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Orphanet Journal of Rare Diseases|October 14, 2015
Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrinGiampiero Palladino, Stefano Loizzo, Andrea Fortuna, et al.
Orphanet Journal of Rare Diseases|November 7, 2014
Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implicationJoo Hyun Park, Nayoung K D Kim, Ah Reum Kim, et al.
Orphanet Journal of Rare Diseases|September 20, 2014
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic traffickingSylvia Stockler, Silvia Corvera, David Lambright, et al.
Orphanet Journal of Rare Diseases|September 20, 2014
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 yearsHelena Jahnova, Lenka Dvorakova, Hana Vlaskova, et al.
Orphanet Journal of Rare Diseases|September 19, 2015
Meier-Gorlin syndromeSonja A de Munnik, Elisabeth H Hoefsloot, Jolt Roukema, et al.
Orphanet Journal of Rare Diseases|September 19, 2015
Self-administered version of the Fabry-associated pain questionnaire for adult patientsBarbara Magg, Christoph Riegler, Silke Wiedmann, et al.
Orphanet Journal of Rare Diseases|October 17, 2015
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutationsSandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, et al.
Orphanet Journal of Rare Diseases|December 11, 2014
Bullous pemphigoid in infants: characteristics, diagnosis and treatmentAgnes Schwieger-Briel, Cornelia Moellmann, Birgit Mattulat, et al.
Orphanet Journal of Rare Diseases|December 11, 2014
The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndromeSara Sheikhzadeh, Julie De Backer, Neda Rahimian Gorgan, et al.
Orphanet Journal of Rare Diseases|February 28, 2016
The availability and affordability of orphan drugs for rare diseases in ChinaShiwei Gong, Yingxiao Wang, Xiaoyun Pan, et al.
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