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

OJRD's 10th Anniversary

Please visit our special 10th Anniversary/ Rare Disease Day site, for new publications, blogs, a quiz, and "OJRD Classics", a look at the journal and its advocacy for the voices of rare diseases over the last decade.

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1. RESEARCH

   Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children

   A. Soni-Jaiswal, J. Mercer, S. A. Jones, I. A. Bruce and P. Callery

   Published on: 12 July 2016
2. RESEARCH

   Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

   Aisha Al-Shamsi, Jozef L. Hertecant, Abdul-Kader Souid and Fatma A. Al-Jasmi

   Published on: 8 July 2016
3. RESEARCH

   Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation

   Mona Schmidt, Sandra Breyer, Ulrike Löbel, Sinef Yarar, Ralf Stücker, Kurt Ullrich, Ingo Müller and Nicole Muschol

   Published on: 8 July 2016
4. RESEARCH

   MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

   C. Fiorillo, G. Astrea, M. Savarese, D. Cassandrini, G. Brisca, F. Trucco, M. Pedemonte, R. Trovato, L. Ruggiero, L. Vercelli, A. D’Amico, G. Tasca, M. Pane, M. Fanin, L. Bello, P. Broda…

   Published on: 7 July 2016
5. RESEARCH

   FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset

   Haiming Yuan, Linhuan Huang, Xizi Hu, Qian Li, Xiaofang Sun, Yingjun Xie, Shu Kong and Xiaoman Wang

   Published on: 2 July 2016

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Orphanet Journal of Rare Diseases | Home page