Results 291 to 300 of about 286,880 (314)

Alpha Galactosidase A Activity in Parkinson Disease (S45.005)

Neurology, 2018
Roy Alcalay, Oren Levy, Cheryl Waters, Stanley Fahn, Blair Ford, Sheng-Han Kuo, Nora Vanegas-Arroyave, Hiral Shah, Christopher Liong, Sushma Narayan, Michael Pauciulo, William Nichols, Ziv Gan-Or, Guy Rouleau, Wendy Chung, Pavlina Wolf, Petra Oliva, Joan Keutzer, Karen Marder, Xiaokui Zhang   +19 more
openaire   +1 more source

[Mutation of the alpha-galactosidase A gene in two unusual variations of Fabray's disease].

Voprosy meditsinskoi khimii, 1999
The mutation analysis of alpha-galactosidase A gene was carried out in two families with Fabry disease described by us earlier. In the family P. a new point mutation E341K (a G to A transition at position 10,999 of the gene) was identified. The mutation causes a Glu341Lys substitution in alpha-galactosidase A molecule.
Beier, E.M., Kopishinskaia, S.V., Ploos van Amstel, J.K., Tsvetkova, I.V.   +3 more
openaire   +2 more sources

The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)--investigation of symptomatic and presymptomatic patients.

The Quarterly journal of medicine, 1990
S. Morgan, P. Rudge, Shelagh M. J. Smith, A. Bronstein, B. Kendall, E. Holly, E. Young, M. Crawfurd, R. Bannister   +8 more
semanticscholar   +1 more source

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.

Molecular Genetics and Metabolism, 2003
R. Froissart, N. Guffon, M. Vanier, R. Desnick, I. Maire   +4 more
semanticscholar   +1 more source

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.

Human Molecular Genetics, 1994
C. M. Eng, D. J. Niehaus, Annette L. Enriquez, Tania S. Burgert, Mark Ludman, RobertJ. Desnick   +5 more
semanticscholar   +1 more source

Production of a Thermoresistant Alpha-galactosidase fromThermussp. Strain T2 for Food Processing

Food Biotechnology, 2007
Jose Luis Garcia, Roberto Fernandez-Lafuente, Rodrigo Torres   +2 more
exaly  

Fabry Disease (α-Galactosidase A Deficiency): Renal Involvement and Enzyme Replacement Therapy

2001
R J, Desnick, M P, Wasserstein, M, Banikazemi   +2 more
openaire   +2 more sources

Penicillium sp. 23 alpha-galactosidase: purification and substrate specificity

Carbohydrate Polymers, 2001
Vladislav A Malanchuk
exaly  

Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

Biochemical and Biophysical Research Communications - BBRC, 1999
Dominique P. Germain, L. Poenaru
semanticscholar   +1 more source

5401650 Cloning and expression of biologically active alpha-galactosidase A

Biotechnology Advances, 1995
openaire   +1 more source