scholarly journals Gaucher Disease in the Neonate: A Distinct Gaucher Phenotype Is Analogous to a Mouse Model Created by Targeted Disruption of the Glucocerebrosidase Gene

1992 ◽  
Vol 32 (4) ◽  
pp. 494-498 ◽  
Author(s):  
Ellen Sidransky ◽  
David M Sherer ◽  
Edward I Ginns
Keyword(s):  
Mouse Model ◽  
Gaucher Disease ◽  
Targeted Disruption ◽  
Glucocerebrosidase Gene

AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease

2006 ◽  
Vol 8 (6) ◽  
pp. 719-729 ◽  
Author(s):  
Kerry Anne McEachern ◽  
Jennifer B. Nietupski ◽  
Wei-Lien Chuang ◽  
Donna Armentano ◽  
Jennifer Johnson ◽  
...  
Keyword(s):  
Mouse Model ◽  
Gaucher Disease ◽  
Visceral Organs

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 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

scholarly journals A Chimeric Mouse Model of Gaucher Disease

2002 ◽  
Vol 8 (5) ◽  
pp. 247-250 ◽  
Author(s):  
Ernest Beutler ◽  
Carol West ◽  
Bruce E. Torbett ◽  
Hiroshi Deguchi
Keyword(s):  
Mouse Model ◽  
Gaucher Disease ◽  
Chimeric Mouse ◽  
Chimeric Mouse Model

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

scholarly journals Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration

2013 ◽  
Vol 23 (4) ◽  
pp. 843-854 ◽  
Author(s):  
T. Farfel-Becker ◽  
E. B. Vitner ◽  
S. L. Kelly ◽  
J. R. Bame ◽  
J. Duan ◽  
...  
Keyword(s):  
Mouse Model ◽  
Gaucher Disease

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

Phenotypic characterization of mice with targeted disruption of glycosylasparaginase gene: A mouse model for aspartylglycosaminuria

1998 ◽  
Vol 21 (3) ◽  
pp. 207-209 ◽  
Author(s):  
V. Kaartinen ◽  
I. Mononen ◽  
I. Gonzales-Gomez ◽  
T. Noronkoski ◽  
N. Heisterkamp ◽  
...  
Keyword(s):  
Mouse Model ◽  
Phenotypic Characterization ◽  
Targeted Disruption
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