Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

• Review

   

  

  Sneddon’s syndrome: a comprehensive review of the literature

  Wu S, Xu Z and Liang HOrphanet Journal of Rare Diseases 2014, 9:768 (31 December 2014)
• Research

   

  

  Severity score for hereditary hemorrhagic telangiectasia

  Latino GA, Kim H, Nelson J, Pawlikowska L, Young W, Faughnan ME and the BVMC HHT Investigator GroupOrphanet Journal of Rare Diseases 2014, 9:767 (29 December 2014)
• Research

   

  

  Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

  Quijada-Fraile P, O’Callaghan MM, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón AM, Muchart J, Málaga I et al.Orphanet Journal of Rare Diseases 2014, 9:217 (24 December 2014)
• Research

   

  

  Thymectomy for non-thymomatous myasthenia gravis: a propensity score matched study

  Barnett C, Katzberg HD, Keshavjee S and Bril VOrphanet Journal of Rare Diseases 2014, 9:214 (24 December 2014)
• Research

   

  

  Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study

  Sánchez-Guiu I, Antón AI, Padilla J, Velasco F, Lucia JF, Lozano M, Cid AR, Sevivas T et al.Orphanet Journal of Rare Diseases 2014, 9:213 (24 December 2014)
• 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)