As you can see, I’ve done a bit of redecorating around here. Here is why (and my ultimate goal for Hannah’s blog): To make it easier for friends and family to follow Hannah’s story (Hannah posts on the main page instead of everything like research, etc.) To become a home for other GD23 families to […]
[Continue reading...]Potential efficacy of ERT and SRT in three siblings with Gaucher Disease type 3.
1 Mar by
Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III. J Inherit Metab Dis. 2008 Dec;31(6):745-52 Authors: Cox-Brinkman J, van Breemen MJ, van Maldegem BT, Bour L, Donker WE, Hollak CE, Wijburg FA, Aerts JM We report three siblings with Gaucher disease type III, born between 1992 and […]
[Continue reading...]Spectrum of parkinsonian manifestations …
1 Mar by
Spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations Arch Neurol. 2008 Oct;65(10):1353-7 Authors: Goker-Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E BACKGROUND: Mutations in the glucocerebrosidase gene (GBA) result in Gaucher disease and can be associated with a phenotype characterized by adult-onset progressive neurologic deterioration and parkinsonism. OBJECTIVE: To define the […]
[Continue reading...]Diltiazem, a L-type Ca(2+) channel blocker…
1 Mar by
Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells. Mol Genet Metab. 2009 Jan 21; Authors: Rigat B, Mahuran D Recently, inhibition of L-type Ca(2+) channels, using either Diltiazem or Verapamil, has been reported to partially restore mutant glucocerebrosidase activity in cells from patients with Gaucher disease homozygous […]
[Continue reading...]Trial of miglustat in Gaucher’s disease type 3.
1 Mar by
Randomized, controlled trial of miglustat in Gaucher’s disease type 3. Ann Neurol. 2008 Nov;64(5):514-22 Authors: Schiffmann R, Fitzgibbon EJ, Harris C, DeVile C, Davies EH, Abel L, van Schaik IN, Benko W, Timmons M, Ries M, Vellodi A OBJECTIVE: To evaluate the efficacy and safety of miglustat, concomitant with enzyme replacement therapy (ERT), in patients […]
[Continue reading...]Hannah… a Supreme Court Justice?
1 Mar by
When Daddy and I were coming up with names for our first daughter, he didn’t want any cutesy names because “that is not a good Supreme Court Justice name.” Yep, every name we picked out for Abigail was something that was “worthy” of a justice. Even when we were pregnant with Hannah, this was still […]
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