Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases RESEARCH Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex Jennifer Brun, Christine Chiaverini, Caroline Devos, Stéphanie Leclerc-Mercier, Juliette Mazereeuw, Emmanuelle Bourrat, Annabel Maruani, Stéphanie Mallet, Claire Abasq, Alice Phan, Pierre Vabres, Ludovic Martin, Christine Bodemer, Sylvie Lagrange and Jean-Philippe Lacour Orphanet Journal of Rare Diseases 2017, 12:119 | Published on: 28 June 2017 Full Text | PDF RESEARCH Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome Céline Bar, Gwenaelle Diene, Catherine Molinas, Eric Bieth, Charlotte Casper and Maithé Tauber Orphanet Journal of Rare Diseases 2017, 12:118 | Published on: 28 June 2017 Full Text | PDF RESEARCH Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky… Orphanet Journal of Rare Diseases 2017, 12:121 | Published on: 28 June 2017 Full Text | PDF RESEARCH Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics Francis Aguisanda, Charles D. Yeh, Catherine Z. Chen, Rong Li, Jeanette Beers, Jizhong Zou, Natasha Thorne and Wei Zheng Orphanet Journal of Rare Diseases 2017, 12:120 | Published on: 28 June 2017 Full Text | PDF

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