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Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study.
Orphanet J Rare Dis
December 2022
Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015, Paris, France.
Background: Preliminary data suggest that COVID-19 pandemic has generated a switch from face-to-face to remote care for individuals with chronic diseases. However, few data are available for rare and undiagnosed diseases (RUDs). We aimed to assess the impact of the COVID-19 pandemic on the activities of the French reference network for RUDs in 2020.
View Article and Find Full Text PDFRud syndrome with focal cortical dysplasia: a case report.
Brain Dev
September 2011
Department of Neurological Sciences, Institute of Neurology, University of Bologna, Via Ugo Foscolo 7, 40131 Bologna, Italy.
We report a female patient with ichthyosis, epilepsy, mental retardation, hypergonadotrophic hypogonadism, polyneuropathy, and cranial dysmorphisms. This clinical picture may satisfy the main diagnostic criteria that characterize Rud syndrome (RS), a rare neurocutaneous disease. The patient underwent extensive clinical evaluation, neurophysiological studies (wakefulness and sleep EEG, EMG), dermatological and endocrinological evaluation and neuroimaging study (3 Tesla brain MRI).
View Article and Find Full Text PDF[Rud syndrome].
Nihon Rinsho
September 2006
Department of Pediatrics, Nagasaki University School of Medicine.
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