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Orphanet Journal of Rare Diseases|May 8, 2015
Drug repositioning can accelerate discovery of pharmacological chaperonesBruno Hay Mele, Valentina Citro, Giuseppina Andreotti, et al.
Orphanet Journal of Rare Diseases|April 27, 2020
Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reportsLena H P Vroegindeweij, Agnita J W Boon, J H Paul Wilson, et al.
Orphanet Journal of Rare Diseases|April 27, 2020
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disordersMichael Smith, Elizabeth Alexander, Ruta Marcinkute, et al.
Orphanet Journal of Rare Diseases|May 3, 2020
The natural history of infantile neuroaxonal dystrophyFadie D Altuame, Gretchen Foskett, Paldeep S Atwal, et al.
Orphanet Journal of Rare Diseases|May 8, 2020
Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in ChinaJia Zhang, Yuan Sun, Xiaodong Shi, et al.
Orphanet Journal of Rare Diseases|April 25, 2020
Bone tissue and mineral metabolism in hereditary endocrine tumors: clinical manifestations and genetic basesDavide Maraghelli, Francesca Giusti, Francesca Marini, et al.
Orphanet Journal of Rare Diseases|April 17, 2020
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseasesNicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, et al.
Orphanet Journal of Rare Diseases|October 23, 2019
Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysisCaroline Hastings, Camilo Vieira, Benny Liu, et al.
Orphanet Journal of Rare Diseases|May 19, 2021
Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalanceSinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernandez-Felix, et al.
Orphanet Journal of Rare Diseases|August 17, 2021
Two progressed malignant phyllodes tumors of the breast harbor alterations in genes frequently involved in other advanced cancersMattea Reinisch, Sherko Kuemmel, Elisabeth Breit, et al.
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