Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases LETTER TO THE EDITOR Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker Ángela López-Sainz, Vicente Climent, Tomas Ripoll-Vera, Maria Angeles Espinosa, Roberto Barriales-Villa, Marina Navarro, Javier Limeres, Diana Domingo, David C. Kasper and Pablo Garcia-Pavia Orphanet Journal of Rare Diseases 2019, 14:170 | Published on: 8 July 2019 Full Text | PDF POSITION STATEMENT Position statement on access to care in rare liver diseases: advancements of the European reference network (ERN) RARE-LIVER Lucas H. P. Bernts, David E. J. Jones, Marleen M. Kaatee, Ansgar W. Lohse, Christoph Schramm, Ekkehard Sturm and Joost P. H. Drenth Orphanet Journal of Rare Diseases 2019, 14:169 | Published on: 8 July 2019 Full Text | PDF RESEARCH Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data Elsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, Nicole Muschol, Cara O’Neill and Suresh Vijayaraghavan Orphanet Journal of Rare Diseases 2019, 14:168 | Published on: 8 July 2019 Full Text | PDF REVIEW Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review Xiaomu Kong, Lingding Xie, Haiqing Zhu, Lulu Song, Xiaoyan Xing, Wenying Yang and Xiaoping Chen Orphanet Journal of Rare Diseases 2019, 14:171 | Published on: 8 July 2019 Full Text | PDF

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