Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

RESEARCH

Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population

Andreea Jercan, Amalia Ene, Ruxandra Jurcut, Mirela Draghici, Sorina Badelita, Mihaela Dragomir, Camelia Dobrea, Monica Popescu, Dumitru Jardan, Emanuel Stoica, Speranta Iacob, Ionela Codita, Claudiu Stan and Daniel Coriu

Orphanet Journal of Rare Diseases 2020, 15:34 | Published on: 30 January 2020

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LETTER TO THE EDITOR

Towards European harmonisation of healthcare for patients with rare immune disorders: outcome from the ERN RITA registries survey

Riccardo Papa, Andrew Cant, Christoph Klein, Mark A. Little, Nico M. Wulffraat, Marco Gattorno and Nicolino Ruperto

Orphanet Journal of Rare Diseases 2020, 15:33 | Published on: 30 January 2020

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RESEARCH

Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results

Ahra Cho, Jose Ronaldo Lima de Carvalho, Akemi J. Tanaka, Ruben Jauregui, Sarah R. Levi, Alexander G. Bassuk, Vinit B. Mahajan and Stephen H. Tsang

Orphanet Journal of Rare Diseases 2020, 15:32 | Published on: 30 January 2020

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