Results 111 to 120 of about 4,207 (192)

A propósito de un caso de gangliosidosis GM-2 tipo II: enfermedad de Sandhoff

Revista Médica Electrónica, 2015
Las gangliosidosis son un conjunto de enfermedades hereditarias de almacenamiento lisosómico, debidas a un acúmulo de gangliósidos, sobre todo en las neuronas.
Irelis González López, Enrique Marcos Sierra Benítez, Mairiannys Quianella León Pérez, Mayra Luz Leiva González, Samia Hernández Dreke, Yadiel González Fernández   +5 more
doaj  

GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and electroencephalography [PDF]

ObjectivesGangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits.
Ahmad Abadi, Farzad, Ebrahimi, Masoomah, Etemad, Korosh, Hosseini Nezhad, Zahra, Karimzadeh, Parvaneh   +4 more
core   +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

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

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

Erratum: Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis. [PDF]

Mol Ther Methods Clin Dev, 2022
Tsunogai T, Ohashi T, Shimada Y, Higuchi T, Kimura A, Watabe AM, Kato F, Ida H, Kobayashi H.   +8 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

Commentary: GM1-Gangliosidosis Type III Associated Parkinsonism. [PDF]

Mov Disord Clin Pract, 2021
Kurian MA, Kaiyrzhanov R, Allahyarova P, Guliyeva U, Gulieva S, Salayev K, Mursalova A, Ferla MP, Houlden H, Cardoso F.   +9 more
europepmc   +1 more source

Regulation of lysosomal ion homeostasis by channels and transporters [PDF]

, 2016

core   +1 more source