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Orphanet Journal of Rare Diseases|May 18, 2019
Linear scleroderma "en coup de sabre" with extensive brain involvement-Clinicopathologic correlations and response to anti-Interleukin-6 therapyCynthia M Magro, Pierre Halteh, Luke C Olson, et al.
Orphanet Journal of Rare Diseases|April 27, 2019
Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiencyTímea Almási, Lin T Guey, Christine Lukacs, et al.
Orphanet Journal of Rare Diseases|May 2, 2019
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus reportStéphane Auvin, John J Bissler, Vincent Cottin, et al.
Orphanet Journal of Rare Diseases|April 25, 2018
Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1Laura Sellmer, Said Farschtschi, Marco Marangoni, et al.
Orphanet Journal of Rare Diseases|April 25, 2018
Patient reported outcome measures in rare diseases: a narrative reviewAnita Slade, Fatima Isa, Derek Kyte, et al.
Orphanet Journal of Rare Diseases|April 29, 2018
European principles of inhibitor management in patients with haemophiliaP L F Giangrande, C Hermans, B O'Mahony, et al.
Orphanet Journal of Rare Diseases|August 11, 2018
Craniofacial and oral alterations in patients with Neurofibromatosis 1Vivian Visnapuu, Sirkku Peltonen, Lotta Alivuotila, et al.
Orphanet Journal of Rare Diseases|May 23, 2018
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiencyElise Vantroys, Joél Smet, Arnaud V Vanlander, et al.
Orphanet Journal of Rare Diseases|July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophyHugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
Orphanet Journal of Rare Diseases|July 19, 2018
Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance studyDaniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, et al.
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