Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity

2013 ◽  
Vol 34 (10) ◽  
pp. 1396-1403 ◽  
Author(s):  
Pilar Alfonso ◽  
Joaquín Navascués ◽  
Silvia Navarro ◽  
Pilar Medina ◽  
Alfonso Bolado-Carrancio ◽  
...  
Keyword(s):  
Disease Severity ◽  
Gaucher Disease ◽  
Glucosylceramide Synthase ◽  
Type 1 Gaucher Disease

scholarly journals Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients

2020 ◽  
Vol 155 (12) ◽  
pp. 529-534
Author(s):  
Laura López de Frutos ◽  
Pilar Alfonso ◽  
Carlos Lahoz ◽  
Pilar Irún ◽  
Pilar Giraldo
Keyword(s):  
Gaucher Disease ◽  
Phenotypic Characterization ◽  
Type 1 Gaucher Disease

scholarly journals Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients

2020 ◽  
Vol 155 (12) ◽  
pp. 529-534
Author(s):  
Laura López de Frutos ◽  
Pilar Alfonso ◽  
Carlos Lahoz ◽  
Pilar Irún ◽  
Pilar Giraldo
Keyword(s):  
Gaucher Disease ◽  
Phenotypic Characterization ◽  
Type 1 Gaucher Disease

Type 1 Gaucher Disease: Molecular, Biochemical, and Clinical Characterization of Patients from Northern Portugal

1993 ◽  
Vol 49 (1) ◽  
pp. 97-107 ◽  
Author(s):  
O. Amaral ◽  
L. Lacerda ◽  
R. Santos ◽  
R.A. Pinto ◽  
H. Aerts ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Northern Portugal ◽  
Type 1 Gaucher Disease

scholarly journals A validated disease severity scoring system for adults with type 1 Gaucher disease

2009 ◽  
Vol 12 (1) ◽  
pp. 44-51 ◽  
Author(s):  
Neal J Weinreb ◽  
Maria D Cappellini ◽  
Timothy M Cox ◽  
Edward H Giannini ◽  
Gregory A Grabowski ◽  
...  
Keyword(s):  
Disease Severity ◽  
Scoring System ◽  
Gaucher Disease ◽  
Severity Scoring ◽  
Type 1 Gaucher Disease

Characterization of N409H/R535H (N370S/R496H) genotype in type 1 Gaucher disease

2018 ◽  
Vol 123 (2) ◽  
pp. S152
Author(s):  
Natasha Zeid ◽  
Chanan Stauffer ◽  
Amy Yang ◽  
Manisha Balwani
Keyword(s):  
Gaucher Disease ◽  
Type 1 Gaucher Disease
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