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The Thai Journal of Veterinary Medicine, 2022
Two 3-month-old, male, domestic short hair, cats of the same litter were presented to the small animal teaching hospital with the clinical sign of head tremor for 2 weeks. Three months later, the clinical sign had worsened. Both kittens had loss of balance and showed intention tremor. Physical examination revealed hypertelorism, depressed bridge of the
Latticha Pluemhathaikij +8 more
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Two 3-month-old, male, domestic short hair, cats of the same litter were presented to the small animal teaching hospital with the clinical sign of head tremor for 2 weeks. Three months later, the clinical sign had worsened. Both kittens had loss of balance and showed intention tremor. Physical examination revealed hypertelorism, depressed bridge of the
Latticha Pluemhathaikij +8 more
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GM2 gangliosidoses: Consideration of the genetic defects
Lancet, The, 1971A D Bain
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, 1979 Gangliosidoses and the Fetal Retina
Ophthalmology, 1984Abnormal membranous cytoplasmic inclusions were found in the retinal ganglion cells of two fetuses with gangliosidosis. One was a documented case of incipient Tay-Sachs disease (Gm2) and the other a case of generalized gangliosidosis (Gm1). Both specimens were obtained iatrogenically in the 20th to 21st week of gestation after amniocentesis had ...
D G, Cogan +3 more
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Nomenclature of GM2–gangliosidoses
Clinical Genetics, 1980As a supplement to the recently proposed systematic nomenclature for the genotypes and phenotypes of GM2–gangliosidoses (O'Brien 1978b), it is suggested that guidelines be adopted for the use of eponyms and type designations in connection with this group of sphingolipidoses.
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[A case of GM1 gangliosidoses].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology, 2022This article describes a case which seek medical advice for 2 months due to retrogressive development, The discovery of the characteristic fundus of the macular cherry-red spot is a key clue for further genetic analysis, GLB compound heterozygous mutations is detected, and enzymology results show that the acid B-galactose glucoside enzyme significantly
L L, Liu, L, Li
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