Latest Article Alert from 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  

A double-blind, randomized, placebo-controlled trial studying the effects of Saccharomyces boulardii on the gastrointestinal tolerability, safety, and pharmacokinetics of miglustat

Remenova T, Morand O, Amato D, Chadha-Boreham H, Tsurutani S, Marquardt T

Orphanet Journal of Rare Diseases 2015, 10 :81 (19 June 2015)

Abstract | Provisional PDF

Research  

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

Bosch AM, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Benmedjahed K, Regnault A

Orphanet Journal of Rare Diseases 2015, 10 :80 (18 June 2015)

Abstract | Provisional PDF

Research  

Clinical and biochemical characterization of four patients with mutations in ECHS1

Ferdinandusse S, Friederich M, Burlina A, Ruiter J, Coughlin C, Dishop M, Gallagher R, Bedoyan J, Vaz F, Waterham H, Gowan K, Chatfield K, Bloom K, Bennett M, Elpeleg O, Van Hove J, Wanders R

Orphanet Journal of Rare Diseases 2015, 10 :79 (18 June 2015)

Abstract | Full Text | PDF