Results 91 to 100 of about 9,234 (203)

[GM1-gangliosidosis knockout mouse].

No to hattatsu = Brain and development, 1998
We generated a beta-galactosidosis mouse by gene targeting in an embryonic stem cell. Clinical, pathological, and biochemical analyses revealed that this mouse is a useful animal model to study the pathogenesis and therapy of human GM1-gangliosidosis.
openaire   +2 more sources

Early Infantile Gangliosidosis GM1, a Rare Clinical Entity

, 2018
Gangliosidosis is a rare lysosomal storage disease. There have been about 200 cases reported, to date. The Overall prevalence at birth of GM1 Gangliosidosis is estimated to be 1 in 100,000 to 300,000.
Khalid, Mazhar, Bushra, Sana, Kakar, Saliha, Ur Rehman Khan, Mobin, Samsoor Zarak, Muhammad, Khan Tareen, Helmand   +5 more
core  

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis

, 2007
Diagnosis of GM1 gangliosidosis (OMIM 230500) is usually based on the presence of physical signs of storage such as coarse facial features, corneal clouding, cherry red macula, hepatosplenomegaly and skeletal dysostosis.
Brett H. Graham, Graham, Brett H., Nicola Brunetti‐Pierri, Luetchke, Rebecca, Rebecca Luetchke, Asad Mian, Pierri, Nicola Brunetti-, Mian, Asad   +7 more
core   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

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.
Etemad, Korosh, Ahmad Abadi, Farzad, Karimzadeh, Parvaneh, Ebrahimi, Masoomah, Hosseini Nezhad, Zahra   +4 more
core  

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

, 2010
GM1 gangliosidosis manifests with progressive psychomotor deterioration and dysostosis of infantile, juvenile, or adult onset, caused by alterations in the structural gene coding for lysosomal acid β-galactosidase (GLB1).
Michelakakis, H., Roubergue, A., Plecko, B., Paul, K., Vellodi, A., Poorthuis, B. J., Hofer, D., Beck, M., Fantur, K., Paschke, E.   +9 more
core   +1 more source

GM1 Gangliosidosis, Late Infantile Onset Dystonia, and T2 Hypointensity in the Globus Pallidus and Substantia Nigra [PDF]

, 2013
BACKGROUND: GM1 gangliosidosis is a rare disease due to mutations in the GLB1 gene and autosomal recessive deficiency of b-galactosidase. There is considerable overlap between classical phenotypes and clinical and imaging findings, which are often ...
Conceição, C, Vieira, JP, Scortenschi, E   +2 more
core   +1 more source

Gm1-gangliosidosis In Nigerian Children: Case Series Report: Gm1-gangliosidosis In Nigerian Children: Case Series Report

Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is caused by the deficiency of the acid beta-galactosidase (GLB11) resulting in
Abdullahi Mahadi, Sakinatu, Abdullahi M, Alfa, Abdullahi, Musa, Sani Malam, Mado   +3 more
core  

Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing

Stem Cell Research
GM1 gangliosidosis (GM1) is a rare autosomal recessive neurogenerative lysosomal storage disease characterized by deficiency of beta-galactosidase (β-gal) and intralysosomal accumulation of GM1 ganglioside and other glycoconjugates.
Allisandra K. Rha, Chloe L. Christensen, Shih-Hsin Kan, Jerry F. Harb, Perla Andrade-Heckman, Raymond Y. Wang   +5 more
doaj   +1 more source

Approaches and Considerations Towards a Safe and Effective Adeno-Associated Virus Mediated Therapeutic Intervention for GM1-Gangliosidosis: A Dissertation

, 2015
This dissertation includes 6 videos that are referenced in Chapter II. GM1 gangliosidosis is a lysosomal storage disorder caused by a deficiency in the catabolizing enzyme β-galactosidase (βgal). This leads to accumulation of GM1-ganglioside (GM1) in the
Weismann, Cara M.
core   +1 more source