Results 161 to 170 of about 15,504 (206)
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Archives of Ophthalmology, 1971
THE PURPOSE of this paper is to present, for the first time, the ocular pathological manifestations of infantile or type 1 GM1-gangliosidosis (also known as generalized gangliosidosis). In addition, the clinical aspects of this disease will be discussed, since it has important ocular manifestations, but has received only one brief mention in the ...
J M, Emery +3 more
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THE PURPOSE of this paper is to present, for the first time, the ocular pathological manifestations of infantile or type 1 GM1-gangliosidosis (also known as generalized gangliosidosis). In addition, the clinical aspects of this disease will be discussed, since it has important ocular manifestations, but has received only one brief mention in the ...
J M, Emery +3 more
openaire +2 more sources
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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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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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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Hyperphosphatasemia in GM1 gangliosidosis
The Journal of Pediatrics, 1992Not available.
Denis, Robert +5 more
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Journal of Inherited Metabolic Disease, 2023
GM1 gangliosidosis is a rare lysosomal storage disorder associated with β‐galactosidase enzyme deficiency. There are three types of GM1 gangliosidosis based on age of symptom onset, which correlate with disease severity.
Domitille Laur +9 more
semanticscholar +1 more source
GM1 gangliosidosis is a rare lysosomal storage disorder associated with β‐galactosidase enzyme deficiency. There are three types of GM1 gangliosidosis based on age of symptom onset, which correlate with disease severity.
Domitille Laur +9 more
semanticscholar +1 more source
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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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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AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial
medRxivBackground GM1 gangliosidosis, caused by biallelic variants in GLB1, results from deficiency of lysosomal {beta}-galactosidase, the enzyme primarily responsible for degradation of GM1 ganglioside.
Connor J. Lewis +31 more
semanticscholar +1 more source