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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One of the objectives of TIDE-BC is development of tests by a relatively new technology called tandem mass spectrometry (TMS). With TMS, a large number of metabolites can be measured simultaneously to screen for treatable metabolic disorders.

judie
Supported by TIDE, work is underway to develop a comprehensive amino acid panel for the diagnosis and monitoring of a variety of treatable amino acid and urea cycle disorders. Test development includes oxysterol analysis to screen for Niemann Pick type C, for which there is a new treatment. To increase capacity further for new test development, a fundraising effort was launched by Dr. Vallance and Dr. Sinclair (BGL Lab Scientists) to acquire an additional TMS instrument. Over $90,000 was raised from personal donations and industry sponsors, as well as a contribution from TIDE-BC, with the difference generously provided by the Provincial Health Services Agency.
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tidemedsdiet
The diet used to control phyenlalanine (Phe) levels in patients with Phenylketonuria (PKU) is not only quite restrictive, it is also a life-long commitment. TIDE-BC is pleased to announce that it has just received funding to develop a Canadian Consortium to test the effectiveness of a drug that would enable more leeway in dietary choices for PKU patients.
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