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Orphanet Journal of Rare Diseases|September 14, 2022
Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scaleRosa Angela Fabio, Liliana Chiarini, Virginia Canegallo
Orphanet Journal of Rare Diseases|September 15, 2022
Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathySavas Dedeoglu, Elif Dede, Funda Oztunc, et al.
Orphanet Journal of Rare Diseases|September 29, 2022
Iranian future healthcare professionals' knowledge and opinions about rare diseases: cross-sectional studyReza Jahanshahi, Amirreza Nasirzadeh, Mahan Farzan, et al.
Orphanet Journal of Rare Diseases|October 4, 2022
Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophyF Eichler, Caroline Sevin, M Barth, et al.
Orphanet Journal of Rare Diseases|September 2, 2022
Health insurance literacy and health services access barriers in Niemann-Pick disease: the patient and caregiver voiceGeorge A Diaz, Joslyn Crowe, Justin Hopkin
Orphanet Journal of Rare Diseases|September 2, 2022
Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scaleAnnie Ting Gee Chiu, Sheila Suet Na Wong, Naomi Wing Tung Wong, et al.
Orphanet Journal of Rare Diseases|November 4, 2022
A new proof of evidence of cysteamine quantification for therapeutic drug monitoring in patients with cystinosisMartina Franzin, Silvia Rossetto, Rachele Ruoso, et al.
Orphanet Journal of Rare Diseases|November 4, 2022
The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of IrelandGeorgina Morton, Sophie Thomas, Pat Roberts, et al.
Orphanet Journal of Rare Diseases|December 2, 2023
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trialMelissa P Wasserstein, Robin Lachmann, Carla Hollak, et al.
Orphanet Journal of Rare Diseases|December 1, 2023
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spineWenyan Zhang, Ziming Yao, Ruolan Guo, et al.
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