Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease

2011 ◽  
Vol 412 (3-4) ◽  
pp. 365-369 ◽  
Author(s):  
Pilar Alfonso ◽  
Sandra Pampín ◽  
Beatriz García-Rodríguez ◽  
Teresa Tejedor ◽  
Carmen Domínguez ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Glucocerebrosidase Gene

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease

2014 ◽  
Vol 59 (4) ◽  
pp. 223-228 ◽  
Author(s):  
Chitra Ankleshwaria ◽  
Mehul Mistri ◽  
Ashish Bavdekar ◽  
Mamta Muranjan ◽  
Usha Dave ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutations ◽  
Indian Patients ◽  
Glucocerebrosidase Gene

scholarly journals Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

2009 ◽  
Vol 284 (35) ◽  
pp. 23502-23516 ◽  
Author(s):  
Gustavo H. B. Maegawa ◽  
Michael B. Tropak ◽  
Justin D. Buttner ◽  
Brigitte A. Rigat ◽  
Maria Fuller ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Identification And Characterization ◽  
Enzyme Enhancement

1.216 Phenotypic characterization of parkinsonism in seven patients with Gaucher Disease

2007 ◽  
Vol 13 ◽  
pp. S64
Author(s):  
S. Sathe ◽  
G. Pastores ◽  
E. Kolodny ◽  
A. Di Rocco
Keyword(s):  
Gaucher Disease ◽  
Phenotypic Characterization

scholarly journals Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene

2017 ◽  
Vol 173 (12) ◽  
pp. 3211-3215 ◽  
Author(s):  
Ermias Hagege ◽  
Richard J. Grey ◽  
Grisel Lopez ◽  
Tamanna Roshan Lal ◽  
Ellen Sidransky ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Glucocerebrosidase Gene

Characterization of 4L/PS-NA mice for enzyme activity, substrate concentrations as well as inflammation to model Gaucher disease

2019 ◽  
Vol 126 (2) ◽  
pp. S109
Author(s):  
Vera Niederkofler ◽  
Ewald Auer ◽  
Victoria Schiffer ◽  
Tina Loeffler ◽  
Joerg Neddens ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Gaucher Disease ◽  
Substrate Concentrations

Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish Patients

2001 ◽  
Vol 27 (2) ◽  
pp. 489-495 ◽  
Author(s):  
M.A. Torralba ◽  
J.I. Pérez-Calvo ◽  
G.M. Pastores ◽  
A. Cenarro ◽  
P. Giraldo ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Identification And Characterization

Molecular and functional characterization of the murine glucocerebrosidase gene

1992 ◽  
Vol 184 (3) ◽  
pp. 1477-1483 ◽  
Author(s):  
Eugene D. Carstea ◽  
Gary J. Murray ◽  
Raymond R. O'Neill
Keyword(s):  
Functional Characterization ◽  
Glucocerebrosidase Gene

scholarly journals A Prenatal Lethal Form of Type 2 Gaucher Disease Resulting from a Novel Frameshift Mutation in the Glucocerebrosidase Gene. † 632

1997 ◽  
Vol 41 ◽  
pp. 108-108
Author(s):  
Nahid Tayebi ◽  
Wim J. Kleijer ◽  
Kathryn Reissner ◽  
Jan Den Hollander ◽  
Shana Cushner ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Frameshift Mutation ◽  
Glucocerebrosidase Gene
Sign in / Sign up

Export Citation Format

Share Document