Proposed Guidelines for the diagnosis and treatment of disorders of the Urea Cycle.

Proposed Guidelines for the diagnosis and treatment of Methylmalonic and Propionic Oxyemia.

You can find Good Practice Guidelines as well as Emergency Management related to Endogenous Metabolic Diseases here:

www.metbio.net

www.bimdg.org.uk

www.orpha.net

For open access publications on Rare Diseases you can refer to the Orphanet Journal of Rare Diseases.

The quality of economic evaluations of ultra-orphan drugs in Europe - a systematic review

Inherited Metabolic Disease in Adults, A Clinical Guide. Oxford University Press; 648 pages. August 2016. Edited by Carla E.M. Hollak and Robin Lachmann

Inborn metabolic diseases. Diagnosis and treatment. 6th edition; 658 pages. November 2016. Edited by Jean-Marie Saudubray, Matthias Baumgartner and John Walter