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
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.
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
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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 Download Publication Additional Information Epub 2018 Mar 8; 2018 Jul;41(4):689-698. doi: 10.1007/s10545-018-0157-4 |
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2018 Ass Prof Melanie Gillingham Portland USA Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded randomized controlled trial Download Publication Additional Information J Inherit Metab Dis. 2017; 40:831–843 |
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2017 Dr Terry Derks Groningen The Netherlands Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. Download Publication Additional Information J Inherit Metab Dis. 2016; 39:697-704 |
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2016 Prof Shamima Rahman London United Kingdom Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. Download Publication Additional Information J Inherit Metab Dis. 2015; 38:445-457 |
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2015 Dr Yannis Trakadis Montreal Canada Update on transcobalamin deficiency: clinical presentation, treatment and outcome Download Publication Additional Information J Inherit Metab Dis. 2014; 37:461-473 |
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2014 Dr F Sedel Paris France Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. Download Publication Additional Information J Inherit Metab Dis. 2013;36:859-68 |
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2013 Dr SE Waisbren Boston USA The adult galactosemic phenotype. Download Publication Additional Information J Inherit Metab Dis. 2012;35:279-86 |
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2012 Dr M del Socorro Perez Poyato Barcelona Spain Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. Download Publication Additional Information J Inherit Metab Dis. 2011;34:1083-93 |
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2011 Prof Dr F A Wijburg Amsterdam The Netherlands Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. Download Publication Additional Information J Inherit Metab Dis. 2010;33:759–67 |
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2010 Dr Friederike H�rster Heidelberg Germany Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters Download Publication |
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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 |