scholarly journals Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)

2006 ◽  
Vol 7 (1) ◽  
Author(s):  
Justin T Brown ◽  
Cora Lahey ◽  
Walairat Laosinchai-Wolf ◽  
Andrew G Hadd
Keyword(s):  
Gaucher Disease ◽  
Clinical Analysis ◽  
Disease Allele ◽  
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 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 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

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

Retroviral Transfer of the Glucocerebrosidase Gene into CD34+ Cells from Patients with Gaucher Disease: In Vivo Detection of Transduced Cells without Myeloablation

1998 ◽  
Vol 9 (17) ◽  
pp. 2629-2640 ◽  
Author(s):  
Cynthia E. Dunbar ◽  
Donald B. Kohn ◽  
Raphael Schiffmann ◽  
Norman W. Barton ◽  
Jan A. Nolta ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
In Vivo Detection ◽  
Cd34 Cells ◽  
Glucocerebrosidase Gene ◽  
Retroviral Transfer

scholarly journals Gaucher disease type 2 (case report)

2020 ◽  
Vol 15 (2) ◽  
pp. 60-64
Author(s):  
D. R. Shagieva ◽  
R. V. Magzhanov ◽  
A. R. Rakhmatullin ◽  
E. V. Sayfullina ◽  
R. G. Musin
Keyword(s):  
Congenital Malformations ◽  
Gaucher Disease ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Clinical Analysis ◽  
Molecular Genetic Analysis ◽  
Oval Window ◽  
Disease Type ◽  
Lysosomal Accumulation

The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the clinical analysis of blood (anemia, thrombocytopenia), hepatosplenomegaly, congenital malformations (open arterial duct, open oval window) and severe neurologic deficit.

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