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Human Pathology, 1975
The gangliosidoses are hereditary diseases with a recessive mode of inheritance and are caused by a genetically induced enzymatic block, which results in the accumulation of gangliosides in various tissues of the body, mainly in the brain. Although Tay-Sachs disease, the most commonly occurring of the gangliosidoses, has been known for nearly 100 years,
B W, Volk, M, Adachi, L, Schneck
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The gangliosidoses are hereditary diseases with a recessive mode of inheritance and are caused by a genetically induced enzymatic block, which results in the accumulation of gangliosides in various tissues of the body, mainly in the brain. Although Tay-Sachs disease, the most commonly occurring of the gangliosidoses, has been known for nearly 100 years,
B W, Volk, M, Adachi, L, Schneck
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GM2 gangliosidoses: Consideration of the genetic defects
Lancet, The, 1971A D Bain
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2003
The gangliosidoses comprise a family of lysosomal storage diseases characterized by the accumulation of complex glycosphingolipids in the nervous system and other tissues, secondary to the deficient activity of lysosomal hydrolases or their associated activator proteins. GM1 and GM2 gangliosidosis are associated with deficiency of β-galactosidase and β-
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The gangliosidoses comprise a family of lysosomal storage diseases characterized by the accumulation of complex glycosphingolipids in the nervous system and other tissues, secondary to the deficient activity of lysosomal hydrolases or their associated activator proteins. GM1 and GM2 gangliosidosis are associated with deficiency of β-galactosidase and β-
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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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Biochemistry of Gangliosidoses
1985Lipid storage disorders comprise a rather heterogeneous group of progredient and often fatal diseases which mainly disable the nervous system. The biochemical analysis of these diseases led to the discovery of several glycosphingolipids and triggered the investigation of their metabolism.
K. Sandhoff, E. Conzelmann
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The Gangliosidoses: Comparative Features and Research Applications
Veterinary Pathology, 1979Ganglioside storage diseases are inherited defects of lysosomal hydrolases that result in intralysosomal accumulation of gangliosides and other complex metabolites. Gangliosidoses occur in man, cats, cattle, dogs and swine. In all species, these diseases are characterized clinically by relentlessly progressive neurological deterioration.
H J, Baker +4 more
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