Results 161 to 170 of about 9,234 (203)

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
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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
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The use of tears for diagnosis of GM1 gangliosidosis

Clinica Chimica Acta, 1977
The properties of beta-galactosidase of tears were investigated and the standard assay system was accomplished. The pH optimum was 4.2. The enzyme had a KM of 8.3 X 10(-4) M. The activity was stimulated by chloride ions and slightly stabilized by bovine serum albumin. The activities of normal individuals were 205 +/- 80 (S.D.) nmol/h/ml.
A, Tsuboyama, F, Miki, M, Yoshida, Y, Ogura, T, Miyatake   +4 more
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Dysmyelinogenesis in animal model of GM1 gangliosidosis

Pediatric Neurology, 1992
Magnetic resonance imaging (MRI), pathologic examinations, and biochemical analyses were performed on 2 different canine mutants with GM1 gangliosidosis (i.e., English Springer Spaniel and Portuguese Water Dog) and on age- and sex-matched controls. Serial MRI studies were also performed on a child with infantile-onset GM1 gangliosidosis.
E M, Kaye, J, Alroy, S S, Raghavan, G A, Schwarting, L S, Adelman, V, Runge, D, Gelblum, J G, Thalhammer, G, Zuniga   +8 more
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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
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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
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The Clinical and Molecular Spectrum of GM1 Gangliosidosis

The Journal of Pediatrics, 2019
To evaluate the clinical presentation of patients with GM1 gangliosidosis and to determine whether specific clinical or biochemical signs could lead to a prompt diagnosis.We retrospectively analyzed clinical, biochemical, and genetic data of 22 patients with GM1 gangliosidosis from 5 metabolic centers in Germany and Austria.Eight patients were ...
Laila, Arash-Kaps, Katalin, Komlosi, Marlene, Seegräber, Stefan, Diederich, Eduard, Paschke, Yasmina, Amraoui, Skadi, Beblo, Andrea, Dieckmann, Martin, Smitka, Julia B, Hennermann   +9 more
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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
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Chemical chaperone therapy for GM1-gangliosidosis

Cellular and Molecular Life Sciences, 2008
We have proposed a chemical chaperone therapy for lysosomal diseases, based on a paradoxical phenomenon that an exogenous competitive inhibitor of low molecular weight stabilizes the target mutant molecule and restores its catalytic activity as a molecular chaperone intracellularly.
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GM1 gangliosidosis

Journal of the Neurological Sciences, 1974
G M, Taori, D K, Basu, S, Chandi, P T, Raman, J, Abraham, R, Leelavathy, C K, Job   +6 more
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