Results 221 to 230 of about 118,748,616 (241)

"On-Site Family Screening" in Fabry Disease: An Innovative Model for Identifying At-Risk Relatives. [PDF]

J Clin Med
Baran E, Kök G, Onay H.
europepmc   +1 more source

Generation of two induced pluripotent stem cell lines from Fabry disease patients carrying GLA mutations. [PDF]

Stem Cell Res
Patra D, Cabrera DGT, Yang X, Walther P, Mukherjee S, Sampson J, Wu JC.   +6 more
europepmc   +1 more source

Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease

Clinical Biochemistry, 2012
OBJECTIVES: Mutation analysis of the alpha-galactosidase A (GLA) gene is a valuable tool for the diagnosis of affected families. In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD).
Antonino Tuttolomondo, Antonio Pinto, Giovanni Duro   +2 more
exaly   +2 more sources

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Spatial regulation of alpha-galactosidase activity and its influence on raffinose family oligosaccharides during seed maturation and germination in Cicer arietinum

Plant Signaling and Behavior, 2020
Abhinandan Kumar, Rex Arunraj, Logan Skori   +2 more
exaly  

Affinity purification of human alpha galactosidase utilizing a novel small molecule biomimetic of alpha-D-galactose

Protein Expression and Purification, 2021
Brian Dwyer, Muthuraman Meiyappan, Bohong Zhang   +2 more
exaly  

Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion.

Journal of Cell Biology, 1992
Robert J. Desnick, Y A Ioannou
exaly  

Optimization of cold-adapted alpha-galactosidase expression in

Protein Expression and Purification, 2016
V A Rasskazov
exaly  

Production of a Thermoresistant Alpha-galactosidase from Thermus sp. Strain T2 for Food Processing

Food Biotechnology, 2007
Cesar Mateo, Manuel Fuentes, José Luis García   +2 more
exaly