Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

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

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1. RESEARCH

   Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia

   Charlotte Cuerq, Lioara Restier, Jocelyne Drai, Emilie Blond, Adeline Roux, Sybil Charriere, Marie-Caroline Michalski, Mathilde Di Filippo, Emile Levy, Alain Lachaux and Noël Peretti

   Published on: 12 August 2016
2. RESEARCH

   Clinical and endocrine characteristics and genetic analysis of Korean children with McCune–Albright syndrome: a retrospective cohort study

   Eun-Kyung Cho, Jinsup Kim, Aram Yang, Chang-Seok Ki, Ji-Eun Lee, Sung Yoon Cho and Dong-Kyu Jin

   Published on: 9 August 2016
3. LETTER TO THE EDITOR

   Phenylketonuria screening in the Republic of Macedonia

   Mirjana Kocova and Violeta Anastasovska

   Published on: 5 August 2016
4. RESEARCH

   Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

   Albert Busch, Sabine Hoffjan, Frauke Bergmann, Birgit Hartung, Helena Jung, Daniela Hanel, Andeas Tzschach, Janos Kadar, Yskert von Kodolitsch, Christoph-Thomas Germer, Heiner Trobisch, Erwin Strasser and René Wildenauer

   Published on: 3 August 2016
5. LETTER TO THE EDITOR

   Diffuse reduction of cerebral grey matter volumes in Erdheim-Chester disease

   Eli L. Diamond, Vaios Hatzoglou, Sneha Patel, Omar Abdel-Wahab, Raajit Rampal, David M. Hyman, Andrei I. Holodny and Ashish Raj

   Published on: 2 August 2016

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