Most journal of rare disease related news are at:
Chemotherapy for the treatment of malignant peripheral nerve sheath tumors in neurofibromatosis 1: a 10-year institutional review 23 Aug 2013 | 05:00 am
Background: Neurofibromatosis 1 (NF1) is the most common autosomal dominant disorder, with an incidence of 1 in 2,500-3,300 live births. NF1 is associated with significant morbidity and mortality beca...
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder 17 Aug 2013 | 05:00 am
Background: To elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing.Methods and results: We identifi...
More journal of rare disease related news:
Malattia di Fabry: nuovo farmaco sperimentale befarmacista.it 28 Jun 2011 | 03:05 am
Un nuovo farmaco sperimentale, in grado di curare alcune forme della patologia genetica, frutto di una nuova ricerca pubblicata su Orphanet Journal of Rare Diseases. Può manifestarsi in forme molto d...
The Fracking Song explainer.net 12 May 2011 | 02:35 pm
The best explainers are direct, concise and easy to understand. But investigative journalism is rarely any of those things, instead reflecting the messiness of real life. That’s why explanation is jus...
BDF's. suzanne-brown.blogspot.com 7 Jan 2012 | 04:23 pm
"Lily, a great dane lost his eyesight due to a rare disease. He became disheartened until he met Madison. They have been together for 5 years and Madison guides Lily by the leash and touches him to ma...
Rare Disease Day 2012 npcfund.org 29 Feb 2012 | 05:44 pm
February 29, 2012 is National Rare Disease Day. Even on leap year, we can make this day a special day! What isn’t so RARE about rare disease is the fact that it affects all of us. Although that sounds...
2012 Hospital Hill Run (discount) npcfund.org 7 Feb 2012 | 01:36 pm
The 39th Annual Hospital Hill Run presented by Price Chopper is taking place on June 2, 2012 and the Niemann-Pick Children’s Fund has a great opportunity to help promote awareness of Rare Disease! We...
L’influenza si prende di più su bus e tram irissalute.it 24 Jan 2011 | 05:24 am
Secondo un articolo pubblicato sul Journal BMC Infectious Diseases si è scoperto che è più facile contrarre l’influenza sul tram e nei bus. «Si tratta di un piccolo studio esplorativo – i cui risulta...
oh marfan syndrome~ srdcevsrdci.blogspot.com 28 Nov 2010 | 12:08 am
menariknya di hospital beberapa minggu lepas... met this patient with marfan syndrome! it's relatively a very rare disease to be found..even my doctor told me that that was his 2nd time met such patie...
Website improvements project for EURORDIS ymbra.com 10 Mar 2012 | 03:07 am
Consulting and development to improve existing web of this association EURORDIS is a non-governmental association dedicated to improving the quality of life of all people living with rare diseases in...
Rare Coin Collections on an Upswing rarecoincollectortoday.com 2 May 2012 | 10:28 am
According to a very recent article published in The Wall Street Journal titled, “Rare Coins Continued Upward Trend in 2011,” rare coins in high-grade condition performed very well in 2011. The article...
Epidermolysis Bullosa by Safiur Rahman (Jaskin Admin) jaskin.com 28 Mar 2010 | 12:39 pm
Epidermolysis Bullosa (EB) is a rare disease which causes the skin to be extremely fragile and vulnerable to blisters. The blisters may develop both on the outer skin and inside the body along the lin...
