Previous Garrod Awardees
2024
Dr Mattias Lissing
Stockholm, Sweden
Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals
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2023
Dr Jun Kido
Kumamoto, Japan
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan
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2022
PD Dr Med Friederike Hörster
Heidelberg, Germany
Delineating the clinical spectrum of isolatedmethylmalonic acidurias: cblA and mut
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2021
Prof Laurence Bindoff
Bergen, Norway
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
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J Inherit Metab Dis. 2021; 43(4): 726-736 doi: 10.1002/
2020
Dr R Spiegel
Afula, Israel
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
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J Inherit Metab Dis. 2019; 42(2): 264-275 doi: 10.1002/
Epub 2018 Mar 8; 2018 Jul;41(4):689-698. doi: 10.1007/s10545-018-0157-4
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
2009
Prof Dr Ute Spiekerkoetter
Dusseldorf, Germany
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects:results from a workshop