A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region

by Claudia Ching Yan Chung, Yvette Nga Chung Ng, Ritu Jain, Brian Hon Yin Chung
Published 2021-03-01

La transitional care di adolescenti con malattie rare

by Annamaria Perino, Nicole Braida
Published 2016-10-01

Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia

by Dalibor Stanimirovic, Eva Murko, Tadej Battelino, Urh Groselj
Published 2019-07-01

Wandering spleen: A rare entity and a diagnostic dilemma

by Ravinder Kaur, Ashish Dua, Ashwani Dalal
Published 2020-07-01

Congenital Rhabdomyosarcoma: a different clinical presentation in two cases

by Ida Russo, Virginia Di Paolo, Carmelo Gurnari, Angela Mastronuzzi, Francesca Del Bufalo, Pier Luigi Di Paolo, Angela Di Giannatale, Renata Boldrini, Giuseppe Maria Milano
Published 2018-05-01

Unmasked: an insight into three patients’ rare disease experiences during the COVID-19 pandemic

by Catriona Chaplin
Published 2021-02-01

Case of Lingual Cysticercosis and Review of Literature

by Arvind Kinger, Mallika Kawatra, Tej Singh Chaudhary
Published 2012-01-01

Trajetórias Terapêuticas Familiares: doenças raras hereditárias como sofrimento de longa duração

by Waleska de Araújo Aureliano

The Link between Gaucher Disease and Parkinson’s Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism

by Rossella Indellicato, Marco Trinchera
Published 2019-07-01

A New Case of Schnitzler Syndrome in Bulgaria

by Kirilova-Doneva M., Kamusheva M., Donev S., Popova I.
Published 2018-12-01

Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

by Xuefeng Li, Xiangyu Zhang, Shu Zhang, Zijuan Lu, Jianyong Zhang, Jincheng Zhou, Bingzhe Li, Li Ou
Published 2021-04-01

Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I

by Jon Gil-Martínez, Iratxe Macias, Luca Unione, Ganeko Bernardo-Seisdedos, Fernando Lopitz-Otsoa, David Fernandez-Ramos, Ana Lain, Arantza Sanz-Parra, José M Mato, Oscar Millet
Published 2021-02-01

Experience of health care at a reference centre as reported by patients and parents of children with rare conditions

by Monica Hytiris, Daisy Johnston, Shannon Mullen, Arlene Smyth, Elizabeth Dougan, Martina Rodie, S. Faisal Ahmed
Published 2021-02-01

Neonatal inflammatory skin and bowel disease type 2: a very rare disease associated with EGFR mutation

by Mariana Lemos, Joana S. Gonçalves, Cátia R. Correia, Ana Teresa Maria
Published 2020-12-01

Under-utilisation of reproducible, child appropriate or patient reported outcome measures in childhood uveitis interventional research

by Ameenat L. Solebo, Robert J. Barry, Pearse A. Keane, Jugnoo S. Rahi, Alastair K. Denniston
Published 2019-06-01

Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy

by Shan He, Zhuang Tian, Hongzhi Guan, Jian Li, Quan Fang, Shuyang Zhang
Published 2019-11-01

Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings

by Berrin Monteleone, Keith Hyland
Published 2020-01-01

Differential methylation as a diagnostic biomarker of rare renal diseases: a systematic review

by Katie Kerr, Helen McAneney, Cheryl Flanagan, Alexander P. Maxwell, Amy Jayne McKnight
Published 2019-08-01

The Endometrial Transcription Landscape of MRKH Syndrome

by Thomas Hentrich, André Koch, Nico Weber, Nico Weber, Alexander Kilzheimer, Ana Maia, Simone Burkhardt, Katharina Rall, Katharina Rall, Nicolas Casadei, Nicolas Casadei, Oliver Kohlbacher, Oliver Kohlbacher, Oliver Kohlbacher, Oliver Kohlbacher, Olaf Riess, Olaf Riess, Julia Maria Schulze-Hentrich, Sara Yvonne Brucker, Sara Yvonne Brucker
Published 2020-09-01

Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren Syndrome: a randomized controlled trial

by Behrouz Kassai, Philippe Bouyé, Brigitte Gilbert-Dussardier, François Godart, Jean-Benoit Thambo, Massimiliano Rossi, Pierre Cochat, Pierre Chirossel, Stephane Luong, André Serusclat, Isabelle Canterino, Catherine Mercier, Muriel Rabilloud, Christine Pivot, Fabrice Pirot, Tiphanie Ginhoux, Stéphanie Coopman, Guillaume Grenet, François Gueyffier, Sylvie Di-Fillippo, Aurélia Bertholet-Thomas
Published 2019-05-01