Presentations

Please email the Lead Trainer through the Contacts Link if you have any queries about the presentations

02 DISORDERS - CARBOHYDRATE
CARBOHYDRATE
Citrin Deficiency - The "chubby baby" story
[Intermediate Level]

Citrin Deficiency - The "chubby baby" story

Fiona Carragher

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

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CARBOHYDRATE
Deficiencies of Disaccharidases
[Introductory Level]

Dr Tim Hutchin, Principal Clinical Scientist, Birmingham Childrens Hospital

A presentation given to trainees in laboratory IMD in October 2010

Provider: MetBioNet
Posted: 21-Jan-2011, Date for Routine Review: 21-Jan-2016

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CARBOHYDRATE
Disorders of galactose and fructose metabolism
[Introductory Level]

Mary Anne Preece, Consultant Clinical Biochemist, Birmingham Childrens Hospital

A presentation given to trainees in laboratory IMD in October 2010

Provider: MetBioNet
Posted: 21-Jan-2011, Date for Routine Review: 21-Jan-2016

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CARBOHYDRATE
DNA Analysis in the Glycogen Storage Diseases
[Advanced Level]

Dr Nick Beauchamp, Sheffield Childrens Hospital

A presentation given to trainees in laboratory IMD in October 2010 and at the meeting at GOSH on Glycogen on 2 February 2011

Provider: GOSH
Posted: 2-Aug-2011, Date for Routine Review: 2-Aug-2016

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CARBOHYDRATE
Glycogen Metabolism
[Introductory 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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CARBOHYDRATE
Glycogen Storage Diseases-Clinical Presentation and Treatment
[Introductory Level]

Dr Pat McKiernan, Consultant Paediatric Hepatologist, Birmingham Childrens Hospital

A presentation given to trainees in laboratory IMD in October 2010

Provider: MetBioNet
Posted: 21-Jan-2011, Date for Routine Review: 21-Jan-2016

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CARBOHYDRATE
Glycogen Storage Disorders The role of biochemistry in diagnosis
[Intermediate Level]

Katie Bainbridge, Principal Clinical Biochemist, Great Ormond Street Hospital

 A presentation given to trainees in laboratory IMD in October 2010.

Provider: MetBioNet
Posted: 21-Jan-2011, Date for Routine Review: 21-Jan-2016

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CARBOHYDRATE
Management of an Adult with GSD1a
[Intermediate Level]

Provider: GOSH
Posted: 5-Sep-2011, Date for Routine Review: 5-Sep-2016

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CARBOHYDRATE
Non-Lysosomal Glycogen Storage Disorders-Biochemical Diagnosis
[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

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02 DISORDERS - FATTY ACID OXIDATION
FATTY ACID OXIDATION
Fat oxidation and defects of the mitochondrial respiratory chain
[Intermediate Level]

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

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FATTY ACID OXIDATION
Fatty Acid Oxidation Disorders-an update
[Intermediate Level]

Fatty Acid Oxidation Disorders-an update

Fiona Carragher

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

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02 DISORDERS - LYSOSOMAL
LYSOSOMAL
Clinical Aspects of Pompes
[Introductory Level]

Presented at a meeting on 2/2/11 at GOSH on "Glycogen-Biochemical,Clinical & Diagnostic Aspects"

Provider: GOSH
Posted: 16-Aug-2011, Date for Routine Review: 16-Aug-2016

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02 DISORDERS - NEUROTRANSMITTER DISORDERS
NEUROTRANSMITTER DISORDERS
Disorders of Dopamine and Serotonin
[Introductory Level]

Provider: MetBio
Posted: 1-May-2007, Date for Routine Review: 1-May-2012

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02 DISORDERS - PEROXISOMAL
PEROXISOMAL
Peroxisomal disorders
[Introductory Level]

Provider: MetBio
Posted: 1-Jul-2003, Date for Routine Review: 1-Jul-2008

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02 DISORDERS - PERSONAL PATIENT EXPERIENCES
PERSONAL PATIENT EXPERIENCES
Pompes Disease - My Journey

Presented at a meeting on 2/2/11 at GOSH on "Glycogen-Biochemical,Clinical & Diagnostic Aspects"

Provider: GOSH
Posted: 16-Aug-2011, Date for Routine Review: 16-Aug-2016

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02 DISORDERS - PORPHYRIA
PORPHYRIA
Introduction and Clinical Aspects of Porphyria

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

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02 DISORDERS - RESPIRATORY CHAIN
RESPIRATORY CHAIN
Mitochondrial Diseases Due To Nuclear Gene Defects
[Intermediate Level]

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

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RESPIRATORY CHAIN
Mitochondrial DNA Disease: Clinical and histochemical features
[Intermediate Level]

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

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RESPIRATORY CHAIN
Presentation and investigation of mitochondrial disease in children
[Intermediate Level]

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

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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.