Orphanet Journal of Rare Diseases

Amyotrophic lateral sclerosis

Lokesh Wijesekera, P. Nigel Leigh · 2009 · 931 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Motor Dysfunction +6

Atypical hemolytic uremic syndrome

Chantal Loirat, Véronique Frémeaux‐Bacchi · 2011 · 649 citations · Full text

Glomerulonephritis, Hemodialysis, Urology +15

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

Marc Engelen, Stephan Kemp, Björn M. van Geel et al. · 2012 · 555 citations · Full text

McCune-Albright syndrome

C. E. Dumitrescu, Michael T. Collins · 2008 · 438 citations · Full text

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 et al. · 2015 · 335 citations · Full text