Training Case Reports


Case Study Template

 

 

 

 

 

 

 

 

 

 

 

 

Training Case Reports

Training Case Reports

These Case Reports were originally created by trainees in metabolic disease as part of their training. They are based on their experiences in the laboratory and show the difficulties as well as the structured approach to diagnosis.

We now invite any professional (trainee or otherwise) who has  a Case Report which they believe may be helpful to trainees to download the Case Study Template on the left and submit a draft. The reports need not necessarily be about unusual or exotic cases. Simple cases can often be very helpful and informative. All personal patient details should be removed. Please forward the draft to George Gray (Contact details in the Case Report Template).

A Case of Galactosaemia with an Atypical Presentation

Provider: MetBio
Posted: 1-Jun-2007, Expires: 1-Jun-2019, Contact: MetBio

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A Case of Guanidinoacetate Methyltransferase (GAMT) Deficiency

Provider: BIMDG
Posted: 1-Jun-2009, Expires: 1-Jun-2019, Contact: MetBio

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A Case of Isolated Glycerol Kinase Deficiency

Provider: MetBio
Posted: 1-Jun-2009, Expires: 1-Jun-2019, Contact: MetBio

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A Case of Metabolic Acidosis

Provider: ACB
Posted: 5-Jul-2011, Expires: 15-Jul-2015, Contact: MetBioNet

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A Case of Neonatal Hyperammonaemia

Provider: MetBioNet
Posted: 27-May-2011, Expires: 20-May-2015, Contact: MetBioNet

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A Diagnosis Of Cystinosis

Provider: MetBio
Posted: 1-Jun-2009, Expires: 1-Jun-2019, Contact: MetBio

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Adult Inherited Metabolic Disease: X-ALD presenting as Idiopathic Addison's Disease

Provider: MetBio
Posted: 1-Jun-2009, Expires: 1-Jun-2019, Contact: MerBio

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Developmental Delay and Inherited Metabolic Disease

Provider: ACB
Posted: 20-Dec-2011, Expires: 24-Dec-2014, Contact: Caroline Griffith

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Investigations of a Hypoglycaemic Infant

Provider: ACB
Posted: 27-Jun-2011, Expires: 26-Jun-2015, Contact: MetBioNet

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Copyright Disclaimer

Copyright for these reports remain the property of MetBioNet. Every effort has been taken to maintain anonymity of the patients involved, however very rare conditions inevitably affect only limited numbers of individuals. Whilst the metabolic biochemistry network has taken every effort to provide accurate and up to date information for this website the stakeholders accept no liability or responsibility for the accuracy or completeness of any information on this site.