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Testing sheep for GM2 gangliosidosis
Veterinary Record, 2014GM2 gangliosidosis (Tay-Sachs disease) in British Jacob sheep was reported in Veterinary Record by Wessels and colleagues ( VR , January 4, 2014, vol 174, pp 20-21). These authors described the clinical and pathological findings associated with this disabling disease, which is inherited as an autosomal recessive condition.
Lewis, Chris +9 more
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European Neurology, 1970
A patient with monosialoganglioside accumulation in the brain is described who shows a clinical onset of the disease at 1 year of age, no visceromegaly nor skeletal X-ray changes. There is no ganglioside accumulation in the liver. These observations permit a clear distinction from the generalized GM1 gangliosidosis and agree with the division in 2 ...
C, Hooft +3 more
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A patient with monosialoganglioside accumulation in the brain is described who shows a clinical onset of the disease at 1 year of age, no visceromegaly nor skeletal X-ray changes. There is no ganglioside accumulation in the liver. These observations permit a clear distinction from the generalized GM1 gangliosidosis and agree with the division in 2 ...
C, Hooft +3 more
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GM1 gangliosidosis in shiba dogs
Veterinary Record, 2000A six‐month‐old shiba dog with a one‐month history of progressive motor dysfunction showed clinical signs of a cerebellar disorder, including ataxia, dysmetria and intention tremor of the head. Histopathological and ultrastructural studies revealed distended neurons packed with membranous cytoplasmic bodies throughout the central nervous system.
O, Yamato +8 more
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Neurophysiological studies in GM1, gangliosidosis
The Italian Journal of Neurological Sciences, 1982Neurophysiological 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, 1976A 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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1989
GM2 gangliosidoses are inherited disorders involving sphingolipid storage. There are three major, biochemically distinct types: B, O, and AB. Type B is the classical Tay-Sachs disease (TSD) and type O is equivalent to Sandhoff’s disease (SD).
Jacob Valk, Marjo S. van der Knaap
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GM2 gangliosidoses are inherited disorders involving sphingolipid storage. There are three major, biochemically distinct types: B, O, and AB. Type B is the classical Tay-Sachs disease (TSD) and type O is equivalent to Sandhoff’s disease (SD).
Jacob Valk, Marjo S. van der Knaap
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Genetic heterogeneity in GM1-gangliosidosis
Nature, 1975GM1-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 +6 more
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1989
GM3 gangliosidosis is also called hematoside sphingolipodystrophy. Knowledge of clinical symptoms is based on the description of only one patient. Respiratory difficulties, generalized seizures, lethargy, feeding difficulties, gingival hypertrophy, macroglossia, a coarse facies, dry, thickened and hirsute skin, and broad hands and feet were all ...
Jacob Valk, Marjo S. van der Knaap
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GM3 gangliosidosis is also called hematoside sphingolipodystrophy. Knowledge of clinical symptoms is based on the description of only one patient. Respiratory difficulties, generalized seizures, lethargy, feeding difficulties, gingival hypertrophy, macroglossia, a coarse facies, dry, thickened and hirsute skin, and broad hands and feet were all ...
Jacob Valk, Marjo S. van der Knaap
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American Journal of Diseases of Children, 1965
Introduction IN 1959 Norman et al1described a patient with a specific form of amaurotic idiocy which they called "Tay-Sachs Disease With Visceral Involvement." In this patient the clinical and pathological picture resembled Tay-Sachs disease, plus accumulation of lipid-laden histiocytes in liver, spleen, thymus, and other organs.
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Introduction IN 1959 Norman et al1described a patient with a specific form of amaurotic idiocy which they called "Tay-Sachs Disease With Visceral Involvement." In this patient the clinical and pathological picture resembled Tay-Sachs disease, plus accumulation of lipid-laden histiocytes in liver, spleen, thymus, and other organs.
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GM2 gangliosidosis in a Japanese Spaniel
Acta Neuropathologica, 1985A storage disease in a 2-year-old Japanese Spaniel resembled a GM2 gangliosidosis previously identified in a now extinct line of German Shorthaired Pointers. Despite a later appearance of signs in the Japanese Spaniel, the distribution, staining, and ultrastructure of the stored material were similar in the two breeds.
J F, Cummings +4 more
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