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Orphanet Journal of Rare Diseases|July 9, 2022
An observational, non-interventional study for the follow-up of patients with amyloidosis who received miridesap followed by dezamizumab in a phase 1 studyDuncan Richards, Helen Millns, Louise Cookson, et al.
Orphanet Journal of Rare Diseases|April 28, 2022
Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCNAnindita Ray, Esita Chattopadhyay, Richa Singh, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in GermanyAndreas Hahn, René Günther, Albert Ludolph, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP RegistryKathryn M Dahir, Lothar Seefried, Priya S Kishnani, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemiaAnna Repczynska, Katarzyna Julga, Jolanta Skalska-Sadowska, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohortFrancesco Tagliaferri, Miriam Massese, Luisa Russo, et al.
Orphanet Journal of Rare Diseases|June 15, 2019
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortiumMuhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, et al.
Orphanet Journal of Rare Diseases|June 15, 2019
Cost-effectiveness analysis of three algorithms for diagnosing primary ciliary dyskinesia: a simulation studyPanayiotis Kouis, Stefania I Papatheodorou, Nicos Middleton, et al.
Orphanet Journal of Rare Diseases|June 15, 2019
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature reviewMarlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, et al.
Orphanet Journal of Rare Diseases|June 15, 2019
Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis IIIHsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, et al.
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