Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

The following new article has just been published in Orphanet Journal of Rare Diseases

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1. RESEARCH

   Early pancreatic volume reduction on CT predicts relapse in patients with type 1 autoimmune pancreatitis treated with steroids

   Yoshinori Ohno, Teru Kumagi, Tomoyuki Yokota, Nobuaki Azemoto, Yoshinori Tanaka, Kazuhiro Tange, Nobu Inada, Hideki Miyata, Yoshiki Imamura, Mitsuhito Koizumi, Taira Kuroda and Yoichi Hiasa

   Published on: 28 July 2016
2. RESEARCH

   Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis

   Rosa Sousa, Cristina Gonçalves, Isabel Couto Guerra, Emília Costa, Ana Fernandes, Maria do Bom Sucesso, Joana Azevedo, Alfredo Rodriguez, Rocio Rius, Carlos Seabra, Fátima Ferreira, Letícia Ribeiro, Anabela Ferrão, Sérgio Castedo, Esmeralda Cleto, Jorge Coutinho…

   Published on: 25 July 2016
3. LETTER TO THE EDITOR

   Copy number variants and rasopathies: germline KRASduplication in a patient with syndrome including pigmentation abnormalities

   Brigitte Gilbert-Dussardier, Audrey Briand-Suleau, Ingrid Laurendeau, Frédéric Bilan, Hélène Cavé, Alain Verloes, Michel Vidaud, Dominique Vidaud and Eric Pasmant

   Published on: 22 July 2016
4. RESEARCH

   Brain morphometry in Pontocerebellar Hypoplasia type 2

   Kaspar Ekert, Samuel Groeschel, Iciar Sánchez-Albisua, Saskia Frölich, Andrea Dieckmann, Corinna Engel and Ingeborg Krägeloh-Mann

   Published on: 19 July 2016
5. RESEARCH

   Analysis of voice quality in patients with late-onset Pompe disease

   Krzysztof Szklanny, Ryszard Gubrynowicz, Katarzyna Iwanicka-Pronicka and Anna Tylki-Szymańska

   Published on: 15 July 2016

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