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Page 1
Gaucher Disease.
Stone WL, Basit H, Mukkamalla SKR, Master SR. Stone WL, et al. 2023 Nov 12. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Nov 12. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 28846219 Free Books & Documents.
Gaucher disease (pronounced as GO-SHEY) is an autosomal recessive inborn error of metabolism caused by mutations in the glucocerebrosidase (GBA1) gene. ...Named after the French physician Philippe Charles Ernest Gaucher, who first described it in 1882, this i …
Gaucher disease (pronounced as GO-SHEY) is an autosomal recessive inborn error of metabolism caused by mutations in the glucocerebros …
Pegcetacoplan for the treatment of geographic atrophy secondary to age-related macular degeneration (OAKS and DERBY): two multicentre, randomised, double-masked, sham-controlled, phase 3 trials.
Heier JS, Lad EM, Holz FG, Rosenfeld PJ, Guymer RH, Boyer D, Grossi F, Baumal CR, Korobelnik JF, Slakter JS, Waheed NK, Metlapally R, Pearce I, Steinle N, Francone AA, Hu A, Lally DR, Deschatelets P, Francois C, Bliss C, Staurenghi G, Monés J, Singh RP, Ribeiro R, Wykoff CC; OAKS and DERBY study investigators. Heier JS, et al. Lancet. 2023 Oct 21;402(10411):1434-1448. doi: 10.1016/S0140-6736(23)01520-9. Lancet. 2023. PMID: 37865470 Clinical Trial.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
Wallace EL, Goker-Alpan O, Wilcox WR, Holida M, Bernat J, Longo N, Linhart A, Hughes DA, Hopkin RJ, Tøndel C, Langeveld M, Giraldo P, Pisani A, Germain DP, Mehta A, Deegan PB, Molnar MJ, Ortiz D, Jovanovic A, Muriello M, Barshop BA, Kimonis V, Vujkovac B, Nowak A, Geberhiwot T, Kantola I, Knoll J, Waldek S, Nedd K, Karaa A, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Sakov A, Warnock DG. Wallace EL, et al. J Med Genet. 2023 Nov 8:jmg-2023-109445. doi: 10.1136/jmg-2023-109445. Online ahead of print. J Med Genet. 2023. PMID: 37940383 Free article.
Treating lysosomal storage disorders: What have we learnt?
Lachmann RH. Lachmann RH. J Inherit Metab Dis. 2020 Jan;43(1):125-132. doi: 10.1002/jimd.12131. Epub 2019 Jun 26. J Inherit Metab Dis. 2020. PMID: 31140601 Review.
The first enzyme replacement therapy (ERT) for a lysosomal storage disorder (LSD) was approved in 1991 and we now have more than 25 years of experience of treating patients with type 1 Gaucher disease. Because of the remarkable success of this therapy, enormous effort and …
The first enzyme replacement therapy (ERT) for a lysosomal storage disorder (LSD) was approved in 1991 and we now have more than 25 years of …
The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease.
Kinghorn KJ, Asghari AM, Castillo-Quan JI. Kinghorn KJ, et al. Neural Regen Res. 2017 Mar;12(3):380-384. doi: 10.4103/1673-5374.202934. Neural Regen Res. 2017. PMID: 28469644 Free PMC article. Review.
Gaucher disease (GD), the commonest lysosomal storage disorder, results from the lack or functional deficiency of glucocerebrosidase (GCase) secondary to mutations in the GBA1 gene. ...
Gaucher disease (GD), the commonest lysosomal storage disorder, results from the lack or functional deficiency of glucocerebrosidase …
Enzyme replacement therapy for lysosomal storage diseases.
Lachmann RH. Lachmann RH. Curr Opin Pediatr. 2011 Dec;23(6):588-93. doi: 10.1097/MOP.0b013e32834c20d9. Curr Opin Pediatr. 2011. PMID: 21946346 Review.
PURPOSE OF REVIEW: Enzyme replacement therapy (ERT) for type 1 Gaucher has been highly successful. ERT is now available for other lysosomal storage disorders (LSDs) but none of these highly expensive treatments has had the same efficacy. This review explores why these newe …
PURPOSE OF REVIEW: Enzyme replacement therapy (ERT) for type 1 Gaucher has been highly successful. ERT is now available for other lys …
Perinatal-lethal Gaucher disease presenting as hydrops fetalis.
BenHamida E, Ayadi I, Ouertani I, Chammem M, Bezzine A, BenTmime R, Attia L, Mrad R, Marrakchi Z. BenHamida E, et al. Pan Afr Med J. 2015 Jun 10;21:110. doi: 10.11604/pamj.2015.21.110.7052. eCollection 2015. Pan Afr Med J. 2015. PMID: 26327947 Free PMC article.
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. ...We report a case of Gaucher's disease (type 2) diagnosed in a newborn who presented with Hydrops Fetalis....
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonata …
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
Malinová V, Poupětová H, Řeboun M, Dvořáková L, Reichmannová S, Švandová I, Murgašová L, Kasper DC, Magner M. Malinová V, et al. Int J Mol Sci. 2023 Sep 22;24(19):14440. doi: 10.3390/ijms241914440. Int J Mol Sci. 2023. PMID: 37833892 Free PMC article.
A personalized treatment decision for Gaucher disease (GD) patients should be based on relevant markers that are specific to GD, play a direct role in GD pathophysiology, exhibit low genetic variation, reflect the therapy, and can be used for all patients. ...
A personalized treatment decision for Gaucher disease (GD) patients should be based on relevant markers that are specific to GD, play …
48 results