Amyotrophic lateral sclerosis

Lokesh Wijesekera, P. Nigel Leigh

Orphanet Journal of Rare Diseases

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisMotor DysfunctionNeurological DisorderNeurology +4

Atypical hemolytic uremic syndrome

Chantal Loirat, Véronique Frémeaux‐Bacchi

Orphanet Journal of Rare Diseases

GlomerulonephritisHemodialysisUrologyComplement SystemAutoimmune Disease +13

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Marc Engelen, Stephan Kemp, Björn M. van Geel, +3

Orphanet Journal of Rare Diseases

McCune-Albright syndrome

C. E. Dumitrescu, Michael T. Collins

Orphanet Journal of Rare Diseases

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Marieke Biegstraaten, Reynir Arngrı́msson, Frédéric Barbey, +31

Orphanet Journal of Rare Diseases

Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

Ole B. Suhr, Teresa Coelho, Juan Buades, +10

Orphanet Journal of Rare Diseases

Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support

Matilda Anderson, Elizabeth Elliott, Yvonne Zurynski

Orphanet Journal of Rare Diseases

Clinical guidelines for the management of craniofacial fibrous dysplasia

E. J. Fitzgibbon, YR Chen, L. Lustig, +3

Orphanet Journal of Rare Diseases

Amelogenesis imperfecta

Orphanet Journal of Rare Diseases

TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

J.C. Kingswood, Guillaume Beaure d’Augères, Elena Belousova, +26

Orphanet Journal of Rare Diseases