Results 111 to 120 of about 7,809 (216)

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. [PDF]

J Lipid Res
Sidorina A, Catesini G, Deodato F, Boenzi S, Martinelli D, Rizzo C, Dionisi-Vici C.   +6 more
europepmc   +1 more source

Correction: Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats. [PDF]

Front Vet Sci
Miguel-Garcés M, Gonçalves R, Quintana R, Álvarez P, Beckmann KM, Alcoverro E, Moioli M, Ives EJ, Madden M, Gomes SA, Galban E, Bentley T, Santifort KM, Vanhaesebrouck A, Briola C, Montoliu P, Ibaseta U, Carrera I.   +17 more
europepmc   +1 more source

GM2 Gangliosidosis AB Variant: A Hidden Truth. [PDF]

Cureus
Noites I, Coelho AS, Magalhães C, Ramos S, Laranjeira F, Lacerda L, Taipa R, Garrido C, Temudo T, Figueiroa S.   +9 more
europepmc   +1 more source

DNA testing and domestic dogs [PDF]

, 2011
Cathryn Mellersh
core   +1 more source

Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot. [PDF]

Am J Ophthalmol Case Rep
Tsutsumi N, Sakata S, Ikari R, Ebihara N.   +3 more
europepmc   +1 more source

Evaluation and treatment of severe hyperacusis [PDF]

, 2000
Duddy, Diane, Goebel, Joel, Peterin, Judy, Sinks, Belinda, Valente, Michael   +4 more
core   +1 more source

Bioprinting neural tissue to decode Sandhoff disease: promise and barriers. [PDF]

Ann Med Surg (Lond)
Ullah SH, Waqas M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

Elevated plasma chitotriosidase activity in various lysosomal storage disorders [PDF]

, 1995
Aerts, J.M.F.G. (Johannes), Boer, A.M., Bruijn, A.M. (A.) de, Diggelen, O.P. (Otto) van, Galjaard, H. (Hans), Groener, J.E.M. (Johanna), Guo, Y. (Yongli), He, W. (Wanyuan), Hollak, C.E.M. (Carla), Wevers, R.A. (Ron)   +9 more
core   +1 more source

Novel insights into pathomechanisms of retinal neuronal degeneration and reactive gliosis in a murine model of G_M1-gangliosidosis. [PDF]

Sci Rep
Jubran L, Wannemacher R, Ulianytska A, Gerhauser I, Baumgärtner W, Leitzen E.   +5 more
europepmc   +1 more source

The Primary Structur of the Haemoglobin of the African Elephant (Loxodonta africana, Proboscidae) [PDF]

, 1984
Braunitzer, G., Krombach, C., Schrank, B., Stangl, A., Wiesner, Henning   +4 more
core