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Journal of Inherited Metabolic Disease|June 9, 2020
Cognitive functioning and depressive symptoms in Fabry disease: A follow-up studySimon Körver, Gert J Geurtsen, Carla E M Hollak, et al.Journal of Inherited Metabolic Disease|September 9, 2021
Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophyAshish O Gupta, David R Nascene, Ryan Shanley, et al.Journal of Inherited Metabolic Disease|August 23, 2021
Mechano-energetic aspects of Barth syndromeJan Dudek, Christoph MaackJournal of Inherited Metabolic Disease|May 9, 2020
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial diseaseZheng Yie Yap, Klaudia Strucinska, Satoshi Matsuzaki, et al.Journal of Inherited Metabolic Disease|May 12, 2020
Opportunities and challenges for antisense oligonucleotide therapiesElsa C Kuijper, Atze J Bergsma, W W M Pim Pijnappel, et al.Journal of Inherited Metabolic Disease|June 20, 2020
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndromePippa Staps, William B Rizzo, Frédéric M Vaz, et al.Journal of Inherited Metabolic Disease|November 13, 2022
Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduriaCharlotte Ramon, Florian Traversi, Céline Bürer, et al.Journal of Inherited Metabolic Disease|February 11, 2005
Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick diseaseJ Brinkman, F A Wijburg, C E Hollak, et al.Journal of Inherited Metabolic Disease|February 11, 2005
Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramideP D Whitfield, J Calvin, S Hogg, et al.Journal of Inherited Metabolic Disease|February 19, 2004
Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IXJ Cabrera-Abreu, N J Crabtree, E Elias, et al.Pageof 429