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.

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Together with the dieticians in BC Children's Hospital, we've created an exciting line-up of diet apps. These apps are designed to support families and children who suffer very rare disorders like: Maple Syrup Urine Disease, Pyridoxine dependent epilepsy, Phenylketonuria and 12 others.You can read more about these apps and try them out via this link:http://www.metabolicdietapp.org
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app
Our clinical tool, available via the website treatable-id.org, has a steady user base. Clinicians & scientists can use a mobile version of the tool by simply visiting the website from their device (phone or tablet).

As of last week the tool is available for IPhone and IPad via the App Store as well. Besides the diagnostic tool the app offers additional information on the TIDE program (news, the protocol, movies etc.). You can find the app in the App Store (via this link) and download it for free.
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During the Canadian Association of Paediatric Health Centres Conference (held in Vancouver Oct 28-31, 2012) TIDE BC presented four posters highlighting several of TIDE’s accomplishments


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Launched in November 2011, in the presence of Mr Larry Gold and colleagues at BC Children’s Hospital and other UBC institutions, the TIDE App has now been rocketed (via a publication in the Orphanet Journal for Rare Diseases) into the world to facilitate the diagnostic work-up of intellectual disability patients. Recent numbers show that the app is visited & used by 300-400 new people every week!
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On november 10th 2011 the Clinical Tool "Treatable-ID" was officially launched at BC Children's. The App is accessible via www.treatable-id.org
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