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.

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, Clementi E

Orphanet Journal of Rare Diseases 2014, 9 :208 (12 December 2014)

Abstract | Provisional PDF

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 M, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C, Gérard M, Roze E, Jacquette A, Charles P, de Baracé C, Drouin-Garraud V, Van Kien P, Cormier-Daire V, Mayer M, Ogier H, Brice A, Seta N, Héron D

Orphanet Journal of Rare Diseases 2014, 9 :207 (11 December 2014)

Abstract | Provisional PDF

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, Fouquet V, Jacquier C, Lemelle J, Lavrand F, Becmeur F, Petit T, Poli-Merol M, Elbaz F, Merrot T, Michel J, Hossein A, Lopez M, Habonimana E, Pelatan C, De Lagausie P, Buisson P, de Vries P, Gaudin J, Lardy H, Borderon C, Borgnon J, Jaby O

Orphanet Journal of Rare Diseases 2014, 9 :206 (11 December 2014)

Abstract | Full Text | PDF