SOCIETY FOR THE STUDY
OF INBORN ERRORS OF METABOLISM

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 Hörster
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

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

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Society for the Study of Inborn
Errors of Metabolism (SSIEM)
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