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Osteopenia in Egyptian Gaucher disease type 3 patients: An 11 year prospective study
Molecular Genetics and Metabolism
◽
10.1016/j.ymgme.2017.12.010
◽
2018
◽
Vol 123
(2)
◽
pp. S15
Author(s):
Magy Abdelwahab
◽
Paige Kaplan
Keyword(s):
Prospective Study
◽
Gaucher Disease
◽
Disease Type
◽
Type 3
Download Full-text
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References
Characterization of epilepsy in a large Egyptian Gaucher disease type 3 (GD3) cohort: A 12-year prospective study
Molecular Genetics and Metabolism
◽
10.1016/j.ymgme.2018.12.018
◽
2019
◽
Vol 126
(2)
◽
pp. S17
Author(s):
Magy Abdelwahab
◽
Nehal Hassib
◽
Raphael Schiffmann
Keyword(s):
Prospective Study
◽
Gaucher Disease
◽
Disease Type
◽
Type 3
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Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3
Molecular Genetics and Metabolism
◽
10.1016/j.ymgme.2020.12.229
◽
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
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Vitreous Changes in Gaucher Disease Type 3
Ophthalmology
◽
10.1016/j.ophtha.2020.02.019
◽
2020
◽
Vol 127
(6)
◽
pp. 813
Author(s):
Veronique Promelle
◽
Ramona Salvarinova
◽
Christopher J. Lyons
Keyword(s):
Gaucher Disease
◽
Disease Type
◽
Type 3
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A Prospective Study of Insulin Resistance in Gaucher Disease Type 1 Patients with Normal Weight, under Enzyme Replacement Therapy
Acta Endocrinologica (Bucharest)
◽
10.4183/aeb.2015.180
◽
2015
◽
Vol 11
(2)
◽
pp. 180-188
◽
Cited By ~ 1
Author(s):
A. Zimmermann
Keyword(s):
Insulin Resistance
◽
Enzyme Replacement Therapy
◽
Prospective Study
◽
Gaucher Disease
◽
Normal Weight
◽
Disease Type
◽
Enzyme Replacement
◽
Gaucher Disease Type 1
◽
A Prospective Study
Download Full-text
Perspective of patients and caregivers on the disturbance of the disease manifestations of Gaucher disease type 3 on patient's daily lives
Molecular Genetics and Metabolism
◽
10.1016/j.ymgme.2019.11.358
◽
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
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Rare cause of protein losing enteropathy: Gaucher disease type 3
Molecular Genetics and Metabolism
◽
10.1016/j.ymgme.2019.11.149
◽
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
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Mesenteric lymphadenopathy and protein-losing enteropathy in Gaucher disease type 3 despite combined enzyme replacement & substrate reduction therapy
Clinical Biochemistry
◽
10.1016/j.clinbiochem.2014.07.044
◽
2014
◽
Vol 47
(15)
◽
pp. 139
Author(s):
A. Mhanni
◽
C. Greenberg
◽
M. Deneau
◽
J. Hartley
Keyword(s):
Gaucher Disease
◽
Disease Type
◽
Substrate Reduction Therapy
◽
Protein Losing Enteropathy
◽
Enzyme Replacement
◽
Substrate Reduction
◽
Type 3
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UNIPARENTAL DISOMY OF CHROMOSOME 1 CAUSING CONCURRENT CHARCOT-MARIE-TOOTH AND GAUCHER DISEASE TYPE 3
Neurology
◽
10.1212/01.wnl.0000305963.37449.32
◽
2008
◽
Vol 70
(12)
◽
pp. 976-978
◽
Cited By ~ 15
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
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Optimization of Eliglustat-Based Glucosylceramide Synthase Inhibitors as Substrate Reduction Therapy for Gaucher Disease Type 3
ACS Chemical Neuroscience
◽
10.1021/acschemneuro.0c00558
◽
2020
◽
Vol 11
(20)
◽
pp. 3464-3473
Author(s):
Michael W. Wilson
◽
Liming Shu
◽
Vania Hinkovska-Galcheva
◽
Yafei Jin
◽
Walajapet Rajeswaran
◽
...
Keyword(s):
Gaucher Disease
◽
Disease Type
◽
Substrate Reduction Therapy
◽
Glucosylceramide Synthase
◽
Substrate Reduction
◽
Type 3
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Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 3
Brain and Development
◽
10.1016/j.braindev.2021.12.002
◽
2022
◽
Author(s):
Mayu Tahara
◽
Norimichi Higurashi
◽
Aya Narita
◽
Hiroyuki Ida
Keyword(s):
Gaucher Disease
◽
Low Dose
◽
Disease Type
◽
Term Efficacy
◽
Progressive Myoclonus Epilepsy
◽
Myoclonus Epilepsy
◽
Type 3
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