The National Metabolic Biochemistry Network - MetBio.Net

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Guidelines in Progress• SUDI ( Metabolic autopsy)• Lactic Acidosis• Liver dysfunction (older child)• Cardiomyopathy• Encephalopathy• Dysmorphism• Autism• Rhabdomyolysis• Unexplained tubular dysfunctionMetBioNet
Future Plans• More Guidelines/Dissemination of Guidelines• Assay Directory• Disorder links• Links to UKGTN ( molecular tests)• European links for rarer tests• Service issues– Very rare tests– Specialised skills– Newborn screening– National clinical networks ( National review)MetBioNet
Page 1: The National MetabolicBiochemistry
Page 4 and 5: Background- Labs facing major growt
Page 6 and 7: The Project Aims• Form a network
Page 8 and 9: The Project Outcomes• Form a netw
Page 10 and 11: MetBioNet Home Page
Page 12 and 13: Service to Users• Infrastructure
Page 16 and 17: Assay Directory• Specialist metab
Page 20 and 21: Metabolic Assay Directory - Search
Page 22 and 23: Best Practice Guidelines
Page 24 and 25: Best Practice GuidelinesHOW TO INVE
Page 26 and 27: Investigation of IMD• Rare to hav
Page 28 and 29: Approach to Investigation• No spe
Page 30 and 31: Seizure Disorder• Sulphite ox/Mol
Page 32 and 33: Associated Clinical Features2nd lin
Page 36 and 37: Summary - The Resource• Network o

The National Metabolic Biochemistry Network - MetBio.Net

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