New Articles From Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases RESEARCH Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton and Georgia Xiromerisiou Orphanet Journal of Rare Diseases 2017, 12:172 | Published on: 2 November 2017 Full Text | PDF MEETING ABSTRACTS Abstracts from the First European Meeting for ATTR Amyloidosis for Doctors and Patients Orphanet Journal of Rare Diseases 2017, 12:165 | Published on: 2 November 2017 Full Text | PDF POSITION STATEMENT Measuring what matters to rare disease patients – reflections on the work by the IRDiRC taskforce on patient-centered outcome measures Thomas Morel and Stefan J. Cano Orphanet Journal of Rare Diseases 2017, 12:171 | Published on: 2 November 2017 Full Text | PDF

For further information or enquiries please contact the Support Team at:info@biomedcentral.com BioMed Central Ltd 236 Gray's Inn Road, London, WC1X 8HB, United Kingdom Privacy Policy

© 2017 BioMed Central Ltd unless otherwise stated. Part of Springer Nature.