Talks from the meeting can be downloaded using the links below, depending on availability.
All talks will be added to the MBN Resources pages shortly.
Two virtual sessions held over 13th and 18th May 2021 on MS Teams.
Thursday 13th May 2021 - Newcastle
10.00 – 12.00
Metabolic Case Studies
Host: Marie Appleton: Royal Victoria Infirmary Newcastle
10.00-10.05 Welcome
10.05 -10.25 A Patient With Black Kidney Stones,
Ann Bowron, Royal Victoria Infirmary Newcastle
10.30-10:50 Seizures and a Rash (Biotinidase deficiency)
Fiona Stratford, University Hospital of Wales, Cardiff
10.55-11.05 Short break
11.05-11.30 A case of recurrent Hyperammonaemia
Chris Stockdale, Royal Victoria Infirmary, Newcastle
11.35-11.55 The Utility of Whole Genome Sequencing in the Diagnosis Of IMD‘s Stuart Moat, University Hospital of Wales, Cardiff
11.55- 12.00 Closing remarks
Tuesday 18th May 2021 - Birmingham
14.00 – 16.00
Hang on I’m Having Technical Difficulties (am I on mute?)
Host: Louise Allen Birmingham Women's and Children's NHS Foundation Trust
14.00-14.05 Welcome
14.05-14.25 Tandem Mass Spectrometry
Luke Griffiths University Hospital of Wales, Cardiff and Louise Allen Birmingham
14.30-14:50 Biochrom and Amino Acid Troubleshooting
Laura Cowley Alder Hey, Liverpool
14.55-15.05 Short break
15.05-15.30 HPLC Issues
Bijal Joshi University Hospital Southampton NHS Foundation Trust
15.35-15.55 To be confirmed
15.55-16.00 Closing remarks