CIENCIASMEDICASNEWS: Orphanet Journal of Rare Diseases

miércoles, 2 de agosto de 2017

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

Articles

Recent articles RSS

LETTER TO THE EDITOR
A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry
Kathryn R. Napier, Megan Tones, Chloe Simons, Helen Heussler, Adam A. Hunter, Meagan Cross and Matthew I. Bellgard
Published on: 1 August 2017
LETTER TO THE EDITOR
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function
Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom and Matthis Synofzik
Published on: 1 August 2017
RESEARCH
Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade’s experience
Vishal Saddi, Sean Beggs, Bruce Bennetts, Joanne Harrison, Neil Hime, Nitin Kapur, Jill Lipsett, Lawrence M. Nogee, Amy Phu, Sadasivam Suresh, André Schultz, Hiran Selvadurai, Stephanie Sherrard, Roxanne Strachan, Julian Vyas, Yvonne Zurynski…
Published on: 25 July 2017
RESEARCH
Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders
Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan and Rani H. Singh
Published on: 19 July 2017
RESEARCH
Multifocal gastric adenocarcinoma in a patient with LRBA deficiency
Nina Bratanič, Jernej Kovač, Katka Pohar, Katarina Trebušak Podkrajšek, Alojz Ihan, Tadej Battelino and Magdalena Avbelj Stefanija
Published on: 18 July 2017