Symptoms Presentations
Below is a list of presentations supplied, with their permission, by members of the Metabolic Biochemistry Network and other colleagues.
Presentations are grouped by disorder theme.
Any personal patient information has been removed.
GENERAL:
Assessing Hyperinsulinism
[Intermediate Level]
Provider: MetBio
Posted: 1-May-2005, Date for Routine Review: 1-May-2010
Biochemical Genetics:what do you need to know?
[Introductory Level]
This is an article written by the MetBioNet Trainers and published in March 2010 inThe BioMedical Scientist - a publication of the Institute of Biomedical Scientists. It gives a brief introduction to Metabolic Disease to BioMedical Scientists in District General Hospitals with clues as to laboratory results and clinical symptoms that may suggets a metabolic disorder.
Provider: IBMS
Posted: 25-May-2010,
Date for Routine Review: 25-May-2015
Dysmorphology
[Introductory Level]
Provider: MetBioNet
Posted: 21-Jan-2011,
Date for Routine Review: 21-Jan-2016
Hyperammonaemia
[Introductory Level]
Provider: MetBio
Posted: 1-Jun-2006,
Date for Routine Review: 1-Jun-2011
Inborn errors of metabolism in the child with developmental delay
[Introductory Level]
Provider: MetBioNet
Posted: 21-Jan-2006,
Date for Routine Review: 21-Jan-2011
Laboratory investigation of lactic acidaemia
[Introductory Level]
Provider: MetBioNet
Posted: 21-Jan-2006,
Date for Routine Review: 21-Jan-2011
Management of neonatal jaundice
[Intermediate Level]
Provider: MetBio
Posted: 1-Jun-2005,
Date for Routine Review: 1-Jun-2010
Metabolic Pathways: Networks of Care - RCPath Presentation
[Intermediate Level]
Provider: MetBio
Posted: 1-Mar-2006,
Date for Routine Review: 1-Mar-2011
MUSCLE SYMPTOMS:
Metabolic Muscle Diseases - an overview
[Introductory Level]
Tim Hutchin
Provider: MetBioNet
Posted: 22-Jun-2012,
Date for Routine Review: 22-Jun-2017
NCG Diagnostic and Management Service for McArdle Disease and Related Disorders
Ros Quinlivan
Presented by Mary Anne Preece at the BIMDG Conference July 2012
Provider: BIMDG
Posted: 21-Aug-2012,
Date for Routine Review: 21-Aug-2017
The Ischaemic Lactate Test
[Introductory Level]
Presented at a meeting on 2/2/11 at GOSH on "Glycogen-Biochemical,Clinical & Diagnostic Aspects"
Provider: GOSH
Posted: 4-Aug-2011,
Date for Routine Review: 4-Aug-2016
Treatment Options for Acid maltase Deficiency (Pompe)
[Intermediate Level]
Presented at a meeting on 2/2/11 at GOSH on "Glycogen-Biochemical,Clinical & Diagnostic Aspects"
Provider: GOSH
Posted: 26-Jul-2011,
Date for Routine Review: 26-Jul-2016
NEONATAL:
Case Presentation: An Irritable Infant with a Surprise Diagnosis
[Intermediate Level]
Provider: MetBio
Posted: 1-Aug-2003,
Date for Routine Review: 1-Aug-2008
Neonatal Biochemistry: Investigation for Inherited Metabolic Disorders (IMDs)
[Introductory Level]
Provider: MetBio
Posted: 1-May-2005, Date for Routine Review: 1-May-2010
NEUROLOGICAL:
Childhood Epilepsy
[Introductory Level]
Provider: MetBio
Posted: 1-May-2007,
Date for Routine Review: 1-May-2012
CSF Investigations in patients with seizures
[Intermediate Level]
Simon Olpin
Provider: MetBioNet
Posted: 22-Jun-2012, Date for Routine Review: 22-Jun-2017
Fits and Seizures
[Introductory Level]
Provider: MetBioNet
Posted: 24-Jan-2006,
Date for Routine Review: 24-Jan-2011
SPEECH & LANGUAGE:
Speech and Language Therapy - a whistle stop tour
[Introductory Level]
Provider: GOSH
Posted: 26-Jul-2011, Date for Routine Review: 26-Jul-2016
SUDDEN UNEXPECTED DEATH IN INFANCY (SUDI):
Investigation of Sudden and Unexpected Infant Deaths
[Introductory Level]
Provider: MetBio
Posted: 1-Jun-2006,
Date for Routine Review: 1-Jun-2011
Sudden Unexpected Death in Infancy-The Clinical Experience
[Intermediate Level]
The SUDI Box, Implementaion and Experience
Presentation at the meeting on Sudden Unexpected Death in Infancy in Leeds May 15th 2013
Provider: MetBioNet
Posted: 18-May-2013, Date for Routine Review: 18-May-2018
Toxicology Aspects of SUDI
[Intermediate Level]
The SUDI Box, Implementaion and Experience
Presentation at the meeting on Sudden Unexpected Death in Infancy in Leeds May 15th 2013
Provider: MetBioNet
Posted: 18-May-2013, Date for Routine Review: 18-May-2018
Post Mortem Investigation of Inherited Metabolic Disease
[Intermediate Level]
Simon Olpin
Presentation at the meeting on Sudden Unexpected Death in Infancy in Leeds May 15th 2013
Provider: MetBioNet
Posted: 18-May-2013, Date for Routine Review: 18-May-2018
Fat Oxidation and Early Death-Recent Reports
[Intermediate Level]
Robert Barski
Presentation at the meeting on Sudden Unexpected Death in Infancy in Leeds May 15th 2013
Provider: MetBioNet
Posted: 18-May-2013, Date for Routine Review: 18-May-2018
Copyright Disclaimer:
Presentations remain the intellectual property and responsibility of the author. Any queries relating to content should be addressed to the author and not to MetBioNet. Permission to reproduce or otherwise use any of the material contained within these presentations must be sought from the author.