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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 |