Previous Garrod Awardees
2023
Dr Jun Kido
Kumamoto, Japan
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan
Additional Information
2022
PD Dr Med Friederike Hörster
Heidelberg, Germany
Delineating the clinical spectrum of isolatedmethylmalonic acidurias: cblA and mut
Additional Information
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
Download Publication
Additional Information
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
Download Publication
Additional Information
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
Download Publication
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
Download Publication
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.
Download Publication
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.
Download Publication
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
Download Publication
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.
Download Publication
Additional Information
J Inherit Metab Dis. 2013;36:859-68
2013
Dr SE Waisbren
Boston, USA
The adult galactosemic phenotype.
Download Publication
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.
Download Publication
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.
Download Publication
Additional Information
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