Presentations
Acylcarnitines
Amino Acids
Antenatal Diagnosis
Enzymes
Molecular Genetics
Mono & Disaccharides
Mucopolysaccharides
Newborn Screening
Oligosaccharides
Organic Acids
Others
Porphyrins
Purines & Pyrimidines
Quality Assurance
Trace Metals
Very Long Chain Fatty Acids
02 Disorders
Amino Acid
Carbohydrate
Fatty Acid Oxidation
Lysosomal
Metal Ion
Neurotransmitter Disorders
Organic Acid
Others
Peroxisomal
Personal Patient Experiences
Porphyria
Purine & Pyrimidine
Respiratory Chain
03 Symptoms
Adult
Cardiac
Connective Tissue
Dermatological
Eye
Gastrointestinal
General
Liver
Muscle
Neonatal
Neurological
Paediatric
Respiratory
Skeletal
Speech & Language
Presentations
Presentations
On the left is a list of presentations supplied, with their permission, by members of the Metabolic Biochemistry Network and other colleagues. Any personal patient information has been removed.
They are classified into:-
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.
Disorders
This includes presentations where a specific disorder or group of disorders is discussed. These are further classified based on the disorder group.
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.
All are pdf files and the vast majority are in PowerPoint format but the version of PowerPoint used may vary. Click the subgroup to see all the presentations for that group. Clicking the major category eg Methods will reveal a list of all the presentations in that category
Select an option from the menu.