Results 241 to 250 of about 626,384 (268)

A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease. [PDF]

open access: yesFront Genet, 2019
Li P   +6 more
europepmc   +1 more source

SEPARATION OF ENZYME SOLUTION OF SOUR CHERRY (PRUNUS CERASUS L.) AND IDENTIFICATION OF β-GALACTOSIDASE

Acta Horticulturae, 2005
Different sour cherry cultivars (cv. 'Erdi botermo', 'Kantorjanosi' and 'Pandy 279') were harvested than stored for 30 days at 4-6°C, 89-90% RH. The absorbance pattern of juice was different between fresh and stored fruits, especially in case of cv. 'Kantorjanosi'. No remarkable differences was found in cv. 'Erdi botermo' fresh and stored.
E. Kovács   +2 more
openaire   +1 more source

Optimised N-acetyl-d-lactosamine synthesis using Thermus thermophilus β-galactosidase in bio-solvents

Tetrahedron, 2013
Ministerio de Ciencia e Innovacion; UCM/ Santander; Universidad Nacional de Costa ...
Sandoval, Manuel   +4 more
openaire   +2 more sources

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase

Human Mutation, 2009
Alterations in GLB1, the gene coding for acid beta-D-galactosidase (beta-Gal), can result in GM1 gangliosidosis (GM1), a neurodegenerative disorder, or in Morquio B disease (MBD), a phenotype with dysostosis multiplex and normal central nervous system (CNS) function.
Hofer, Doris   +13 more
openaire   +3 more sources

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