Previous Awardees
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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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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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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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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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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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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J Inherit Metab Dis. 2013;36:859-68
2013
Dr SE Waisbren
Boston, USA
The adult galactosemic phenotype.
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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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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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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
2009
Prof Dr Ute Spiekerkoetter
Dusseldorf, Germany
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects:results from a workshop