Results 111 to 120 of about 9,234 (203)

GM1-GangliosidosisのHeterogeneityに関する研究

The activity of GM1-β-galactosidase in leukocytes and in lymphoblastoid cell lines transformed by Epstein-Barr virus, from five patients with reduced β-galactosidase activity and their parents, was assayed with GM1-ganglioside tritiated in the terminal ...
菊地, 浩一
core  

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  

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

Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report. [PDF]

Front Pediatr
Zhong G, Wang K, Liao K, Xie Q, Chen J, Yu R.   +5 more
europepmc   +1 more source

Development of Small-Molecule Allosteric Modulators of Beta-Galactosidase (β-Gal) for the Treatment of GM1 Gangliosidosis and Morquio B. [PDF]

Int J Mol Sci
Pérez-Carmona N, Cubero E, Ruano A, Pons-Vizcarra M, Delgado A, Trapero A, Reves M, Rodríguez-Pascau L, Taylor J, Martinell M, Barril X, García-Collazo AM.   +11 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

Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Roy S, Arora C, Holla VV, Prasad S, Phulpagar P, Kamble N, Muthusamy B, Saini J, Yadav R, Pal PK.   +9 more
europepmc   +1 more source

Impact of Sinbaglustat on Neurons of the Medial Nucleus of the Trapezoid Body in a Murine Model of Human G_M1-Gangliosidosis. [PDF]

J Clin Med
Jubran L, Wannemacher R, Baumgärtner W, Felmy F, Steiner MA, Leitzen E, Kladisios N.   +6 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

Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study. [PDF]

Orphanet J Rare Dis
Rodriguez MB, Pulikottil-Jacob R, Heuer K, Perez NG, Waggoner C, Jussila D, Gwaltney C, Krupnick R, Ng-Mak D.   +8 more
europepmc   +1 more source