Presentations

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01 METHODS - ACYLCARNITINES
ACYLCARNITINES
Acylcarnitine Analysis using the Perkin Elmer Neobase Kit
[Intermediate Level]
Acylcarnitine Analysis using the Perkin Elmer Neobase Kit

Provider: MetBioNet
Posted: 24-Jan-2012, Date for Routine Review: 24-Jan-2017

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ACYLCARNITINES
Acylcarnitine spectra and associated disorders
[Introductory Level]

Provider: MetBio
Posted: 1-Jun-2009, Date for Routine Review: 1-Jun-2014

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ACYLCARNITINES
Acylcarnitines and Inherited Metabolic Disease
[Introductory Level]

Acylcarnitines and Inherited Metabolic Disease

David Hardy

Provider: MetBioNet
Posted: 22-Jun-2012, Date for Routine Review: 22-Jun-2017

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ACYLCARNITINES
HPLC

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

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ACYLCARNITINES
Newborn Screening & Acylcarnitines
[Intermediate Level]

Newborn Screening & Acylcarnitines

Presented at the MetBioNet Workshop on Acylcarnitines in Sheffield on 20th February 2013

Provider: MetBioNet
Posted: 9-Mar-2013, Date for Routine Review: 9-Mar-2018

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ACYLCARNITINES
Pitfalls of Acylcarnitine Analysis
[Advanced Level]
Quality Day

Provider: MetBio
Posted: 1-Oct-2006, Date for Routine Review: 1-Oct-2011

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01 METHODS - AMINO ACIDS
AMINO ACIDS
Amino acid analysis outside the U.K.
[Advanced Level]

Provider: MetBio
Posted: 1-Jun-2009, Date for Routine Review: 1-Jun-2014

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AMINO ACIDS
Amino Acid Analysis-Back to Basics...
[Introductory Level]

Amino Acid Analysis-Back to Basics...

Fiona Carragher

Provider: MetBioNet
Posted: 22-Jun-2012, Date for Routine Review: 22-Jun-2017

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AMINO ACIDS
Amino Acid Methods: Present and Future
[Intermediate Level]

Provider: MetBio
Posted: 1-Jun-2009, Date for Routine Review: 1-Jun-2014

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AMINO ACIDS
Amino Acid Pot Pourri
[Intermediate Level]

Provider: MetBio
Posted: 1-May-2005, Date for Routine Review: 1-May-2010

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AMINO ACIDS
Amino Acids Reporting: The Clinical Biochemist
[Advanced Level]

Provider: MetBio
Posted: 1-Jun-2006, Date for Routine Review: 1-Jun-2011

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AMINO ACIDS
Amino Acids Reporting: The Dietitian
[Advanced Level]

Provider: MetBio
Posted: 1-Nov-2005, Date for Routine Review: 1-Nov-2010

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AMINO ACIDS
Amino Acids Reporting: The requesting doctor
[Advanced Level]

Provider: MetBio
Posted: 1-Nov-2005, Date for Routine Review: 1-Nov-2010

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AMINO ACIDS
Amino Acids Working Group - Report
[Advanced Level]

Provider: MetBio
Posted: 1-Jun-2006, Date for Routine Review: 1-Jun-2011

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AMINO ACIDS
Amino acids: fed or fasted?
[Intermediate Level]
Quality Day Presentation

Provider: MetBio
Posted: 1-May-2006, Date for Routine Review: 1-May-2011

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AMINO ACIDS
An MSMS Method for Urine Cystine
[Advanced Level]
An MSMS Method for Urine Cystine

Provider: MetBionet
Posted: 24-Jan-2012, Date for Routine Review: 24-Jan-2017

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AMINO ACIDS
Biochrom Ion Exchange Chromatography

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

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AMINO ACIDS
Clinical Indications For Amino Acid Analysis
[Advanced Level]

Provider: MetBio
Posted: 22-Nov-2005, Date for Routine Review: 22-Nov-2010

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AMINO ACIDS
CSF Amino Acids: Reference Data and Interpretation
[Advanced Level]

Provider: MetBio
Posted: 1-Jun-2009, Date for Routine Review: 1-Jun-2014

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AMINO ACIDS
Development of an automated method for the measurement of leucocyte cystine by LCMS
[Advanced Level]
Development of an automated method for the measurement of leucocyte cystine by LCMS

Provider: MetBioNet
Posted: 24-Jan-2012, Date for Routine Review: 24-Jan-2017

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AMINO ACIDS
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

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AMINO ACIDS
Is Ion Exchange Chromatography the gold standard method for amino acid analysis?
[Intermediate Level]

Provider: MetBioNet
Posted: 23-Mar-2017, Date for Routine Review: 23-Mar-2022

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AMINO ACIDS
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

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AMINO ACIDS
Where are we now? A report from the MetBioNet Amino Acid questionnaire
[Advanced Level]

Provider: MetBio
Posted: 1-Jun-2006, Date for Routine Review: 1-Jun-2011

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AMINO ACIDS
Workshop introduction, amino acids
[Introductory Level]

Provider: Leeds Teaching Hospitals
Posted: 4-May-2011, Date for Routine Review: 4-May-2016

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01 METHODS - ENZYMES
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

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ENZYMES
The role of the Laboratory in diagnosing Lysosomal Disorders
[Introductory Level]

The role of the Laboratory in diagnosing Lysosomal Disorders

Guy Besley

Provider: MetBioNet
Posted: 22-Jun-2012, Date for Routine Review: 22-Jun-2017

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ENZYMES
White Cell Enzymes-what are they?
[Introductory Level]

White Cell Enzymes-what are they?

Jean Kirk

Provider: MetBioNet
Posted: 22-Jun-2012, Date for Routine Review: 22-Jun-2017

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01 METHODS - MOLECULAR GENETICS
MOLECULAR GENETICS
Applications of Next generation DNA sequencing in Newborn Screening
[Introductory Level]

Provider: Sheffield Children's Hospital NHS Foundation Trust
Posted: 17-Jul-2014, Date for Routine Review: 17-Jul-2019

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MOLECULAR GENETICS
GSD diagnosis – can liver biopsy be avoided?
[Advanced Level]

Provider: MetBio
Posted: 1-Apr-2005, Date for Routine Review: 1-Apr-2010

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MOLECULAR GENETICS
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

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01 METHODS - MONO & DISACCHARIDES
MONO & DISACCHARIDES
Galactosaemia and Immunoreactive Trypsin
[Intermediate Level]

Provider: MetBio
Posted: 1-Apr-2005, Date for Routine Review: 1-Apr-2010

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01 METHODS - MUCOPOLYSACCHARIDES
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

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01 METHODS - NEWBORN SCREENING
NEWBORN SCREENING
Basic training module in Newborn Screening
[Introductory Level]

Provider: MetBio
Posted: 5-Sep-2009, Date for Routine Review: 5-Sep-2014

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NEWBORN SCREENING
Newborn Screening for Congenital Hypothyroidism
[Intermediate Level]

Newborn Screening for Congenital Hypothyroidism

Leslie Tetlow

Provider: MetBioNet
Posted: 22-Jun-2012, Date for Routine Review: 22-Jun-2017

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NEWBORN SCREENING
Newborn Screening for MCADD Deficiency: Experience of a Pilot QA Scheme
[Intermediate Level]
Quality Day

Provider: MetBio
Posted: 1-Oct-2006, Date for Routine Review: 1-Oct-2011

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NEWBORN SCREENING
Tandem Mass Spectrometry

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

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01 METHODS - 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

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OLIGOSACCHARIDES
Oligosaccharide Analysis
[Introductory Level]
A review of current methods used in IMD labs for oligosaccharide analysis.

Provider: MetBioNet
Posted: 24-Jun-2011, Date for Routine Review: 24-Jun-2016

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01 METHODS - ORGANIC ACIDS
ORGANIC ACIDS
GC-MS

Presentation from MetBioNet BMS training group workshop. Bristol 28/04/15.

Heather Wheatley, University Hospital Wales. GCMS in the Metabolic Laboratory'

Provider: MetBioNet
Posted: 27-May-2015, Date for Routine Review: 27-May-2020

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ORGANIC ACIDS
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

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ORGANIC ACIDS
Urinary Acylglycine LC-MSMS methods. Analytical concerns & clinical use
[Advanced Level]
Urinary Acylglycine LC-MSMS methods. Analytical concerns & clinical use

Provider: MetBioNet
Posted: 24-Jan-2012, Date for Routine Review: 24-Jan-2017

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ORGANIC ACIDS
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

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01 METHODS - OTHERS
OTHERS
Diagnosis of CDG Enzyme Analysis and Other Investigations
[Intermediate Level]

Provider: MetBio
Posted: 1-Apr-2005, Date for Routine Review: 1-Apr-2010

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OTHERS
Introduction to the British Mass Spectrometry Society
Introduction to the British Mass Spectrometry Society

Provider: MetBioNet
Posted: 24-Jan-2012, Date for Routine Review: 24-Jan-2017

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OTHERS
Key aspects of mass spectrometry
[Introductory Level]
Royal College of Pathologists

Provider: Royal College of Pathologists
Posted: 18-Jan-2012, Date for Routine Review: 30-Jan-2016

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OTHERS
Mass Spectrometry in Clinical Chemistry
[Introductory Level]

Mass Spectrometry in Clinical Chemistry

David Hardy

Provider: MetBioNet
Posted: 22-Jun-2012, Date for Routine Review: 24-Jun-2016

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01 METHODS - PORPHYRINS
PORPHYRINS
Porphyrin methodology
[Intermediate Level]

Provider: MetBio
Posted: 1-Jun-2006, Date for Routine Review: 1-Jun-2011

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PORPHYRINS
The Role Of Mutation Analysis in Porphyria
[Advanced Level]

Provider: MetBio
Posted: 1-Jun-2006, Date for Routine Review: 1-Jun-2011

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01 METHODS - PURINES & PYRIMIDINES
PURINES & PYRIMIDINES
Quantitative analysis of Orotic Acid by LC-MS/MS
[Advanced Level]
Quantitative analysis of Orotic Acid by LC-MS/MS

Provider: MetBioNet
Posted: 24-Jan-2012, Date for Routine Review: 24-Jan-2017

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01 METHODS - QUALITY ASSURANCE
QUALITY ASSURANCE
Clinical Introduction
[Intermediate Level]

Provider: Sheffield Children's NHS Foundation Trust
Posted: 25-May-2016, Date for Routine Review: 25-May-2021

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QUALITY ASSURANCE
Ensuring Quality in the Absence of EQA

Provider: MetBioNet
Posted: 27-Jan-2011, Date for Routine Review: 27-Jan-2016

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QUALITY ASSURANCE
ERNDIM Update 2011

Provider: MetBioNet
Posted: 27-Jan-2011, Date for Routine Review: 27-Jan-2016

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QUALITY ASSURANCE
Innovations from Birmingham Quality (UK NEQAS Birmingham) for Newborn Screening

Provider: MetBioNet
Posted: 27-Jan-2011, Date for Routine Review: 27-Jan-2016

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QUALITY ASSURANCE
Possible Solutions to Lack of External Quality Assurance

Provider: MetBioNet
Posted: 27-Jan-2011, Date for Routine Review: 27-Jan-2016

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QUALITY ASSURANCE
Quality and uncertainty in screening assays from taking the sample to issuing the result
[Intermediate Level]

Provider: Sheffield Children's NHS Foundation Trust
Posted: 25-May-2016, Date for Routine Review: 25-May-2021

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QUALITY ASSURANCE
The concept of uncertainty of measurement from a lab perspective interfacing with clinical users
[Intermediate Level]

Provider: Viapath
Posted: 25-May-2016, Date for Routine Review: 25-May-2021

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QUALITY ASSURANCE
The use & benefit of cognitive & interpretative quality assurance schemes

Provider: MetBioNet
Posted: 27-Jan-2011, Date for Routine Review: 27-Jan-2016

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QUALITY ASSURANCE
Uncertainty applied to monitoring, particularly in relation to PKU and MSUD
[Intermediate Level]

Provider: GOSH
Posted: 25-May-2016, Date for Routine Review: 25-May-2021

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QUALITY ASSURANCE
Uncertainty in diagnostic metabolite assays - white cell cystines as an example
[Intermediate Level]

Provider: Leeds/Manchester
Posted: 25-May-2016, Date for Routine Review: 25-May-2021

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QUALITY ASSURANCE
Uncertainty in enzyme assays
[Intermediate Level]

Provider: Viapath
Posted: 25-May-2016, Date for Routine Review: 25-May-2021

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QUALITY ASSURANCE
Uncertainty in qualitative assays based on the organic acid ERNDIM scheme
[Intermediate Level]

Provider: Sheffield Children's NHS Foundation Trust
Posted: 25-May-2016, Date for Routine Review: 25-May-2021

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QUALITY ASSURANCE
Uncertainty in qualitative schemes based on the ERNDIM DPT scheme results
[Intermediate Level]

Provider: Sheffield Children's NHS Foundation Trust
Posted: 25-May-2016, Date for Routine Review: 25-May-2021

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QUALITY ASSURANCE
Uncertainty of measurement in relation to monitoring of amino acids in PKU, MSUD, HT and HCU
[Intermediate Level]

Provider: Great Ormond Street
Posted: 15-Jun-2016, Date for Routine Review: 15-Jun-2021

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01 METHODS - VERY LONG CHAIN FATTY ACIDS
VERY LONG CHAIN FATTY ACIDS
Development of an Ultra High Pressure Liquid Chromatography-Tandem Mass Spectrometry screening method for X-linked adrenoleucodystrophy
[Advanced Level]
Development of an Ultra High Pressure Liquid Chromatography-Tandem Mass Spectrometry screening method for X-linked adrenoleucodystrophy

Provider: MetBioNet
Posted: 24-Jan-2012, Date for Routine Review: 24-Jan-2017

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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.