Results 251 to 260 of about 78,667 (269)

ALPHA-GALACTOSIDASE A DEFICIENCY AMONG TURKISH MALE HEMODIALYSIS PATIENTS

2019
WOS ...
Ucar, S. Kalkan, Sozmen, E. Yildirim, Duman, S., Babci, A., Coker, M.   +4 more
openaire   +2 more sources

[Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations].

Journal de la Societe de biologie, 2002
Fabry disease (FD, OMIM 301500) is an X-linked inherited disorder of metabolism due to mutations in the gene encoding alpha-galactosidase A, a lysosomal enzyme. The enzymatic defect leads to the accumulation of neutral glycosphingolipids throughout the body, particularly within endothelial cells.
openaire   +1 more source

Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.

Ideggyogyaszati szemle, 2012
AIM was to detect the mutations of alpha-galactosidase A gene in two Hungarian Fabry patients.Mutation analysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns of the alpha-galactosidase A gene.Case 1. (19 y.
Aranka, László, László, Török, Sarolta, Raffai, Eva, Török, Eva, Sallay, Emoke, Endreffy, László, Morvai, J K Ploos, van Amstel   +7 more
openaire   +1 more source

[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].

Journal de la Societe de biologie, 2002
Fabry disease (FD, OMIM 301500) is an X-linked inherited disorder of metabolism due to mutations in the gene encoding alpha-galactosidase A, a lysosomal enzyme. The enzymatic defect leads to the accumulation of neutral glycosphingolipids throughout the body, particularly within endothelial cells.
openaire   +2 more sources

Alpha-galactosidase a from human placenta

Biochimica et Biophysica Acta (BBA) - Enzymology, 1977
Jary S. Mayes, Ernest Beutler
openaire   +1 more source

Structural and Mechanistic Studies of alpha-galactosidase A and Pharmacological Chaperones

2010
Human α-galactosidase (α-GAL; EC 3.2.1.22) is a lysosomal enzyme that hydrolyzes of terminal alpha-linked galactosyl residue of glycosphingolipids. Deficiencies in α-GAL leads to Fabry disease, which is characterized by the build-up of globotriaosylceramide and other neutral substrates in cells, ultimately leading to a multi-systemic organ failure in ...
openaire   +1 more source

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

Fabry Disease (Alpha-Galactosidase A Deficiency)

2016
openaire   +1 more source

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