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

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

scholarly journals Identification and Characterization of a Novel Mutation M579Fs+75X in HERG

2011 ◽  
Vol 27 (Supplement) ◽  
pp. PJ3_045
Author(s):  
Yukiko Hata ◽  
Hisashi Mori ◽  
Ayumi Tanaka ◽  
Yosuke Fujita ◽  
Takeshi Shimomura ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Identification And Characterization

Identification and Characterization of a Novel Mutation in the Carbonic Anhydrase IV Gene that Causes Retinitis Pigmentosa

2007 ◽  
Vol 48 (8) ◽  
pp. 3459 ◽  
Author(s):  
Bernardo V. Alvarez ◽  
Eranga N. Vithana ◽  
Zhenglin Yang ◽  
Adrian H. Koh ◽  
Kit Yeung ◽  
...  
Keyword(s):  
Carbonic Anhydrase ◽  
Retinitis Pigmentosa ◽  
Novel Mutation ◽  
Carbonic Anhydrase Iv ◽  
Identification And Characterization

Congenital Hypothyroidism and Late-Onset Goiter: Identification and Characterization of a Novel Mutation in the Sodium/Iodide Symporter of the Proband and Family Members

Thyroid ◽  
2009 ◽  
Vol 19 (12) ◽  
pp. 1419-1425 ◽  
Author(s):  
Lucia Montanelli ◽  
Patrizia Agretti ◽  
Giuseppina de Marco ◽  
Brunella Bagattini ◽  
Claudia Ceccarelli ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Sodium Iodide ◽  
Late Onset ◽  
Novel Mutation ◽  
Family Members ◽  
Sodium Iodide Symporter ◽  
Identification And Characterization

Metabolomic study for the identification and characterization of novel Gaucher disease biomarkers

2021 ◽  
Vol 132 (2) ◽  
pp. S71
Author(s):  
Iskren Menkovic ◽  
Michel Boutin ◽  
Abdulfatah Alayoubi ◽  
François Mercier ◽  
Georges-Étienne Rivard ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Biomarkers ◽  
Identification And Characterization ◽  
Metabolomic Study
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