jueves, 29 de junio de 2017

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page



New Articles For BioMed Central:

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

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

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

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
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