Orphanet Journal of Rare Diseases | Home page

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Orphanet Journal of Rare Diseases

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1. RESEARCH

   Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?

   Talita Lemos Paulino, Marina Neto Rafael, Sonia Hix, David Carlos Shigueoka, Sergio Aron Ajzen, Cristiane Kochi, Fabíola Isabel Suano-Souza, Rosangela da Silva, Beatriz T. Costa-Carvalho and Roseli O. S. Sarni

   Published on: 4 August 2017
2. 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
3. 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
4. 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
5. 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

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