Results 101 to 110 of about 2,137 (206)

Symptomatic hyperekplexia: an important clue to neurodegeneration in children. [PDF]

BMJ Case Rep, 2023
Banyal P, Arora M, Saini AG.
europepmc   +1 more source

Seeing What Is Not There: Revisiting a Diagnostic Conundrum in the Clinic. [PDF]

Mov Disord Clin Pract, 2023
Williams LJ, Qiu J, Tchan M, Morris J, Morales-Briceno H, Fung VSC.   +5 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

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease [PDF]

, 2018
et al,, Jiang, Xuntian, Ory, Daniel S
core   +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

Crossing the gates of Babylon: Brain-penetrating enzyme replacement for lysosomal disorders. [PDF]

Mol Ther Methods Clin Dev, 2023
Baldo G.
europepmc   +1 more source

VaProS: a database-integration approach for protein/genome information retrieval [PDF]

core   +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

Hidden Burden of Lipid Accumulation: A Clinical Case of Niemann-Pick Disease. [PDF]

Cureus
Ghonaimat RA, Shneikat A, Foudeh BM, Alsamhouri I.   +3 more
europepmc   +1 more source

A review of gene therapy in canine and feline models of lysosomal storage disorders [PDF]

, 2015
Bradbury, Allison M, Casal, Margret L, Gurda, Brittney L, Haskins, Mark E, Ponder, Katherine P, Vite, Charles H   +5 more
core   +2 more sources