Results 171 to 180 of about 15,504 (206)

Thymic alterations in feline GM1 gangliosidosis

Veterinary Immunology and Immunopathology, 1998
GM1 gangliosidosis is an inherited metabolic disease characterized by progressive neurological deterioration with premature death seen in children and numerous animals, including cats. We have observed that thymuses from affected cats greater than seven months of age (GM1 mutant cats) show marked thymic reduction compared to age-matched normal cats ...
N R, Cox, S J, Ewald, N E, Morrison, A S, Gentry, M, Schuler, H J, Baker   +5 more
openaire   +2 more sources

GM1 - gangliosidosis, type 1 in the practice of a clinical laboratory diagnostics doctor

Archives of Pediatrics and Pediatric Surgery
GM1- gangliosidosis is a rare hereditary disease from the group of lysosomal storage diseases, caused by a deficiency of the enzyme beta-galactosidase and leading to an abnormal accumulation of metabolic byproducts. GM1 - gangliosidosis is accompanied by
T. Konyukhova, A. I. Mandzhieva, E. Trukhina, L. B. Guruleva   +3 more
semanticscholar   +1 more source

Neuroimaging Spectrum of GM1 Gangliosidosis with Description of Novel Imaging Signs

American Journal of Neuroradiology
Graphical Abstract Infantile and late infantile GM1 gangliosidosis typically presents with a predominant leukodystrophy pattern on MRI, while juvenile- and adult-onset forms more often show dorsal putaminal T2 hyperintensity and globus pallidus ...
Fiorenza Coppola, Sandeep Prasad, G. Morana, Matthew T. Whitehead, Reem Zakzouk, Amirreza Manteghinejad, Felipe Welter Langer, Juliano Adams Perez, Felice D’Arco, Ulrike Löbel, Pritika Gaur, Patricia Varga, Julien Baruteau, Kshitij Mankad, S. Sudhakar, Asthik Biswas   +15 more
semanticscholar   +1 more source

Computed tomography of GM1 gangliosidosis

The Journal of Pediatrics, 1984
REPORTS DESCRIBING THE VALUE of computed tomography in the identification of white matter abnormalities in the leukodystrophies and demyelinating diseases of children first appeared in 1977.1 Since then higher resolution scanners have resulted in CT descriptions of Canavan disease, 2 Alexander disease, 3 metachromatic leukodystrophy,4. 5 Krabbe disease,
openaire   +2 more sources

Ocular pathology of bovine GM1 gangliosidosis

Acta Neuropathologica, 1978
Late-onset of disturbed vision is a clinical feature of bovine GM1 gangliosidosis. Studies on eight affected calves showed that ocular lesions were confined to the retinae and optic nerves. Myriad tiny white spots were visible by ophthalmic examination of the fundus.
B J, Sheahan, W J, Donnelly, T D, Grimes
openaire   +2 more sources

Ovine GM1 gangliosidosis

Small Ruminant Research, 1991
Abstract Ovine GM1 gangliosidosis is a newly described neuronal lysosomal storage disease first observed in Suffolk sheep. Affected sheep are clinically normal at birth and exhibit ataxia at 4 to 6 months of age which rapidly progresses to prostration.
D J, Prieur, A J, Ahern-Rindell, R D, Murnane   +2 more
openaire   +2 more sources

Studies on GM1-gangliosidosis, type II

Acta Neuropathologica, 1974
Post-mortem studies on a 6-year old boy with GM1-gangliosidosis, Type II revealed no evidence of accumulation of residual bodies nor of gangliosides or glycoproteins in liver and spleen. In brain tissue the ganglioside GM1 accounted for 70% of the ganglioside fraction and ganglioside-NANA was increased 3.6 fold over controls.
V, Patel, H H, Goebel, I, Watanabe, W, Zeman   +3 more
openaire   +2 more sources

Pathologic Findings in Fetal GM1 Gangliosidosis

Archives of Neurology, 1986
A 24-week fetus with GM1 gangliosidosis (type 1) was studied using biochemical and histopathologic methods. Foam cells in viscera and placenta demonstrated widespread accumulation of a lipidlike material. By microscopy, central nervous system storage appeared confined to the retina and dorsal root ganglia, but the brain ganglioside content was ...
F R, Bieber, G, Mortimer, E H, Kolodny, S G, Driscoll   +3 more
openaire   +2 more sources

Creation of an in vitro model of GM1 gangliosidosis by CRISPR/Cas9 knocking‐out the GLB1 gene in SH‐SY5Y human neuronal cell line

Cell Biochemistry and Function
GM1 gangliosidosis is one type of hereditary error of metabolism that occurs due to the absence or reduction of β‐galactosidase enzyme content in the lysosome of cells, including neurons.
Kamran Hosseini, Jafar Fallahi, Hadi Aligholi, Zahra Heidari, Elham Nadimi, Fatemeh Safari, Mohsen Sisakht, Amir Atapour, S. Khajeh, Seyed Mohammad Bagher Tabei, V. Razban   +10 more
semanticscholar   +1 more source

Neuroimaging findings in infantile GM1 gangliosidosis

European Journal of Paediatric Neurology, 2006
GM1 gangliosidosis is an autosomal recessive glycosphingolipid storage disease caused by defects in the enzyme beta-galactosidase. Three clinical forms (infantile-, juvenile-, and adult-onset) of the disease are recognized. Patients with infantile GM1 gangliosidosis present at birth or shortly thereafter with somatic and bony changes, followed by ...
Ilknur, Erol, Füsun, Alehan, M Ali, Pourbagher, Oguz, Canan, S, Vefa Yildirim   +4 more
openaire   +2 more sources