Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

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1. REVIEW

   Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

   Margaret M. McGovern, Ruzan Avetisyan, Bernd-Jan Sanson and Olivier Lidove

   Published on: 23 February 2017
2. RESEARCH

   Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

   Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu and Rahman Jamal

   Published on: 21 February 2017
3. RESEARCH

   Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial

   Subha V. Raman, Kan N. Hor, Wojciech Mazur, Xin He, John T. Kissel, Suzanne Smart, Beth McCarthy, Sharon L. Roble and Linda H. Cripe

   Published on: 20 February 2017
4. RESEARCH

   A new framework for evaluating the health impacts of treatment for Gaucher disease type 1

   Michael L. Ganz, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed and Neal Weinreb

   Published on: 20 February 2017
5. RESEARCH

   The RENAPE observational registry: rationale and framework of the rare peritoneal tumors French patient registry

   L. Villeneuve, G. Passot, O. Glehen, S. Isaac, F. Bibeau, P. Rousset and F. N. Gilly

   Published on: 17 February 2017

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