Medindia LOGIN REGISTER
Medindia

Latest Publications and Research on Gaucher’s Disease

Haematologica   2020 Jan 30   

Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data.

Raskovalova T, Deegan PB, Mistry PK, Pavlova E, Yang R, Zimran A, Berger J, Bourgne C, Pereira B, Labarère J, Berger MG

Chitotriosidase activity and CCL18 concentration are interchangeably used for monitoring Gaucher disease (GD) activity, together with clinical assessm ... Read More

Source: PubMed
Eur J Pain   2020 Jan 29   

Dual-action ambroxol in treatment of chronic pain in Gaucher Disease.

Pawlinski L, Krawczyk M, Fiema M, Tobor E, Kiec-Wilk B

A significant number of patients with Gaucher disease (GD) suffer from chronic or acute pain that reduces their quality of life. A mutation in lysosom ... Read More

Source: PubMed
Mol Genet Metab Rep      

Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1.

Vu L, Cox GF, Ibrahim J, Peterschmitt MJ, Ross L, Thibault N, Turpault S

Eliglustat is an oral glucosylceramide synthase inhibitor indicated for the long-term treatment of adults with Gaucher disease type 1 and CYP2D6 exten ... Read More

Source: PubMed
Diagnostics (Basel)      

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment.

Mhanni A, Boutin M, Stockl F, Johnston J, Barnes J, Duerksen D, Zimmer L, Auray-Blais C, Rockman-Greenberg C

Intraocular lesions have been infrequently reported in patients with Gaucher disease type 3 (GD3). We previously reported siblings with GD3 who respon ... Read More

Source: PubMed
Am. J. Hematol.   2020 Jan 28   

Semaphorin 7A: a novel marker of disease activity in Gaucher disease.

Franco M, Reihani N, Dupuis L, Collec E, de Villemeur TB, de Person M, Moussa F, Berger MG, Belmatoug N, Le Van Kim C

Gaucher disease (GD) is a recessively inherited lysosomal storage disorder in which sphingolipids accumulates in the macrophages that transform into G ... Read More

Source: PubMed
Haematologica   2020 Jan 30   

Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data.

Raskovalova T, Deegan PB, Mistry PK, Pavlova E, Yang R, Zimran A, Berger J, Bourgne C, Pereira B, Labarère J, Berger MG

Chitotriosidase activity and CCL18 concentration are interchangeably used for monitoring Gaucher disease (GD) activity, together with clinical assessm ... Read More

Source: PubMed
Eur J Pain   2020 Jan 29   

Dual-action ambroxol in treatment of chronic pain in Gaucher Disease.

Pawlinski L, Krawczyk M, Fiema M, Tobor E, Kiec-Wilk B

A significant number of patients with Gaucher disease (GD) suffer from chronic or acute pain that reduces their quality of life. A mutation in lysosom ... Read More

Source: PubMed
Mol Genet Metab Rep      

Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1.

Vu L, Cox GF, Ibrahim J, Peterschmitt MJ, Ross L, Thibault N, Turpault S

Eliglustat is an oral glucosylceramide synthase inhibitor indicated for the long-term treatment of adults with Gaucher disease type 1 and CYP2D6 exten ... Read More

Source: PubMed
Diagnostics (Basel)      

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment.

Mhanni A, Boutin M, Stockl F, Johnston J, Barnes J, Duerksen D, Zimmer L, Auray-Blais C, Rockman-Greenberg C

Intraocular lesions have been infrequently reported in patients with Gaucher disease type 3 (GD3). We previously reported siblings with GD3 who respon ... Read More

Source: PubMed
Am. J. Hematol.   2020 Jan 28   

Semaphorin 7A: a novel marker of disease activity in Gaucher disease.

Franco M, Reihani N, Dupuis L, Collec E, de Villemeur TB, de Person M, Moussa F, Berger MG, Belmatoug N, Le Van Kim C

Gaucher disease (GD) is a recessively inherited lysosomal storage disorder in which sphingolipids accumulates in the macrophages that transform into G ... Read More

Source: PubMed
Haematologica   2020 Jan 30   

Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data.

Raskovalova T, Deegan PB, Mistry PK, Pavlova E, Yang R, Zimran A, Berger J, Bourgne C, Pereira B, Labarère J, Berger MG

Chitotriosidase activity and CCL18 concentration are interchangeably used for monitoring Gaucher disease (GD) activity, together with clinical assessm ... Read More

Source: PubMed
Eur J Pain   2020 Jan 29   

Dual-action ambroxol in treatment of chronic pain in Gaucher Disease.

Pawlinski L, Krawczyk M, Fiema M, Tobor E, Kiec-Wilk B

A significant number of patients with Gaucher disease (GD) suffer from chronic or acute pain that reduces their quality of life. A mutation in lysosom ... Read More

Source: PubMed
Mol Genet Metab Rep      

Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1.

Vu L, Cox GF, Ibrahim J, Peterschmitt MJ, Ross L, Thibault N, Turpault S

Eliglustat is an oral glucosylceramide synthase inhibitor indicated for the long-term treatment of adults with Gaucher disease type 1 and CYP2D6 exten ... Read More

Source: PubMed
Diagnostics (Basel)      

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment.

Mhanni A, Boutin M, Stockl F, Johnston J, Barnes J, Duerksen D, Zimmer L, Auray-Blais C, Rockman-Greenberg C

Intraocular lesions have been infrequently reported in patients with Gaucher disease type 3 (GD3). We previously reported siblings with GD3 who respon ... Read More

Source: PubMed
Am. J. Hematol.   2020 Jan 28   

Semaphorin 7A: a novel marker of disease activity in Gaucher disease.

Franco M, Reihani N, Dupuis L, Collec E, de Villemeur TB, de Person M, Moussa F, Berger MG, Belmatoug N, Le Van Kim C

Gaucher disease (GD) is a recessively inherited lysosomal storage disorder in which sphingolipids accumulates in the macrophages that transform into G ... Read More

Source: PubMed
Haematologica   2020 Jan 30   

Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data.

Raskovalova T, Deegan PB, Mistry PK, Pavlova E, Yang R, Zimran A, Berger J, Bourgne C, Pereira B, Labarère J, Berger MG

Chitotriosidase activity and CCL18 concentration are interchangeably used for monitoring Gaucher disease (GD) activity, together with clinical assessm ... Read More

Source: PubMed
Eur J Pain   2020 Jan 29   

Dual-action ambroxol in treatment of chronic pain in Gaucher Disease.

Pawlinski L, Krawczyk M, Fiema M, Tobor E, Kiec-Wilk B

A significant number of patients with Gaucher disease (GD) suffer from chronic or acute pain that reduces their quality of life. A mutation in lysosom ... Read More

Source: PubMed
Mol Genet Metab Rep      

Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1.

Vu L, Cox GF, Ibrahim J, Peterschmitt MJ, Ross L, Thibault N, Turpault S

Eliglustat is an oral glucosylceramide synthase inhibitor indicated for the long-term treatment of adults with Gaucher disease type 1 and CYP2D6 exten ... Read More

Source: PubMed
Diagnostics (Basel)      

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment.

Mhanni A, Boutin M, Stockl F, Johnston J, Barnes J, Duerksen D, Zimmer L, Auray-Blais C, Rockman-Greenberg C

Intraocular lesions have been infrequently reported in patients with Gaucher disease type 3 (GD3). We previously reported siblings with GD3 who respon ... Read More

Source: PubMed
Am. J. Hematol.   2020 Jan 28   

Semaphorin 7A: a novel marker of disease activity in Gaucher disease.

Franco M, Reihani N, Dupuis L, Collec E, de Villemeur TB, de Person M, Moussa F, Berger MG, Belmatoug N, Le Van Kim C

Gaucher disease (GD) is a recessively inherited lysosomal storage disorder in which sphingolipids accumulates in the macrophages that transform into G ... Read More

Source: PubMed

Advertisement