Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.



Both the TIDE BC project and the Treatable-ID.org App are based upon a systematic literature review, performed by Dr. Clara van Karnebeek & Dr. Sylvia Stöckler.

This review, titled: "Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review" identifies 81 inborn errors of metabolism which are causally related to intellectual disability and amenable to therapy. This systematic review has been submitted to "Molecular Genetics and Metabolism" for publication and has been excepted, awaiting publication somewhere early 2012.

The article is already available online and can be viewed / downloaded here.