Results 91 to 100 of about 1,666 (186)

Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses. [PDF]

Neurology, 2023
Martakis K, Claassen J, Gascon-Bayari J, Goldschagg N, Hahn A, Hassan A, Hennig A, Jones S, Kay R, Lau H, Perlman S, Sharma R, Schneider S, Bremova-Ertl T.   +13 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

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

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

Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report. [PDF]

Front Pediatr, 2023
Chen Q, Lu F.
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

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

BMJ Case Rep, 2023
Banyal P, Arora M, Saini AG.
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

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

core   +1 more source