Orphanet Journal of Rare Diseases

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

POSITION STATEMENT

Graves’ orbitopathy as a rare disease in Europe: a European Group on Graves’ Orbitopathy (EUGOGO) position statement

P. Perros, L. Hegedüs, L. Bartalena, C. Marcocci, G. J. Kahaly, L. Baldeschi, M. Salvi, J. H. Lazarus, A. Eckstein, S. Pitz, K. Boboridis, P. Anagnostis, G. Ayvaz, A. Boschi, T. H. Brix, N. Currò…

Orphanet Journal of Rare Diseases 2017, 12:72 | Published on: 20 April 2017

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RESEARCH

Pulmonary hypertension in lymphangioleiomyomatosis: prevalence, severity and the role of carbon monoxide diffusion capacity as a screening method

Carolina S. G. Freitas, Bruno G. Baldi, Carlos Jardim, Mariana S. Araujo, Juliana Barbosa Sobral, Gláucia I. Heiden, Ronaldo A. Kairalla, Rogério Souza and Carlos R. R. Carvalho

Orphanet Journal of Rare Diseases 2017, 12:74 | Published on: 20 April 2017

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RESEARCH

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg…

Orphanet Journal of Rare Diseases 2017, 12:73 | Published on: 20 April 2017

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