Orphanet Journal of Rare Diseases

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

RESEARCH

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

Roland Stengl, András Bors, Bence Ágg, Miklós Pólos, Gabor Matyas, Mária Judit Molnár, Bálint Fekete, Dóra Csabán, Hajnalka Andrikovics, Béla Merkely, Tamás Radovits, Zoltán Szabolcs and Kálmán Benke

Orphanet Journal of Rare Diseases 2020, 15:290 | Published on: 15 October 2020

Full Text | PDF

RESEARCH

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Konrad Bork, Thomas Machnig, Karin Wulff, Guenther Witzke, Subhransu Prusty and Jochen Hardt

Orphanet Journal of Rare Diseases 2020, 15:289 | Published on: 15 October 2020

Full Text | PDF

RESEARCH

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

Tomàs Pinós, Antoni L. Andreu, Claudio Bruno, Georgios M. Hadjigeorgiou, Ronald G. Haller, Pascal Laforêt, Alejandro Lucía, Miguel A. Martín, Andrea Martinuzzi, Carmen Navarro, Piraye Oflazer, Jean Pouget, Ros Quinlivan, Sabrina Sacconi, Renata S. Scalco, Antonio Toscano…

Orphanet Journal of Rare Diseases 2020, 15:187 | Published on: 15 October 2020

Full Text | PDF

Follow BMC on:

For further information or enquiries please use our contact page details.

BMC respects your privacy and does not disclose, sell or rent your personal information to any non-affliated third parties with your consent. Privacy policy.

BioMed Central Ltd

The Campus, 4 Crinan Street,

London, N1 9XW,

United Kingdom