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tay-sachs disease/albumina
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Bovine serum albumin as a cause of misdiagnosis in Tay-Sachs disease.
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Hexosaminidase contamination in bovine serum albumin: a potential problem in screening for gene carriers of Tay-Sachs disease.
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A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases.
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The GM2-gangliosidoses are neurological diseases causing premature death, thus developing effective treatment protocols is urgent. GM2-gangliosidoses result from deficiency of a lysosomal enzyme β-hexosaminidase (Hex) and subsequent accumulation of GM2 gangliosides. Genetic changes in HEXA, encoding
Ganglioside GM2 N-acetyl-beta-D-galactosaminidase and asialo GM2 (GA2) N-acetyl-beta-D-galactosaminidase; studies in human skin fibroblasts.
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Ganglioside GM2 and its asialo-derivative, GA2 were radiolabeled in their N-acetyl-D-galactosaminyl moieties by oxidation with galactose oxidase and reduction with tritiated sodium borohydride. Specific activities of 6 X 10(4) dpm/nmol (GM2) and 1.8 X 10(6) dpm/nmol (GA2) were achieved. About 98% of
Investigation of shell disease in map turtles (Graptemys spp.).
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Nineteen map turtles (Graptemys spp.) maintained under natural conditions were investigated because of chronic shell abnormalities. Animals were evaluated using a novel shell scoring system that divided the 54 scutes into six regions, with each region scored for lesion extent and severity, and
Complementation of genetic disease: a velocity sedimentation procedure for the enrichment of heterokaryons.
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Methodology is described to enrich for heterokaryons after mammalian cell fusion. A heterogeneous cell mixture can be separated on a Sta-Put apparatus into fractions of uniform size cells by sedimentation through a 1% bovine serum albumin-5% Ficoll gradient. Unfused RAG and LM/TK- cells, differing
Congenital ocular motor apraxia associated with idiopathic generalized epilepsy in monozygotic twins.
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Identical female twins (age 11 years) with congenital ocular motor apraxia and generalized idiopathic epilepsy are reported. Their presenting symptoms were a long history of abnormal head and eye movements. One twin developed partial sensory seizures. The patients underwent 16-channel EEG,
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