Results 111 to 120 of about 3,855 (201)

A Niemann-Pick betegség felnőtt pszichiátriai vonatkozásai [PDF]

, 2015
Döme, Péter, Faludi, Gábor, Gonda, Xénia   +2 more
core  

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

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker [PDF]

, 2014
Al Eisa, Nada, Cousins, Alison, et al.,, Hartung, Ralf, Hendriksz, Christian J, Jiang, Xuntian, Lachmann, Robin H, Mengel, Eugen, Ory, Daniel S, Sidhu, Rohini, Simmons, Louise, Smith, David A, Speak, Anneliese O, te Vruchte, Danielle, Wallom, Kerri L   +14 more
core   +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

Miglustat [PDF]

, 2020
openaire   +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

A Niemann-Pick betegség felnőtt pszichiátriai vonatkozásai [PDF]

, 2013
Döme, Péter, Faludi, Gábor, Gonda, Xénia   +2 more
core  

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

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

NEO1 modulates the A1 astrocyte polarization in subarachnoid hemorrhage through the cPLA2-MAVS signaling pathway. [PDF]

J Neuroinflammation
Wu Y, Wei B, Jin L, Li L, Yang Z, Li C, Zhou J, Gong W, Feng X, Guo S, Cheng W, Li R, Liang S, Su S, Jin F, Zhang X, Liu Y, Duan C, Li X, Liu W.   +19 more
europepmc   +1 more source