Results 111 to 120 of about 2,627 (188)

Miglustat [PDF]

, 2020
openaire   +1 more source

Safety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trials. [PDF]

Ther Adv Rare Dis
Andersen H, Díaz-Manera J, Goker-Alpan O, Mozaffar T, Sitaraman Das S, Fox B, Amon F, O'Brien-Prince K, Goldman M, Holdbrook F, Jain V, Byrne BJ.   +11 more
europepmc   +1 more source

Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Rodriguez-Gil JL, Smith WE, Chang IJ, Mendelsohn BA, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

First multicenter real-world analysis of switching to next-generation enzyme replacement therapies in late-onset Pompe disease. [PDF]

J Neurol
Mendelsohn DH, Rosenbohm A, Güttsches AK, Kornblum C, Knop KC, Fangerau T, Nguyen-Younossi N, Shahyrova G, Garcia-Angarita N, Schoser B, Wenninger S.   +10 more
europepmc   +1 more source

Miglustat in Alzheimer's Disease Associated With Heterozygous NPC1 Mutation: Exploratory Case Series and Preliminary Findings. [PDF]

Eur J Neurol
Lopergolo D, Gasparini D, Bianchi S, Pucci B, Tripodi D, Leoni V, Chincarini A, Sestini S, Zetterberg H, De Stefano N, Mignarri A.   +10 more
europepmc   +1 more source

Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3. [PDF]

Neurology
Pietrafusa N, Trivisano M, Calabrese C, De Dominicis A, Cappelletti S, Correale C, Salimbene L, Vallesi L, Corsetti T, Specchio N.   +9 more
europepmc   +1 more source

Visual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 Disease. [PDF]

J Child Neurol
Dutton AE, Whiteman IT, Jones MM, Geering KE, Afshar S, Johnson AM, Grigg JR.   +6 more
europepmc   +1 more source

Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1. [PDF]

Mol Genet Metab
Agrawal N, Bianconi S, Jaeger R, Farhat NY, Alexander DM, Sinaii N, Hadigan C, Berry-Kravis E, Porter FD.   +8 more
europepmc   +1 more source

UDP-glucose ceramide glucosyltransferase promotes radioresistance via membrane reorganization to maintain redox balance in glioblastoma. [PDF]

Br J Cancer
Lee H, Kim D, Kim B, Joung D, Jeon J, Kim TO, Youn H, Youn B.   +7 more
europepmc   +1 more source

Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Baker EK, Derry A, Cohen JL, Chang IJ, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source