Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

The following new articles have just been published in Orphanet Journal of Rare Diseases

OJRD's 10th Anniversary

Please visit our special 10th Anniversary/ Rare Disease Day site, for new publications, blogs, a quiz, and "OJRD Classics", a look at the journal and its advocacy for the voices of rare diseases over the last decade.

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Research  

Pharmaceutical expenditure on drugs for rare diseases in Canada: a historical (2007–13) and prospective (2014–18) MIDAS sales data analysis

Divino V, DeKoven M, Kleinrock M, Wade R, Kim T, Kaura S

Orphanet Journal of Rare Diseases 2016, 11 :68 (21 May 2016)

Abstract | Full Text | PDF | PubMed

Research  

Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate

Mori M, Dictor M, Brodszki N, López-Gutiérrez J, Beato M, Erjefält J, Eklund E

Orphanet Journal of Rare Diseases 2016, 11 :67 (18 May 2016)

Abstract | Full Text | PDF | PubMed

Research  

Invasive meningococcal disease in three siblings with hereditary deficiency of the 8 th component of complement: evidence for the importance of an early diagnosis

Dellepiane R, Dell’Era L, Pavesi P, Macor P, Giordano M, De Maso L, Pietrogrande M, Cugno M

Orphanet Journal of Rare Diseases 2016, 11 :64 (17 May 2016)

Abstract | Full Text | PDF | PubMed

Research  

Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study

Peng S, Hwu W, Lee N, Tsai F, Tsai W, Chien Y

Orphanet Journal of Rare Diseases 2016, 11 :63 (17 May 2016)

Abstract | Full Text | PDF | PubMed

Research  

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

Maduro V, Pusey B, Cherukuri P, Atkins P, du Souich C, Rupps R, Limbos M, Adams D, Bhatt S, Eydoux P, Links A, Lehman A, Malicdan M, Mason C, Morimoto M, Mullikin J, Sear A, Van Karnebeek C, Stankiewicz P, Gahl W, Toro C, Boerkoel C

Orphanet Journal of Rare Diseases 2016, 11 :62 (14 May 2016)

Abstract | Full Text | PDF | PubMed

Research  

Novel treatments for rare rheumatologic disorders: analysis of the impact of 30 years of the US orphan drug act

Lutz T, Lampert A, Hoffmann G, Ries M

Orphanet Journal of Rare Diseases 2016, 11 :60 (12 May 2016)

Abstract | Full Text | PDF | PubMed

Review  

Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment

Minos E, Barry R, Southworth S, Folkard A, Murray P, Duker J, Keane P, Denniston A

Orphanet Journal of Rare Diseases 2016, 11 :61 (12 May 2016)

Abstract | Full Text | PDF | PubMed

Research  

Impact of orphan drugs on Latvian budget

Logviss K, Krievins D, Purvina S

Orphanet Journal of Rare Diseases 2016, 11 :59 (11 May 2016)

Abstract | Full Text | PDF | PubMed