Klein,1,2,3,4 Ubah J. Dimbil,1,2,3,4 and Matthew P. Scott1,2,3,4 Departments of 1Developmental Biology, 2Genetics, and 3Bioengineering and

Documents Review Niemann-Pick disease type C

Niemann-Pick disease type COpen AccessR E V I E W ReviewNiemann-Pick disease type C Marie T Vanier1,2 Abstract Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal

Documents Type C Niemann-Pick Disease

Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol.THE JOURNAL OF BIOLOGICAL CHEMISTRY Vol.

Documents La maladie de Niemann-Pick TYPE C (NP-C)

Juin 2010 - n°2 LA MALADIE DE NIEMANN-PICk TYPE C (NP-C) Diagnostic et signes cliniques La maladie de Niemann-Pick type C (NP-C) est une mala- die de surcharge lysosomale