Characterization of epilepsy in a large Egyptian Gaucher disease type 3 (GD3) cohort: A 12-year prospective study

2019 ◽  
Vol 126 (2) ◽  
pp. S17
Author(s):  
Magy Abdelwahab ◽  
Nehal Hassib ◽  
Raphael Schiffmann
Keyword(s):  
Prospective Study ◽  
Gaucher Disease ◽  
Disease Type ◽  
Type 3

Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3

2021 ◽  
Vol 132 (2) ◽  
pp. S95
Author(s):  
Raphael Schiffmann ◽  
Timothy Cox ◽  
Jean-François Dedieu ◽  
Sebastiaan Gaemers ◽  
Julia B. Hennermann ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Brain Connectivity ◽  
Disease Type ◽  
Neurological Features ◽  
Type 3

scholarly journals Vitreous Changes in Gaucher Disease Type 3

Ophthalmology ◽  
2020 ◽  
Vol 127 (6) ◽  
pp. 813
Author(s):  
Veronique Promelle ◽  
Ramona Salvarinova ◽  
Christopher J. Lyons
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Type 3

Perspective of patients and caregivers on the disturbance of the disease manifestations of Gaucher disease type 3 on patient's daily lives

2020 ◽  
Vol 129 (2) ◽  
pp. S136
Author(s):  
Camille Rochmann ◽  
Ruth Pulikottil-Jacob ◽  
Robert Krupnick ◽  
Nicole Sparling ◽  
James Turnbull ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Daily Lives ◽  
Type 3

Rare cause of protein losing enteropathy: Gaucher disease type 3

2020 ◽  
Vol 129 (2) ◽  
pp. S64
Author(s):  
Mehmet Akif Goktas ◽  
Ersin Gümüs ◽  
Hayriye Hizarcioglu Gülsen ◽  
Hülya Demir ◽  
İnci Nur Saltik Temizel ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Protein Losing Enteropathy ◽  
Type 3

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

scholarly journals UNIPARENTAL DISOMY OF CHROMOSOME 1 CAUSING CONCURRENT CHARCOT-MARIE-TOOTH AND GAUCHER DISEASE TYPE 3

Neurology ◽  
2008 ◽  
Vol 70 (12) ◽  
pp. 976-978 ◽  
Author(s):  
W. S. Benko ◽  
K. S. Hruska ◽  
N. Nagan ◽  
O. Goker-Alpan ◽  
P. S. Hart ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Uniparental Disomy ◽  
Disease Type ◽  
Chromosome 1 ◽  
Charcot Marie Tooth ◽  
Type 3

Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients

2007 ◽  
Vol 39 (3) ◽  
pp. 348-352 ◽  
Author(s):  
P. Suwannarat ◽  
S. Keeratichamroen ◽  
D. Wattanasirichaigoon ◽  
L. Ngiwsara ◽  
J.R.K. Cairns ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Gaucher Disease ◽  
Type 3
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