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Orphanet Journal of Rare Diseases|October 29, 2021
Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?Tobias Schmidt, Constantin Schmidt, Michael Amling, et al.
Orphanet Journal of Rare Diseases|November 3, 2021
Alterations in brain morphology by MRI in adults with neurofibromatosis 1Su Wang, Victor-Felix Mautner, Ralph Buchert, et al.
Orphanet Journal of Rare Diseases|November 3, 2021
A systematic literature review of frequency of vaso-occlusive crises in sickle cell diseaseAhmar U Zaidi, Alexander K Glaros, Soyon Lee, et al.
Orphanet Journal of Rare Diseases|July 15, 2022
A conceptual disease model for quality of life in mitochondrial diseaseKim F E van de Loo, Nander T van Zeijl, José A E Custers, et al.
Orphanet Journal of Rare Diseases|July 15, 2022
A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathyAlyaa Shmara, Mari Perez-Rosendahl, Kady Murphy, et al.
Orphanet Journal of Rare Diseases|July 27, 2022
Current status and trend of clinical development of orphan drugs in ChinaZiling Xiang, Wengao Jiang, Bo Yan, et al.
Orphanet Journal of Rare Diseases|April 5, 2022
Differential humanistic and economic burden of mild, moderate and severe haemophilia in european adults: a regression analysis of the CHESS II studyIdaira Rodriguez-Santana, Pronabesh DasMahapatra, Tom Burke, et al.
Orphanet Journal of Rare Diseases|February 3, 2016
Extrathoracic investigation in adult patients with isolated pulmonary langerhans cell histiocytosisAbdellatif Tazi, Constance de Margerie-Mellon, Laetitia Vercellino, et al.
Orphanet Journal of Rare Diseases|January 14, 2016
Proteus syndrome: evaluation of the immunological profileVassilios Lougaris, Vincenzo Salpietro, Maricia Cutrupi, et al.
Orphanet Journal of Rare Diseases|January 16, 2016
Novel treatment of severe combined immunodeficiency utilizing ex-vivo T-cell depleted haploidentical hematopoietic stem cell transplantation and CD45RA+ depleted donor lymphocyte infusionsNicholas Brodszki, Dominik Turkiewicz, Jacek Toporski, et al.
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