Results 81 to 90 of about 2,653 (156)

Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis. [PDF]

Am J Med Genet A, 2023
Luckett A, Yousef M, Tifft C, Jenkins K, Smith A, Munoz A, Quimby R, Porter FD, Dang Do AN.   +8 more
europepmc   +1 more source

GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat. [PDF]

Am J Med Genet A, 2023
Bingaman A, Waggoner C, Andrews SM, Pangonis D, Trad M, Giugliani R, Giorgino R, Jarnes J, Vakili R, Ballard V, Peay HL.   +10 more
europepmc   +1 more source

Abnormal DaTscan in GM1-Gangliosidosis Type III Manifesting with Dystonia-Parkinsonism. [PDF]

Mov Disord Clin Pract, 2022
Koya Kutty S, Magrinelli F, Milner AV, Bhatia KP.   +3 more
europepmc   +1 more source

Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients. [PDF]

Mol Genet Metab, 2023
Nicoli ER, Huebecker M, Han ST, Garcia K, Munasinghe J, Lizak M, Latour Y, Yoon R, Glase B, Tyrlik M, Peiravi M, Springer D, Baker EH, Priestman D, Sidhu R, Kell P, Jiang X, Kolstad J, Kuhn AL, Shazeeb MS, Acosta MT, Proia RL, Platt FM, Tifft CJ.   +23 more
europepmc   +1 more source

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis. [PDF]

Mol Genet Metab
Kell P, Mishra S, D'Souza P, Tifft CJ, Dietzen DJ, Lasio LD, Carson JP, Hong X, Schiffmann R, Ledesma MD, Tayebi N, Dickson PI, Porter FD, Ory DS, Jiang X.   +14 more
europepmc   +1 more source

Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis. [PDF]

Mol Genet Metab, 2023
Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, Liao HC, Kubaski F, Giugliani R, Fuller M, Gelb MH.   +9 more
europepmc   +1 more source

GM1-Gangliosidosis Type III Associated Parkinsonism. [PDF]

Mov Disord Clin Pract, 2021
Kaiyrzhanov R, Guliyeva U, Gulieva S, Salayev K, Mursalova A, Allahyarova P, Ferla MP, Houlden H.   +7 more
europepmc   +1 more source

AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial. [PDF]

N Engl J Med
Lewis CJ, D'Souza P, Johnston JM, Acosta MT, Farmer C, Baker EH, Crowell A, Mojica Y, Ashraf S, Joseph L, Vézina G, Quezado Z, Yousef MH, Vardar Z, Shazeeb MS, Corti M, Blackwood M, Coleman K, Batista R, Thurm A, De Boever E, Gahl WA, Byrne BJ, Flotte TR, Jiang X, Gross AL, Keeler AM, Gray-Edwards H, Martin DR, Sena-Esteves M, Tifft CJ.   +30 more
europepmc   +1 more source

Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient. [PDF]

CRISPR J, 2023
Leclerc D, Goujon L, Jaillard S, Nouyou B, Cluzeau L, Damaj L, Dubourg C, Etcheverry A, Levade T, Froissart R, Dréano S, Guillory X, Eriksson LA, Launay E, Mouriaux F, Belaud-Rotureau MA, Odent S, Gilot D.   +17 more
europepmc   +1 more source

Novel Galactosidase-Beta-1 Variant in Infantile GM1 Gangliosidosis: A Case Report. [PDF]

Cureus
Srivastava P, Kumar A, Jain SD, Kumar R, Swaroop S, Sarangi T.   +5 more
europepmc   +1 more source