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

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

Quijada-Fraile P, O’Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón A, Muchart J, Málaga I, Pardo R, García-Gonzalez P, Jou C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin M, Ormazabal A, Pineda M, García-Silva MT, Artuch R

Orphanet Journal of Rare Diseases 2014, 9 :3 (24 December 2014)

Abstract | Provisional PDF

Research

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

Barnett C, Katzberg H, Keshavjee S, Bril V

Orphanet Journal of Rare Diseases 2014, 9 :2 (24 December 2014)

Abstract | Provisional PDF

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 A, Sevivas T, Lopez-Fernandez MF, Vicente V, González-Manchón C, Rivera J, Lozano ML

Orphanet Journal of Rare Diseases 2014, 9 :1 (24 December 2014)

Abstract | Provisional PDF

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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, 9:3 (24 December 2014)
Research

Thymectomy for non-thymomatous myasthenia gravis: a propensity score matched study
Barnett C, Katzberg H, Keshavjee S and Bril VOrphanet Journal of Rare Diseases 2014, 9:2 (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, 9:1 (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)
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)
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