Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

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

For articles using Author Version-first publication you will see a provisional PDF corresponding to the accepted manuscript. In these instances, the fully formatted Final Version PDF and full text (HTML) versions will follow in due course.

Research  

Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response

Wang L, Kantovitz K, Cullinane A, Nociti F, Foster B, Roney J, Tran A, Introne W, Somerman M

Orphanet Journal of Rare Diseases 2014, 9 :212 (21 December 2014)

Abstract | Provisional PDF | PubMed

Research  

Oxidative stress and mitochondrial dysfunction in Kindler syndrome

Zapatero-Solana E, García-Giménez J, Guerrero-Aspizua S, García M, Toll A, Baselga E, Durán-Moreno M, Markovic J, García-Verdugo J, Conti CJ, Has C, Larcher F, Pallardó FV, del Rio M

Orphanet Journal of Rare Diseases 2014, 9 :211 (21 December 2014)

Abstract | Provisional PDF

• Research

   

  

  Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response

  Wang L, Kantovitz KR, Cullinane AR, Nociti FH, Foster BL, Roney JC, Tran AB, Introne WJ et al.Orphanet Journal of Rare Diseases 2014, 9:212 (21 December 2014)
• Research

   

  

  Oxidative stress and mitochondrial dysfunction in Kindler syndrome

  Zapatero-Solana E, García-Giménez JL, Guerrero-Aspizua S, García M, Toll A, Baselga E, Durán-Moreno M, Markovic J et al.Orphanet Journal of Rare Diseases 2014, 9:211 (21 December 2014)
• Research

   

  

  Relapsing polychondritis: clinical presentations, disease activity and outcomes

  Sharma A, Law AD, Bambery P, Sagar V, Wanchu A, Dhir V, Vijayvergiya R, Sharma K et al.Orphanet Journal of Rare Diseases 2014, 9:198 (20 December 2014)
• Research

   

  

  Ventricular septal defect

  Spicer DE, Hsu HH, Co-Vu J, Anderson RH and Fricker FJOrphanet Journal of Rare Diseases 2014, 9:144 (19 December 2014)
• Research

   

  

  Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany

  Schreiber-Katz O, Klug C, Thiele S, Schorling E, Zowe J, Reilich P, Nagels KH and Walter MCOrphanet Journal of Rare Diseases 2014, 9:210 (18 December 2014)
• Research

   

  

  An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A

  Attarian S, Vallat JM, Magy L, Funalot B, Gonnaud PM, Lacour A, Péréon Y, Dubourg O et al.Orphanet Journal of Rare Diseases 2014, 9:199 (18 December 2014)
• Research

   

  

  Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

  Baetens D, Mladenov W, Delle Chiaie B, Menten B, Desloovere A, Iotova V, Callewaert B, Van Laecke E et al.Orphanet Journal of Rare Diseases 2014, 9:209 (14 December 2014)
• Letter to the Editor

   

  

  Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen

  Pozzi M, Piccinini L, Gallo M, Motta F, Radice S and Clementi EOrphanet Journal of Rare Diseases 2014, 9:208 (12 December 2014)
• Research

   

  

  29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

  Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C et al.Orphanet Journal of Rare Diseases 2014, 9:207 (11 December 2014)
• Research

   

  

  Results from the French National Esophageal Atresia register: one-year outcome

  Schneider A, Blanc S, Bonnard A, Khen-Dunlop N, Auber F, Breton A, Podevin G, Sfeir R et al.Orphanet Journal of Rare Diseases 2014, 9:206 (11 December 2014)