Results 101 to 110 of about 9,234 (203)

Minimally invasive routes of AAV administration to treat GM1 gangliosidosis [PDF]

, 2020
GM1 gangliosidosis is a lysosomal storage disease caused by a deficiency of lysosomal β-galactosidase (βgal), which results in the accumulation of GM1 ganglioside and fatal neurodegeneration.
Gross, Amanda
core  

GM1 gangliosidosis human cell model and use thereof

, 2014
본 발명은 GM1 강글리오시드증(GM1 gangliosidosis)의 인간 세포 모델, 이의 유도-만능 줄기세포(induced pluripotent stem cells; iPSCs) 및 iPSCs 유래 신경 전구세포를 기반으로 한 모델 세포 제조 방법, 및 상기 GM1 모델 세포를 GM1 강글리오시드증의 치료제 개발에 이용하는 용도에 관한 것으로, 본 발명의 GM1 환자의 섬유아세포로부터 유래한 iPSCs는 GM1 환자에서 나타나는 특징을 재현하는 ...
곽재은, 전혜진, 손미영, 조이숙, 설빛나   +4 more
core  

Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies

Diagnostics
Gangliosidosis (ORPHA: 79255) is an autosomal recessive lysosomal storage disease (LSD) with a variable phenotype and an incidence of 1:200000 live births.
Dana Elena Mîndru, Elena Țarcă, Elena Emanuela Braha, Alexandrina-Ștefania Curpăn, Solange Tamara Roșu, Dana-Teodora Anton-Păduraru, Heidrun Adumitrăchioaiei, Valentin Bernic, Ioana-Alexandra Pădureț, Alina Costina Luca   +9 more
doaj   +1 more source

GM1 gangliosidosis [PDF]

, 2020
openaire   +3 more sources

Type-3 (chronic) Gm1 Gangliosidosis Presenting As Infanto-choreo-athetotic Dementia, Without Epilepsy, in 3 Sisters

, 1988
Three sisters (ages 27, 24, and 17 years) presented with slowly progressing dystonic dementia and spastic tetraparesis with infantile onset. CSF, bone marrow, and conjunctival cells showed storage vacuoles. Biochemical analysis revealed increased urinary
Van Hoof, F., D'Amore, I., Guazzi, GC., Vanhoof, F., Alessandrini, C., Federico, A., Guazzi, G. C., Damore, I., Palmeri, S., Fruschelli, C.   +9 more
core   +1 more source

Irregular extensive Mongolian blue spots as a clue of GM1 gangliosidosis type 1

, 2016
This case report highlights how extensive irregular Mongolian blue spots may represent a clue for the diagnosis of GM1 gangliosidosis type ...
Guerriero, Cristina, Giuseppe Zampino, Ilaria Lazzareschi, Cristina Guerriero, Francesco Ricci, Ricci, Francesco, Lazzareschi, Ilaria, Donato Rigante, Daniela Antuzzi, Piero Valentini, Giulia Bersani, Bersani, Giulia, Zampino, Giuseppe, Rigante, Donato, Antuzzi, Daniela, Valentini, Piero   +15 more
core   +1 more source

Four novel mutations in the beta-galactosidase gene identified in infantile type of GM1 gangliosidosis

, 2012
Objectives: The aim of this study is to find out mutations of Turkish GM1 gangliosidosis patients and to make genotype-phenotype ...
Sonmez, Mujgan, CELTIKCI, BAŞAK, ÖZKARA, HATİCE ASUMAN, AYDIN, Halil Ibrahim, Sivri, Serap, TOPÇU, MERAL   +5 more
core   +1 more source

Transient high-level expression of ß-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA

Brazilian Journal of Medical and Biological Research, 2008
GM1 gangliosidosis is an autosomal recessive disorder caused by the deficiency of lysosomal acid hydrolase ß-galactosidase (ß-Gal). It is one of the most frequent lysosomal storage disorders in Brazil, with an estimated frequency of 1:17,000.
R.C. Balestrin, G. Baldo, M.B. Vieira, R. Sano, J.C. Coelho, R. Giugliani, U. Matte   +6 more
doaj  

Gangliosidosis

, 1986
: Cholinergic processes were measured in motor cortex, hippocampus, and striatum of cats in the terminal stages of GM1 gangliosidosis and compared to those of control cats.
Donald J. Connor, Jope, Richard S, Henry J. Baker, Baker, Henry J, Richard S. Jope, Connor, Donald J   +5 more
core   +1 more source

GM1‐gangliosidosis type I [PDF]

British Journal of Haematology, 2006
Jiri, Pavlu, Marie, Jackson, Nicki, Panoskaltsis   +2 more
openaire   +2 more sources