Results 161 to 170 of about 4,196 (206)

GM1 Gangliosidosis

1989
GM1 gangliosidosis is an autosomal recessive disorder of GM1 metabolism, resulting in variable neural and visceral accumulation. Two forms can be distinguished: generalized or type 1 GM1 gangliosidosis and cerebral or type 2 GM1 gangliosidosis.
Marjo S. van der Knaap, Jacob Valk
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Genetic heterogeneity in GM1-gangliosidosis

Nature, 1975
GM1-GANGLIOSIDOSIS is an inherited lysosomal storage disease which is due to a deficiency of the acid hydrolase GM1-β-galactosidase1. During the past few years several clinical variants have been described2–6 that differ in time of onset of symptoms, involvement of visceral organs or skeletal tissue and in the degree of neuronal and mental ...
H. GALJAARD, A. HOOGEVEEN, W. KEIJZER, H. A. DE WIT-VERBEEK, A. J. J. REUSER, MAE WAN HO, D. ROBINSON   +6 more
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Neurophysiological studies in GM1, gangliosidosis

The Italian Journal of Neurological Sciences, 1982
Neurophysiological studies (EEG, ERG, VEP) have been carried out on 8 children with proven GM1 gangliosidosis (3 of Type I and 5 of Type II). All the EEGs were abnormal showing an increasing amount of irregular slow activity as the disease progressed.
A, Harden, Z, Martinovic, G, Pampiglione
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Three cases of GM1-gangliosidosis

Clinica Chimica Acta, 1976
A biochemical analysis was carried out on three cases of GM1-gangliosidosis which showed different clinical manifestations. These cases were classified in a previous study as Type 1, Type 2 (2B) and Type 2 (2A), an intermediate type between classical Type 1 and Type 2 (2B), by the determination of the chromatographic profile of the liver beta ...
T, Kudoh, T, Orii, T, Nakao, T, Sakagami
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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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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,
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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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