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Orphanet Journal of Rare Diseases|August 12, 2021
Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, et al.
Orphanet Journal of Rare Diseases|August 5, 2021
Estimating the broader fiscal consequences of acute hepatic porphyria (AHP) with recurrent attacks in Belgium using a public economic analytic frameworkMark P Connolly, Nikos Kotsopoulos, Sebastian Vermeersch, et al.
Orphanet Journal of Rare Diseases|August 7, 2021
Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi studyBianca M L Stelten, Maria Teresa Dotti, Aad Verrips, et al.
Orphanet Journal of Rare Diseases|August 7, 2021
A qualitative study of the impacts of having an infant or young child with achondroplasia on parent well-beingKathryn M Pfeiffer, Meryl Brod, Alden Smith, et al.
Orphanet Journal of Rare Diseases|February 14, 2023
Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative reviewGaetano Giuffrida, Uros Markovic, Annalisa Condorelli, et al.
Orphanet Journal of Rare Diseases|March 6, 2023
Diagnosing rare diseases and mental well-being: a family's storyZheqing Zhang
Orphanet Journal of Rare Diseases|March 7, 2023
Assessing the value of bypassing agent therapy used prophylactic versus on-demand, during immune tolerance induction for treatment of inhibitors: a retrospective chart reviewGeorge Morgan, Emily Back, Doug Rosa, et al.
Orphanet Journal of Rare Diseases|March 10, 2023
Increased incidence of adult-onset Still's disease in association with COVID-19 vaccination and SARS-CoV-2 infectionMaxime N Gottschalk, Max Heiland, Susanne Nahles, et al.
Orphanet Journal of Rare Diseases|November 24, 2016
Symmetrical acrokeratoderma: a case series in Indian patientsKeshavamurthy Vinay, Gitesh U Sawatkar, Uma N Saikia, et al.
Orphanet Journal of Rare Diseases|November 30, 2016
Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasiaLydia Forestier-Zhang, Laura Watts, Alison Turner, et al.
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