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Orphanet Journal of Rare Diseases|July 10, 2020
Factors associated with refractory autoimmune necrotizing myopathy with anti-signal recognition particle antibodiesYawen Zhao, Wei Zhang, Yilin Liu, et al.
Orphanet Journal of Rare Diseases|July 4, 2020
The macrophage activation marker soluble CD163 is elevated and associated with liver disease phenotype in patients with Wilson's diseaseEmilie Glavind, Daniel N Gotthardt, Jan Pfeiffenberger, et al.
Orphanet Journal of Rare Diseases|July 5, 2020
Creation and validation of a bladder dysfunction symptom score for HTLV-1-associated myelopathy/tropical spastic paraparesisNatsuko Yamakawa, Naoko Yagishita, Tomohiro Matsuo, et al.
Orphanet Journal of Rare Diseases|July 1, 2020
Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristicsInés Gómez-Acebo, Sara Rodríguez Prado, Ángel De La Mora, et al.
Orphanet Journal of Rare Diseases|July 1, 2020
Non-deletional alpha thalassaemia: a reviewIbrahim Kalle Kwaifa, Mei I Lai, Sabariah Md Noor
Orphanet Journal of Rare Diseases|July 2, 2020
PKU dietary handbook to accompany PKU guidelinesA MacDonald, A M J van Wegberg, K Ahring, et al.
Orphanet Journal of Rare Diseases|July 25, 2020
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantationMasaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, et al.
Orphanet Journal of Rare Diseases|August 14, 2020
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a TreatabolomeAntonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
Orphanet Journal of Rare Diseases|April 14, 2021
Childbirth and motherhood in women with motor disability due to a rare condition: an exploratory studyMarc Dommergues, Drina Candilis, Ludivine Becerra, et al.
Orphanet Journal of Rare Diseases|April 27, 2021
Patient and caregiver experiences of living with acute hepatic porphyria in the UK: a mixed-methods studyLiz Gill, Sue Burrell, John Chamberlayne, et al.
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