SOCIETY FOR THE STUDY
OF INBORN ERRORS OF METABOLISM

Symposium Travel Scholarship Application

OPENING DATE

Applications will be accepted between 02 Feb 2019 and 30-Mar-2019 (Midnight GMT)

Symposium Travel Scholarship Application

Please read requirements shown below and ensure you have all the documents ready before proceeding

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Guidelines Development Support

SSIEM announces as a new initiative the support for guideline development.

SSIEM members interested in this should follow the application process in the attached form.

Please submit the completed form at any time to the Honorary Secretary SSIEM. Your proposal will be evaluated by a committee from SSIEM Council members. The final decision will be made at the next forthcoming Council meeting (these meetings are held each in March, July, September, and December) and thereafter communicated to you.

Application form

Contact SSIEM Honorary Secretary

 

2020

Approved 23 March

Ute Spiekerkötter
Consensus Guideline for the diagnosis and management of long-chain fatty acid oxidation defects
€ 20,000.00

 

2019

Approved 3 September

Patrick Forny & Matthias Baumgartner
Update MMA/PA Guidelines
€ 10,000.00

Approved 6 July

Samuel Gröschel
European Reference Network for Rare Neurological Disorders task force to develop a guideline for Metachromatic Leukodystrophy. MDL Guideline
€ 20,000.00

Previous Awardees

 

johannes haeberlebp 8878 new   2019

Prof Dr Med Johannes Haberle 
Zurich
Switzerland

The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders
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Additional Information

Epub 2018 Mar 8; 2018 Jul;41(4):689-698. doi: 10.1007/s10545-018-0157-4

 

 

 

  2018

Ass Prof Melanie Gillingham
Portland
USA

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded randomized controlled trial
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Additional Information

J Inherit Metab Dis. 2017; 40:831–843

 

 

  2017

Dr Terry Derks
Groningen
The Netherlands

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
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Additional Information

J Inherit Metab Dis. 2016; 39:697-704

 

 

  2016

Prof Shamima Rahman
London
United Kingdom

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
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Additional Information

J Inherit Metab Dis. 2015; 38:445-457

 

 

  2015

Dr Yannis Trakadis
Montreal
Canada

Update on transcobalamin deficiency: clinical presentation, treatment and outcome
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Additional Information

J Inherit Metab Dis. 2014; 37:461-473

 

 

  2014

Dr F Sedel
Paris
France

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
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Additional Information
J Inherit Metab Dis. 2013;36:859-68

 

 

  2013

Dr SE Waisbren
Boston
USA

The adult galactosemic phenotype.
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Additional Information
J Inherit Metab Dis. 2012;35:279-86

 

 

  2012

Dr M del Socorro Perez Poyato
Barcelona
Spain

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
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Additional Information
J Inherit Metab Dis. 2011;34:1083-93

 

 

  2011

Prof Dr F A Wijburg
Amsterdam
The Netherlands

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
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Additional Information
J Inherit Metab Dis. 2010;33:759–67

 

 

  2010

Dr Friederike H�rster
Heidelberg
Germany

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
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  2009

Prof Dr Ute Spiekerkoetter
Dusseldorf
Germany

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects:results from a workshop
Download Publication

 

Membership

Membership of the Society is open to all interested in and willing to support the aims of the Society.

 Membership 2021      User Profile

 

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Society for the Study of Inborn
Errors of Metabolism (SSIEM)
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South Croydon, CR2 1PN 
United Kingdom

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The Society for Study of Inborn Errors of Metabolism, C/O Stone King LLP,
Boundary House,
91 Charterhouse Street,
London, United Kingdom, EC1M 6HR

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