Methods 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.
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.
- ACYLCARNITINES:
- AMINO ACIDS:
- Amino Acid Analysis-Back to Basics
- Amino acid analysis outside the U.K
- Amino Acid Methods: Present and Future
- Amino Acid Pot Pourri:
- Amino Acids Reporting: The Clinical Biochemist
- Amino Acids Reporting: The Dietitiant
- Amino Acids Reporting: The requesting doctor
- Amino Acids Working Group - Report
- Amino acids: fed or fasted?
- An MSMS Method for Urine Cystines
- Biochrom Ion Exchange Chromatography
- Clinical Indications For Amino Acid Analysis
- Development of an automated method for the measurement of leucocyte cystine by LCMS
- Drug interferences in amino acid analyses
- Is Ion Exchange Chromatography the gold standard method for amino acid analysis?
- Problems with the detection of uncommon amino acids using the Biochrom 30
- Where are we now? A report from the MetBioNet Amino Acid questionnaire
- Workshop introduction, amino acids
- Tackle your Amino Acid Analyser
- ENZYMES:
- GC-MS:
- HPLC:
- MASS SPECTROMETRY:
- MOLECULAR GENETICS:
- MONO & DISACCHARIDES:
- MUCOPOLYSACCHARIDES:
- NEWBORN SCREENING:
- OLIGOSACCHARIDES
- ORGANIC ACIDS
- OTHERS
- PORPHYRINS:
- PURINES & PYRIMIDINES:
- VERY LONG CHAIN FATTY ACIDS:
ACYLCARNITINES:
Acylcarnitine Analysis using the Perkin Elmer Neobase Kit:
[Intermediate Level]
Provider: MetBio
Posted: 1-Jun-2009,
Date for Routine Review: 1-Jun-2014
Acylcarnitines and Inherited Metabolic Disease
[Introductory Level]
David Hardy
Provider: MetBioNet
Posted: 22-Jun-2012,
Date for Routine Review: 22-Jun-2017
Acylcarnitine spectra and associated disorders:
[Introductory Level]
Provider: MetBio
Posted: 1-Jun-2009,
Date for Routine Review: 1-Jun-2014
Acylcarnitines HPLC:
[Introductory Level]
Presentation from MetBioNet BMS training group workshop. Bristol 28/04/15.Nana Ghansah, Great Ormond Street Children's Hospital. 'High Performance Liquid Chromatography.'
Provider: MetBioNet
Posted: 27-May-2015,
Date for Routine Review: 27-May-2020
Newborn Screening & Acylcarnitines:
[Intermediate Level]
Presented at the MetBioNet Workshop on Acylcarnitines in Sheffield on 20th February 2013
Provider: MetBio
Posted: 9-Mar-2013,
Date for Routine Review: 9-Mar-2018
Pitfalls of Acylcarnitine Analysis
[Advanced Level]
Quality Day
Provider: MetBio
Posted: 1-Oct-2006,
Date for Routine Review: 1-Oct-2011
AMINO ACIDS:
Amino Acid Analysis-Back to Basics
[Introductory Level]
Provider: MetBioNet
Posted: 22-Jun-2012,
Date for Routine Review: 22-Jun-2017
Peroxisomal disorders
[Introductory Level]
Provider: MetBio
Posted: 1-Jul-2003,
Date for Routine Review: 1-Jul-2008
Amino acid analysis outside the U.K
[Advanced Level]
Provider: MetBio
Posted: 1-Jun-2009,
Date for Routine Review: 1-Jun-2014
Amino Acid Methods:
Present and Future
[Intermediate Level]
Provider: MetBio
Posted: 1-Jun-2009,
Date for Routine Review: 1-Jun-2014
Amino Acid Pot Pourri:
[Intermediate Level]
Provider: MetBio
Posted: 1-May-2005,
Date for Routine Review: 1-May-2010
Amino Acids Reporting: The Clinical Biochemist
[Advanced Level]
Provider: MetBio
Posted: 1-Jun-2006,
Date for Routine Review: 1-Jun-2011
Amino Acids Reporting: The Dietitiant
[Advanced Level]
Provider: MetBioNet
Posted: 21-Jan-2005,
Date for Routine Review: 21-Jan-2010
Amino Acids Reporting: The requesting doctor
[Advanced Level]
Provider: MetBio
Posted: 1-Jun-2006,
Date for Routine Review: 1-Jun-2011
Amino Acids Working Group - Report
[Advanced Level]
Provider: MetBio
Posted: 1-Jun-2006,
Date for Routine Review: 1-Jun-2011
Amino acids: fed or fasted?
[Intermediate Level]
Quality Day Presentation
Provider: MetBio
Posted: 1-May-2006,
Date for Routine Review: 1-May-2011
An MSMS Method for Urine Cystines
[Advanced Level]
Provider: MetBionet
Posted: 24-Jan-2012,
Date for Routine Review: 24-Jan-2017
Biochrom Ion Exchange Chromatography
[Introductory Level]
Presentation from MetBioNet BMS training group workshop. Bristol 28/04/15.
Joanna Mason, Birmingham Children's Hospital. 'Tackle your AAA'
Provider: MetBioNet
Posted: 27-May-2015,
Date for Routine Review: 27-May-2020
Clinical Indications For Amino Acid Analysis
[Advanced Level]
Provider: MetBio
Posted: 1-Jul-2005,
Date for Routine Review: 1-Jul-2010
CSF Amino Acids: Reference Data and Interpretation
[Advanced Level]
Provider: MetBioNet
Posted: 27-May-2009,
Date for Routine Review: 27-May-2014
Development of an automated method for the measurement of leucocyte cystine by LCMS
[Advanced Level]
Provider: MetBioNet
Posted: 24-Jan-2012,
Date for Routine Review: 24-Jan-2017
Drug interferences in amino acid analyses
[Advanced Level]
Provider: Department Clinical Biochemistry, Leeds Teaching Hospitals Trust, Leeds, UK
Posted: 1-Jun-2009,
Date for Routine Review: 1-Jun-2014
Is Ion Exchange Chromatography the gold standard method for amino acid analysis?
[Intermediate Level]
Provider: MetBio
Posted: 1-Jul-2003,
Date for Routine Review: 1-Jul-2008
Problems with the detection of uncommon amino acids using the Biochrom 30
[Intermediate Level]
Provider: Sheffield Children's Hospital NHS Foundation Trust
Posted: 8-Dec-2014,
Date for Routine Review: 8-Dec-2019
Where are we now? A report from the MetBioNet Amino Acid questionnaire
[Advanced Level]
Provider: MetBio
Posted: 1-Jul-2006,
Date for Routine Review: 1-Jul-2011
Workshop introduction, amino acids
[Introductory Level]
Provider: Leeds Teaching Hospitals
Posted: 4-May-2011, Date for Routine Review: 4-May-2016
Tackle your Amino Acid Analyser
[Advanced Level]
Provider: MBN BMS Training Group
Posted: 20/04/2015,
Contact: Louise Allen & Joanna Mason Birmingham Children's Hospital Genetics Lab
ENZYMES:
Pompe Disease-Biochemical Investigation and Monitoring
[Advanced 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
The role of the Laboratory in diagnosing Lysosomal Disorders
[Introductory Level]
Guy Besley
Provider: MetBioNet
Posted: 22-Jun-2012,
Date for Routine Review: 22-Jun-2017
White Cell Enzymes-what are they?
[Introductory Level]
Jean Kirk
Provider: MetBioNet
Posted: 22-Jun-2012,
Date for Routine Review: 22-Jun-2017
GC-MS:
Gas Chromatography Mass Spectrometry (GC-MS) an overview:
[Introductory Level]
Provider: MBN BMS Training Group
Posted: 20/04/2015,
Contact: Graeme Smith, Willink Biochemical Genetics Lab
Organic acids vanishing peaks
[Advanced Level]
Provider: MBN BMS Training Group
Posted: 20/06/2009
Contact: David Cardy
HPLC:
High Performance Liquid Chromatography
[Introductory Level]
Provider: MBN BMS Training Group
Posted: 20/04/2015,
Contact: Lis Smith Alder Hey Children's Hospital
MASS SPECTROMETRY:
Introduction to LC/MS
[Introductory Level]
Provider: Applied Biosystems
Posted: 24-Jul-2009,
Contact: Dr Michael Baynham
Mass Spectrometry in Clinical Chemistry
[Introductory Level]
David Hardy
Provider: MetBioNet
Posted: 22-Jun-2012,
Date for Routine Review: 24-Jun-2016
Key aspects of mass spectrometry
[Introdcutory Level]
Provider: Royal College of Pathologists
Posted: 18-Jan-2012,
Date for Routine Review: 30-Jan-2016
Introduction to the British Mass Spectrometry Society:
[Introductory Level]
Provider: MetBioNet
Posted: 24-Jan-2012,
Date for Routine Review: 24-Jan-2017
Tandem Mass Spectrometry
[Intermediate Level]
Presentation from MetBioNet BMS training group workshop. Bristol 28/04/15.
Sarah Montague and Dipti Seekun. North Thames Newborn Screening Laboratory. 'Tandem Mass Spectrometry: Practicalities and Troubleshooting'
Provider: MetBioNet
Posted: 27-May-2015,
Date for Routine Review: 27-May-2020
Tackling the Techniques -Tandem Mass Spectrometry
[Advanced Level]
Provider: MBN BMS Training Group
Posted: 20/04/2015,
Contact: Marie Appleton, Royal Victoria Infirmary
MOLECULAR GENETICS:
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: MetBioNet
Posted: 16-Jun-2011, Contact: George Gray
Applications of Next generation DNA sequencing in Newborn Screenings
[Introductory Level]
Provider: Sheffield Children's Hospital NHS Foundation Trust
Posted: 17-Jul-2014,
Date for Routine Review: 17-Jul-2019
Whole exome sequencing as a first line test: Is there even a role for metabolic biochemists in the future?
[Intermediate Level]
Presentation given at the MetBioNet meeting 'Out with the old, in with the new?' held in Sheffield 14/03/2017.
Provider: MetBioNet
Posted: 23-Mar-2017,
Date for Routine Review: 23-Mar-2022
MONO & DISACCHARIDES:
Galactosaemia and Immunoreactive Trypsin
[Intermediate Level]
Provider: MetBio
Posted: 1-Apr-2005,
Date for Routine Review: 1-Apr-2010
MUCOPOLYSACCHARIDES:
Quantitation and Identification of Urine Mucopolysaccharides
[Introductory Level]
A review of current methods used in IMD labs for the analysis of urine mucoploysaccharides
Provider: MetBioNet
Posted: 24-Jun-2011,
Date for Routine Review: 24-Jun-2016
MPS & where we are now - Technical update on new membranes
[Intermediate Level]
Provider: MBN BMS Training Group
Posted: 14/11/09
Contact: Louise Allen
Mucopolysaccharides by Thin Layer Chromatography:
[Intermediate Level]
Provider: MBN BMS Training Group
Posted: 14/11/09
Contact: Deborah Riley
NEWBORN SCREENING:
Basic training module in Newborn Screening:
[Introductory Level]
Provider: MetBio
Posted: 5-Sep-2009,
Date for Routine Review: 5-Sep-2014
Newborn Screening for Congenital Hypothyroidism:
[Intermediate Level]
Leslie Tetlow
Provider: MetBioNet
Posted: 22-Jun-2012,
Date for Routine Review: 22-Jun-2017
Newborn Screening for MCADD Deficiency: Experience of a Pilot QA Scheme:
[Intermediate Level]
Provider: MetBio
Posted: 1-Jul-2006,
Date for Routine Review: 1-Jul-2011
OLIGOSACCHARIDES
Oligosaccharides -
Manual Techniques
Presentation from MetBioNet BMS training group workshop. Bristol 28/04/15.Angela Kingham, Nottingham City Hospital. 'Manual Techniques'
Provider: MetBioNet
Posted: 27-May-2015, Date for Routine Review: 27-May-2020
Oligosaccharide Analysis
[Introductory Level]
Presentation from MetBioNet BMS training group workshop. Bristol 28/04/15.
Sarah Montague and Dipti Seekun. North Thames Newborn Screening Laboratory. 'Tandem Mass Spectrometry: Practicalities and Troubleshooting'
Provider: MetBioNet
Posted: 27-May-2015, Date for Routine Review: 27-May-2020
ORGANIC ACIDS
Organic Acids analaysis by GC-MS:
[Introductory Level]
Provider: Sheffield Children's Hospital
Posted: 1-Mar-2006, Date for Routine Review: 1-Mar-2011
The Role of Organic Acids in the Diagnosis of Peroxisomal Biogenesis Disorders:
[Advanced Level]
Provider: Sheffield Children's Hospital
Posted: 1-Mar-2006,
Date for Routine Review: 1-Mar-2011
Urinary Acylglycine LC-MSMS methods. Analytical concerns & clinical use:
[Advanced Level]
Provider: MetBioNet
Posted: 24-Jan-2012,
Date for Routine Review: 24-Jan-2017
Urinary qualitative organic acid analysis: Differing analytical approaches and performance:
[Intermediate Level]
Quality Day
Provider: MetBio
Posted: 1-Oct-2006, Date for Routine Review: 1-Oct-2011
OTHERS
Diagnosis of CDG Enzyme Analysis and Other Investigations:
[Intermediate Level]
Provider: MetBio
Posted: 1-Apr-2005, Date for Routine Review: 1-Apr-2010
Introduction to the British Mass Spectrometry Society
[Introductory Level]
Provider: MetBioNet
Posted: 24-Jan-2012,
Date for Routine Review: 24-Jan-2017
Manual Techniques
[Introductory Level]
Provider: MBN BMS Training Group
Posted: 20/04/2015,
Contact: June Petty, St Mary's Hospital Manchester
PORPHYRINS:
Porphyrin methodology
[Intermediate Level Level]
Provider: MetBio
Posted: 1-Jun-2006,
Date for Routine Review: 1-Jun-2011
The Role Of Mutation Analysis in Porphyria
[Advanced Level]
Provider: MetBio
Posted: 1-Jun-2006,
Date for Routine Review: 1-Jun-2011
PURINES & PYRIMIDINES:
Quantitative analysis of Orotic Acid by LC-MS/MS
[Advanced Level]
Provider: MetBioNet
Posted: 24-Jan-2012,
Date for Routine Review: 24-Jan-2017
VERY LONG CHAIN FATTY ACIDS:
GCMS Technical Overview & use for VLCFA
[Intermediate Level]
Provider: MBN Training Group
Posted: 14/11/2019
Contact: Olivia Edmondson
Gas Chromatography Mass Spectrometry (GC-MS) an overview
[Introductory Level]
Provider: MBN BMS Training Group
Posted: 20/04/2015,
Contact: Graeme Smith, Willink Biochemical Genetics Lab
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.