Presentations
Below is a list of presentations supplied, with their permission, by members of the Metabolic Biochemistry Network, the BMS Training Group, and other colleagues. Any personal patient information has been removed.
They are classified into:-
Disorders:
This includes presentations where a specific disorder or group of disorders is discussed. These are further classified based on the disorder group.
Methods:
These are classified according to the type of molecule involved (amino acid, enzyme, DNA etc) and generally discuss analytical techniques, the interpretation of results and the application of the test to diagnose specific disorders.
Symptoms:
This section includes presentations on the differential diagnosis of inborn errors of metabolism in patients presenting with common symptoms or symptom groups eg hypoglycaemia, jaundice etc and also on the structure of diagnostic services for metabolic disease.
Case Reports:
These Case Reports were originally created by trainees in metabolic disease as part of their training. They are based on their experiences in the laboratory and show the difficulties as well as the structured approach to diagnosis.
We now invite any professional (trainee or otherwise) who has a Case Report which they believe may be helpful to trainees to download the Case Study Template below. The reports need not necessarily be about unusual or exotic cases. Simple cases can often be very helpful and informative. All personal patient details should be removed. Please forward the draft to George Gray (Contact details in the Case Report Template).
All are pdf files and the vast majority are in PowerPoint format but the version of PowerPoint used may vary.