http://www3.interscience.wiley.com/journal/122441884/abstract?CRETRY=1&SRETRY=0 Ichraf Kraoua, MD 1, Jérôme Stirnemann, MD 2, Maria João Ribeiro, MD, PhD 3, Tiphaine Rouaud, MD 4, Marc Verin, MD, PhD 4, Agnès Annic, MD 5, Christian Rose, MD, PhD 6, Luc Defebvre, MD, PhD 5, Liliane Réménieras, MD 7, Michaël Schüpbach, MD 1, Nadia Belmatoug, MD 8, Marie Vidailhet, MD 1 9, […]
[Continue reading...]Glucocerebrosidase mutations in clinical and pathologically proven Parkinson’s disease
30 Jun by
http://brain.oxfordjournals.org/cgi/content/short/132/7/1783?rss=1 Glucocerebrosidase mutations in clinical and pathologically proven Parkinson’s disease Juliane Neumann1,2, Jose Bras3,4,*, Emma Deas1,*, Sean S. O’Sullivan1, Laura Parkkinen1, Robin H. Lachmann1, Abi Li1, Janice Holton1, Rita Guerreiro3,4, Reema Paudel1, Badmavady Segarane1, Andrew Singleton3, Andrew Lees1, John Hardy1, Henry Houlden1, Tamas Revesz1 and Nicholas W. Wood1 1 Department of Molecular Neuroscience, Institute of […]
[Continue reading...]Impaired IL-10 transcription and release in animal models of Gaucher disease macrophages
30 Jun by
http://www.ncbi.nlm.nih.gov/pubmed/19380242?dopt=Abstract Kacher Y, Futerman AH. Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel. A number of studies have shown altered cytokine levels in serum from Gaucher disease patients, including changes in levels of the anti-inflammatory cytokine, interleukin-10 (IL-10). However, the source of IL-10, or the mechanisms leading to changes in IL-10 serum levels […]
[Continue reading...]Houston, we have a tooth!
29 Jun by
Yes, I know I was worried about Hannah getting her teeth in. But you know what has now popped through her lower middle gum? Yep! We have the top ridge of a tooth! OMG, I was jumping up and down with joy today when I saw that. I know, it was silly. Even better, the […]
[Continue reading...]Important Cerezyme update from Genzyme!
28 Jun by
Hannah is going to get her treatments!! I talked to my contact on Friday who told me that Hannah and the other GD23 children will not miss any treatments. These children (and all children under 18 who have Gaucher’s disease) are their top priority in terms of receiving the rations of what is left during […]
[Continue reading...]Fear of the dark?
28 Jun by
These past few days in Austin have been really eye opening with Hannah and her “issues.” On the drive over here, Hannah started crying and starting to hyperventilate again. It was only about 30 minutes into our 4-hour drive. I started getting nervous, but I was able to calm her down once Daddy put the […]
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