Results 71 to 80 of about 2,653 (156)

White matter changes in GM1 gangliosidosis

Indian Pediatrics, 2015
GM1 gangliosidosis is a disorder due to GLB1 gene mutation.A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging.Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing.We highlight the white matter changes in late infantile GM1 gangliosidosis.
Moni, Tuteja, Abdul Mueed, Bidchol, Katta Mohan, Girisha, Shubha, Phadke   +3 more
openaire   +2 more sources

Population analysis of the GLB1 gene in South Brazil

Genetics and Molecular Biology, 2011
Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country ...
Cléia Baiotto, Fernanda Sperb, Ursula Matte, Cláudia Dornelles da Silva, Renata Sano, Janice Carneiro Coelho, Roberto Giugliani   +6 more
doaj   +1 more source

[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

ePoster

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

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

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

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  

GM1‐gangliosidosis type I [PDF]

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

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
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