Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1

2004 ◽  
Vol 25 (1) ◽  
pp. 100-100 ◽  
Author(s):  
Snje?ana Mio?i? ◽  
Mirella Filocamo ◽  
Silvia Dominissini ◽  
Anna Lisa E. Montalvo ◽  
Kristian Vlahovi?ek ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Functional Characterization ◽  
Disease Type ◽  
Gaucher Disease Type 1

Gaucher Disease Type 1: Cloning and Characterization of a cDNA Encoding Acid β-Glucosidase from an Ashkenazi Jewish Patient

DNA ◽  
1988 ◽  
Vol 7 (8) ◽  
pp. 521-528 ◽  
Author(s):  
PETER N. GRAVES ◽  
GREGORY A. GRABOWSKI ◽  
ROBIN EISNER ◽  
PETER PALESE ◽  
FRANCES I. SMITH
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Ashkenazi Jewish ◽  
Jewish Patient ◽  
Gaucher Disease Type 1

Transition to eliglustat in an individual with Gaucher disease type 1 on antipsychotic medication

2021 ◽  
Vol 132 (2) ◽  
pp. S80
Author(s):  
Damara Ortiz ◽  
Joshua Barch ◽  
Kayla Segady ◽  
Nadene Henderson
Keyword(s):  
Antipsychotic Medication ◽  
Gaucher Disease ◽  
Disease Type ◽  
Gaucher Disease Type 1

scholarly journals Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)

Diagnostics ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 989
Author(s):  
Cecilia Lazea ◽  
Simona Bucerzan ◽  
Camelia Al-Khzouz ◽  
Anca Zimmermann ◽  
Ștefan Cristian Vesa ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Cardiac Involvement ◽  
Disease Type ◽  
Clinical Onset ◽  
Lysosomal Disorders ◽  
Electrocardiographic Changes ◽  
Gaucher Disease Type 1 ◽  
And Function ◽  
Cardiac Manifestations

Gaucher disease (GD), one of the most common lysosomal disorders, is characterised by clinical heterogeneity. Cardiac involvement is rare and refers to pulmonary hypertension (PH), valvular abnormalities and myocardial infiltrative damage. The aim of this study was to evaluate cardiac involvement in a group of Romanian GD patients. Phenotypic and genotypic characterisation was carried out in 69 patients with GD type 1. Annual echocardiography and electrocardiography were performed to assess pulmonary pressure, morphology and function of the valves and electrocardiographic changes. Nine patients (13%) exhibited baseline echocardiographic signs suggesting PH. Mitral regurgitation was present in 33 patients (48%) and aortic regurgitation in 11 patients (16%). One patient presented aortic stenosis. Significant valvular dysfunction was diagnosed in 10% of patients. PH was associated with greater age (p < 0.001), longer time since splenectomy (p = 0.045) and longer time between clinical onset and the start of enzyme replacing therapy (p < 0.001). Electrocardiographic changes were present in five patients (7%).

Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

2019 ◽  
Vol 77 ◽  
pp. 101-102 ◽  
Author(s):  
Pramod K. Mistry ◽  
Manisha Balwani ◽  
Hagit N. Baris ◽  
Hadhami Ben Turkia ◽  
T. Andrew Burrow ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
First Line ◽  
First Line Therapy ◽  
Line Therapy ◽  
Letter To The Editor ◽  
Gaucher Disease Type 1

scholarly journals Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment

2021 ◽  
Vol 132 (2) ◽  
pp. 100-111
Author(s):  
Neal J. Weinreb ◽  
José Simon Camelo ◽  
Joel Charrow ◽  
Monica R. McClain ◽  
Pramod Mistry ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Gaucher Disease Type 1

Improvements in skeletal manifestations in gaucher disease Type 1 patients receiving oral eliglustat during a phase 2 trial

2011 ◽  
Vol 102 (2) ◽  
pp. S23
Author(s):  
Ravi Kamath ◽  
Elena Lukina ◽  
Nora Watman ◽  
Marta Dragosky ◽  
Marcelo Iastrebner ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Phase 2 ◽  
Phase 2 Trial ◽  
Gaucher Disease Type 1

scholarly journals Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug–drug interactions

2016 ◽  
Vol 117 (2) ◽  
pp. 172-178 ◽  
Author(s):  
Jeanine Utz ◽  
Chester B. Whitley ◽  
Paul L.M. van Giersbergen ◽  
Stefan A. Kolb
Keyword(s):  
Drug Interactions ◽  
Gaucher Disease ◽  
Disease Type ◽  
Gaucher Disease Type 1
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