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Orphanet Journal of Rare Diseases|November 19, 2021
Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancyCarmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, et al.
Orphanet Journal of Rare Diseases|June 16, 2026
A review of PI3K/AKT/mTOR inhibitors from traditional Chinese medicine: potential and perspective for activated phosphoinositide 3-kinase δ syndromeYixuan Xie, Linghui Nie, Litao Bai, et al.
Orphanet Journal of Rare Diseases|June 13, 2026
Diagnosis of de novo fetal aceruloplasminemia via whole exome sequencing and fetal umbilical blood ceruloplasmin measurementPengzhen Jin, Guangmei Dai, Jiawei Hong, et al.
Orphanet Journal of Rare Diseases|June 13, 2026
Disordered eating in diet-treated inborn errors of metabolism: screening and behavioral insightsMary Kate LoPiccolo, Claire Cinnamon, Colleen Donnelly, et al.
Orphanet Journal of Rare Diseases|June 16, 2026
Psychiatric manifestations in Neuronal ceroid lipofuscinosesStefania Della Vecchia, Alessandro Simonati, Maria Marchese, et al.
Orphanet Journal of Rare Diseases|October 11, 2012
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patientsJérôme Stirnemann, Marie Vigan, Dalil Hamroun, et al.
Orphanet Journal of Rare Diseases|May 24, 2018
Improving the analysis of composite endpoints in rare disease trialsMartina McMenamin, Anna Berglind, James M S Wason
Orphanet Journal of Rare Diseases|July 10, 2026
Total glucosides of Paeony alleviates chronic endometritis in rats through regulating gut microbiota composition and inhibiting TLR4/NF-κB/NLRP3 pathwayXijia Ma, Xuelin Zhang, Dandan Wang, et al.
Orphanet Journal of Rare Diseases|January 19, 2017
Multi-criteria decision analysis (MCDA): testing a proposed MCDA framework for orphan drugsC Schey, P F M Krabbe, M J Postma, et al.
Orphanet Journal of Rare Diseases|July 4, 2026
Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classificationTabeer Fatima, Jalal Khan, Fatma Al-Jasmi, et al.
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