Results 131 to 140 of about 1,365 (178)

Losartan API and Nitrosamines Impurities-Stability Profile Investigation Using HPLC, LC-MS, and In Silico Assessment. [PDF]

J Sep Sci
Martini PRR, Machioli LF, Santos BPD, Oliveira TF, Paula FR, Paim CS, Mendez ASL.   +6 more
europepmc   +1 more source

Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease. [PDF]

Ophthalmol Sci
Huey J, Gupta P, Wendel B, Liu T, Bharadwaj P, Schwartz H, Kelly JP, Chang I, Chao JR, Sabesan R, Nagiel A, Mustafi D.   +11 more
europepmc   +1 more source

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing. [PDF]

Genes (Basel)
Chałupczyńska B, Ciara E, Halat-Wolska P, Pollak A, Stawiński P, Jurkiewicz D, Piekutowska-Abramczuk D, Gawlik M, Pietrasik J, Cieślikowska A, Wicher D, Ulatowska A, Jedlińska D, Borkowska J, Chmielewski D, Dunin-Wąsowicz D, Kotulska-Jóźwiak K, Chrzanowska K, Madej-Pilarczyk A.   +18 more
europepmc   +1 more source

Naturally occurring lysosomal storage disease consistent with neuronal ceroid lipofuscinosis in a group of 5 related captive rhesus macaques (<i>Macaca mulatta</i>). [PDF]

Vet Pathol
Olstad K, Pastenkos G, Barrera-Zarate J, Kanthaswamy S, Sammak R, Lemoy MJ.   +5 more
europepmc   +1 more source

Miglustat in Neuronopathic Lysosomal Storage Disorders: Biological Rationale, Clinical Evidence, and Limits of Repurposing. [PDF]

Int J Mol Sci
Lipiński P, Węgrzyn G.
europepmc   +1 more source

CoxKAN: Kolmogorov-Arnold networks for interpretable, high-performance survival analysis. [PDF]

Bioinformatics
Knottenbelt W, McGough W, Wray R, Zhang WZ, Liu J, Machado IP, Gao Z, Crispin-Ortuzar M.   +7 more
europepmc   +1 more source

Unifying biology of neurodegeneration in lysosomal storage diseases. [PDF]

J Inherit Metab Dis
Ludlaim AM, Waddington SN, McKay TR.
europepmc   +1 more source

Investigation of the Batten Disease protein CLN6.

openaire   +1 more source

Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature. [PDF]

Neurol Genet
Ghayal NB, Roemer SF, Tipton PW, Jiang P, Selner EM, Peck DS, Murakami A, Oglesbee D, Graff-Radford NR, Dickson DW.   +9 more
europepmc   +1 more source