Vol 1, No 2 (2014)

Table of Contents

Epidemiology and Clinical Research

Audiological profile of a patient with MPS type IVA
Saransh Jain, Vikas Mysore Dwarakanath, Suman Suresh
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Rare metabolic diseases among the Irish travellers: results from the All Ireland Traveller Health Study census and birth cohort (2007-2011)
Noor Aman Hamid, Cecily Kelleher, Catherine McGorrian, Leslie Daly, Patricia Fitzpatrick
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A systematic review to evaluate the effectiveness of enzyme replacement therapy for lysosomal storage disorders in comparison to the treatment of similar diseases with higher prevalence
Shona Helen Lang, Nigel Armstrong, Caro Noakes, Jos Kleijnen
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Rare diseases policy

Bone marrow transplant for a boy with alpha-mannosidosis illustrates a family’s decision-making in rare diseases
Clara van Karnebeek, Mary Dunbar, Jeff Davis, Kristin Bowden, Kevin Chaplin, Robin Chaplin, Dina McConnell, Paul Moxham, Millan S. Patel, Paul Steinbok, Hilary Vallance, Sylvia Stockler
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Informed consent template for patient participation in rare disease registries linked to biorepositories
Yaffa Reuveni Rubinstein, Barbara Karp, Nicole Lockhart, Christine Grady, Stephen C. Groft
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