Lauria,L. et al. Women’s knowledge and periconceptional use of folic acid...rarejournal.org/rarejournal/…
Tordrup,D et al. Orphan Drug considerations in Health Technology Assessment in eight European countries rarejournal.org/rarejournal/…
Strange, Ch. et al. Dimensions of social impact identified in and by the alpha-1 antitrypsin deficiency..rarejournal.org/rarejournal/…
Rubinstein, Y. et al. Informed consent template for patient participation in rare disease registries linked to..
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Van Karnebeek, C. et al. Bone marrow transplant for a boy with alpha-mannosidosis illustrates..rarejournal.org/rarejournal/…
Lang, SH. et al. A systematic review to evaluate the effectiveness of enzyme replacement therapy..rarejournal.org/rarejournal/…
Aman Hamid, N. et al. Rare metabolic diseases among the Irish Travellers ..rarejournal.org/rarejournal/…
Jain, S et al. Audiological profile of a patient with MPS type IVA rarejournal.org/rarejournal/…
Hilton Boon M. et al. Improving the Retrieval and Dissemination of Rare Disease Guidelines..rarejournal.org/rarejournal/…
Sejersen, T. et al. Methodology for production of best practice guidelines for rare diseases rarejournal.org/rarejournal/…
Taruscio, D, Morciano C, et al. RARE-Bestpractices: a platform for sharing best practices for the management of rare..rarejournal.org/rarejournal/…
