Results 101 to 110 of about 15,504 (206)
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 +3 more
openaire +2 more sources
Journal of Nepal Medical Association, 2009 We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in all four limbs with hyper-refl exia.
Binod Khatiwada, A Pokharel
doaj +1 more source
MR Imaging Findings in 2 Cases of Late Infantile GM1 Gangliosidosis [PDF]
, 2009 n/
De Grandis, E. +4 more
core +2 more sources
Blood Smear as A Clue to The Diagnosis of GM1 - Gangliosidosis
Annals of Hematology & OncologyGM1 gangliosidosis is a rare hereditary disease from the group of lysosomal accumulation diseases, caused by deficiency of the enzyme Β-galactosidase and leading to abnormal accumulation of metabolic by-products.
Konyukhova Tv, Trukhina Ev
semanticscholar +1 more source
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 +6 more
doaj +1 more source
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II [PDF]
, 2018 Background: Beta‐galactosidase‐1 ( GLB 1) is a lysosomal hydrolase that is responsible for breaking down specific glycoconjugates, particularly GM 1 (monosialotetrahexosylganglioside).
Brunetti-Pierri +34 more
core +1 more source
Una propuesta de la biología de sistemas para el estudio de enfermedades raras [PDF]
, 2010 El grupo de Bases Moleculares de la Proliferación Celular de la Universidad de Málaga estudia patologías muy poco convencionales. Su poca incidencia en la población, menos de cinco casos por cada diez mil habitantes, las convierten hoy en un gran reto ...
Sanchez-Jimenez, Francisca Maria
core +1 more source
GM1‐gangliosidosis type I [PDF]
British Journal of Haematology, 2006 Jiri, Pavlu +2 more
openaire +2 more sources