Results 81 to 90 of about 1,188 (166)

Similarities and differences in the late-onset GM2 gangliosidoses: Tay-Sachs and Sandhoff diseases. [PDF]

J Neurol
Lewis CJ, Shirvan L, Johnston JM, Groden C, Yang J, Ashton A, Chong J, Moran M, Akmal H, Chipman SI, Zampieri C, Wickstrom J, Matsubara J, Lehky T, Alter KE, Toro C, Tifft CJ.   +16 more
europepmc   +1 more source

Symptomatic Benefit of Acetyl-DL-Leucine for Cerebellar Ataxia in Juvenile Tay-Sachs Disease: A Pediatric Case and Literature Review. [PDF]

Mol Syndromol
Calisgan K, Aghakıshılı HB, Soylu EI, Col TA, Cansever MS, Zubarioglu T, Aktuglu Zeybek AC, Kiykim E.   +7 more
europepmc   +1 more source

[Late-onset manifestation of Tay-Sachs disease-A disease of the cerebellum and motor neurons with psychiatric sequelae]. [PDF]

Nervenarzt
Mengel KE, Mendoza G, Mani L, Deckert J, Arash-Kaps L.   +4 more
europepmc   +1 more source

Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View. [PDF]

Metabolites
Di Carlo G, Tommolini ML, Frisco A, Spalluto G, Foley D, Zucchelli M, Cufaro MC, Cicalini I, Bucci I, Federici L, De Laurenzi V, Pieragostino D, Rossi C.   +12 more
europepmc   +1 more source

Sphingolipidoses: expanding the spectrum of α-synucleinopathies. [PDF]

J Neural Transm (Vienna)
Erskine D, Bronowska AK, Outeiro TF, Attems J.   +3 more
europepmc   +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

Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses. [PDF]

Mol Genet Metab
Kissell J, Rochmann C, Minini P, Eichler F, Stephen CD, Lau H, Toro C, Johnston JM, Krupnick R, Hamed A, Cox GF.   +10 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

Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency. [PDF]

Mol Genet Metab
Beecy SJ, Gross AL, Maguire AS, Hoffman LMK, Diffie EB, Cuddon P, Kell P, Jiang X, Gray-Edwards HL, Martin DR.   +9 more
europepmc   +1 more source

Epigenetic landscape in lysosomal storage disorders: mechanisms and modulation. [PDF]

Front Genet
Leal AF, Pachajoa H, Tomatsu S.
europepmc   +1 more source