Orphanet Journal of Rare Diseases

Titel Veröffentlichungsdatum Sprache Zitate
Fabry disease2010/01/01English765
Guideline of transthyretin-related hereditary amyloidosis for clinicians2013/01/01English487
Atypical hemolytic uremic syndrome2011/01/01English420
Suggested guidelines for the diagnosis and management of urea cycle disorders2012/01/01English342
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management2012/01/01English327
VACTERL/VATER Association2011/01/01English260
Management of adult patients with Langerhans cell histiocytosis: recommendations from an expert panel on behalf of Euro-Histio-Net2013/01/01English217
Xeroderma pigmentosum2011/01/01English217
The trisomy 18 syndrome2012/01/01English212
Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects2011/01/01English189
Dominant optic atrophy2012/01/01English166
Pricing and reimbursement of orphan drugs: the need for more transparency2011/01/01English163
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy2013/01/01English151
Uveitis- a rare disease often associated with systemic diseases and infections- a systematic review of 2619 patients2012/01/01English146
Nijmegen breakage syndrome (NBS)2012/01/01English145
Past, present and future of hemophilia: a narrative review2012/01/01English144
Dent's disease2010/01/01English144
A multicenter study on Leigh syndrome: disease course and predictors of survival2014/01/01English139
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management2012/01/01English136
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome2014/01/01English129
Congenital neutropenia: diagnosis, molecular bases and patient management2011/01/01English129
Disease and patient characteristics in NP-C patients: findings from an international disease registry2013/01/01English128
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum2013/01/01English119
Congenital Diaphragmatic Hernia2012/01/01English114
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management2014/01/01English111
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases2012/01/01English109
Machado-Joseph Disease: from first descriptions to new perspectives2011/01/01English109
Paying for the Orphan Drug System: break or bend? Is it time for a new evaluation system for payers in Europe to take account of new rare disease treatments?2012/01/01English108
Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey2015/01/01English107
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies2014/01/01English104