The National Metabolic Biochemistry Network - MetBio.Net

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Investigation of IMD• Rare to have isolated DD– IMDs more common with associatedclinical features– DD may precede onset more specificfeatures of the disease– Importance of serial assessment• Which IMDs to consider ?• Which tests to consider ?MetBioNet
Approach to Investigation• No specific clinical findings but– family history– consanguinity– failure to thrive– intermittent/episodic illnessMetBioNet
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 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 34 and 35: Guidelines in Progress• SUDI ( Me
Page 36 and 37: Summary - The Resource• Network o

The National Metabolic Biochemistry Network - MetBio.Net

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