Results 191 to 200 of about 48,564 (222)

The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review. [PDF]

Biomolecules
Tirelli C, Rondinone O, Italia M, Mira S, Belmonte LA, De Grassi M, Guido G, Maggioni S, Mondoni M, Miozzo MR, Centanni S.   +10 more
europepmc   +1 more source

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale. [PDF]

Mol Genet Metab Rep
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg SW, Harmatz P, Hennermann JB, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, LaGorio L, Berry-Kravis E, Porter FD, Solomon B, Himmelstrup L, Mickle T, Guenther S, Dali CÍ.   +22 more
europepmc   +1 more source

Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child. [PDF]

Cureus
Al Shahrani AM, Asiri W, Alqarni SAM, Al Murayeh LM.   +3 more
europepmc   +1 more source

N-Acetyl-l-Leucine (NALL) rescues inter-organelle communication in Niemann-Pick disease type-C patient cells

Kiraly S, Martello A, Platt FM, Eden ER.
europepmc   +1 more source

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Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

Nature Medicine, 2008
Emyr Lloyd-Evans, A. Morgan, Xingxuan He, David A Smith, Elena Elliot-Smith, D. Sillence, G. Churchill, E. Schuchman, A. Galione, F. Platt   +9 more
semanticscholar   +3 more sources

Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.

Seminars in Pediatric Neurology, 2021
Niemann-Pick disease, type C (NPC) is a highly heterogeneous rare neurovisceral storage disease with early infantile, late infantile, juvenile and adult onset forms, and relentlessly progressive neurodegeneration leading to death.
E. Berry-Kravis
semanticscholar   +1 more source

Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.

New England Journal of Medicine
BACKGROUND Niemann-Pick disease type C is a rare lysosomal storage disorder. We evaluated the safety and efficacy of N-acetyl-l-leucine (NALL), an agent that potentially ameliorates lysosomal and metabolic dysfunction, for the treatment of Niemann-Pick ...
T. Bremova-Ertl, U. Ramaswami, Marion M Brands, Tomas Foltan, Matthias Gautschi, P. Gissen, F. Gowing, Andreas Hahn, Simon A Jones, Richard Kay, Miriam Kolniková, Laila Arash-Kaps, Thorsten Marquardt, Eugen Mengel, Julien H. Park, Stella Reichmannová, Susanne A Schneider, S. Sivananthan, Mark Walterfang, P. Wibawa, M. Strupp, K. Martakis   +21 more
semanticscholar   +1 more source