Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 3

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

scholarly journals Long-term Efficacy and Safety of Piracetam in the Treatment of Progressive Myoclonus Epilepsy

2001 ◽  
Vol 58 (5) ◽  
pp. 781 ◽  
Author(s):  
Marco Fedi ◽  
David Reutens ◽  
François Dubeau ◽  
Eva Andermann ◽  
Daniela D'Agostino ◽  
...  
Keyword(s):  
Efficacy And Safety ◽  
Term Efficacy ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

Maintenance Efficacy of Low Dose Imiglucerase for Gaucher Disease

2020 ◽  
Author(s):  
Zhengqing Qiu ◽  
Baohui Zhang ◽  
Yuhang Song ◽  
Hongbing Zhang ◽  
Yuting Wu
Keyword(s):  
Gaucher Disease ◽  
Low Dose ◽  
Standard Dose ◽  
Mineral Density ◽  
Recommended Treatment ◽  
Type 3 ◽  
Term Maintenance

Abstract Background Imiglucerase is the recommended treatment for Gaucher disease (GD), a hereditary metabolic disease. In high risk adults and all children, the minimum recommended dose for long-term maintenance is 30 U/kg/2 weeks. However, the extremely high cost of this enzyme largely hinders its clinical use. The minimal maintenance dose of imiglucerase has thus been a subject of debate. We aimed to analyze the long-term maintenance outcomes of imiglucerase at dosage < 20 U/kg/2 weeks after standard dose. Methods Seventeen patients with GD type 1 or GD type 3 were enrolled for analysis. We evaluated maintenance efficacy of imiglucerase on hemoglobin, platelet, visceral volumes and bone conditions during the 7-year follow-up. Results Parameters on hemoglobin, platelet, liver, and spleen volumes of all patients were stabilized or improved. Seven out of 14 patients showed bone mineral density improvement. Three out of 16 patients showed worse bone pain; 6 out of 15 patients showed worse Erlenmeyer flask; 6 out of 15 patients showed worse bone infarction; 1 out of 16 patients showed worse marrow infiltration and 3 out of 15 patients showed worse osteonecrosis. Conclusions Imiglucerase less than 20 U/kg/2 weeks is enough to maintain blood and visceral parameters, but is not sufficient to stabilize skeletal conditions.

scholarly journals Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt

2016 ◽  
Vol 2 (2) ◽  
pp. e55 ◽  
Author(s):  
Magy Abdelwahab ◽  
Derek Blankenship ◽  
Raphael Schiffmann
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Sudden Unexpected Death ◽  
Unexpected Death ◽  
Long Term Follow Up ◽  
Type 3

Long-term follow up and sudden unexpected death in Gaucher disease type 3 in Egypt

2016 ◽  
Vol 117 (2) ◽  
pp. S14 ◽  
Author(s):  
Magy Abdelwahab ◽  
Derek Blankenship ◽  
Raphael Schiffmann
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Sudden Unexpected Death ◽  
Unexpected Death ◽  
Long Term Follow Up ◽  
Type 3

scholarly journals The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy

2016 ◽  
Vol 121 (3) ◽  
pp. 192-195 ◽  
Author(s):  
Nadia Sawicka-Gutaj ◽  
Maciej Machaczka ◽  
Izabela Kulińska-Niedziela ◽  
Jadwiga Bernardczyk-Meller ◽  
Paweł Gutaj ◽  
...  
Keyword(s):  
Replacement Therapy ◽  
Gaucher Disease ◽  
Disease Type ◽  
Type 3

Long term follow up of the Mainz cohort of Gaucher disease type 3 patients

2013 ◽  
Vol 108 (2) ◽  
pp. S65-S66
Author(s):  
Eugen Mengel ◽  
Juliane Arndt ◽  
Jörg Reinke ◽  
Michael Beck
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Long Term Follow Up ◽  
Type 3

scholarly journals Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

2017 ◽  
Vol 120 (1-2) ◽  
pp. 47-56 ◽  
Author(s):  
Amal El-Beshlawy ◽  
Anna Tylki-Szymanska ◽  
Ashok Vellodi ◽  
Nadia Belmatoug ◽  
Gregory A. Grabowski ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Growth Outcomes ◽  
International Collaborative ◽  
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

Individualized long-term enzyme therapy for Gaucher disease type 1 in Slovenia

2011 ◽  
Vol 53 (6) ◽  
pp. 1018-1022 ◽  
Author(s):  
Majda Benedik-Dolničar ◽  
Lidija Kitanovski
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Enzyme Therapy ◽  
Gaucher Disease Type 1
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