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

   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
2. RESEARCH

   Health survey of adults with hereditary spastic paraparesis compared to population study controls

   Krister W. Fjermestad, Øivind J. Kanavin, Eva E. Næss, Lise B. Hoxmark and Grete Hummelvoll

   Published on: 13 July 2016
3. 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
4. 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
5. 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

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