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Orphanet Journal of Rare Diseases|November 16, 2019
A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccadesSusanne Hopf, Norbert Pfeiffer, Matthias Liesenfeld, et al.
Orphanet Journal of Rare Diseases|November 16, 2019
Obesity in achondroplasia patients: from evidence to medical monitoringCeline Saint-Laurent, Laura Garde-Etayo, Elvire Gouze
Orphanet Journal of Rare Diseases|November 16, 2019
Incidence of acquired thrombotic thrombocytopenic purpura in Germany: a hospital level studyWolfgang Miesbach, Jan Menne, Martin Bommer, et al.
Orphanet Journal of Rare Diseases|November 10, 2019
C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathyNóra Garam, Zoltán Prohászka, Ágnes Szilágyi, et al.
Orphanet Journal of Rare Diseases|November 21, 2019
Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onsetRaffaello Ditaranto, Giuseppe Boriani, Mauro Biffi, et al.
Orphanet Journal of Rare Diseases|November 23, 2019
Biliary tract large cell neuroendocrine carcinoma: current evidenceRiva Raiker, Aman Chauhan, Hassan Hasanein, et al.
Orphanet Journal of Rare Diseases|November 23, 2019
Correction to: 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|November 8, 2019
Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single-center experience and literature reviewLi Ma, Yu Xia, Linlin Wang, et al.
Orphanet Journal of Rare Diseases|November 9, 2019
Untypical autoimmune pancreatitis and pancreatic cancer: differential diagnosis experiences extracted from misdiagnose of two casesGaopeng Li, Ting Liu, Jian Zheng, et al.
Orphanet Journal of Rare Diseases|January 1, 2020
Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese childrenLijun Fan, Xiaoya Ren, Yanning Song, et al.
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