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Journal of Inherited Metabolic Disease|July 3, 2024
Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. Melanogaster model of classic galactosemiaJennifer M I Daenzer, Jared J Druss, Judith L Fridovich-KeilJournal of Inherited Metabolic Disease|July 20, 2024
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registryDerralynn A Hughes, Gere Sunder-Plassmann, Ana Jovanovic, et al.Journal of Inherited Metabolic Disease|June 14, 2024
Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?Viktor Kožich, Tomas MajtanJournal of Inherited Metabolic Disease|April 11, 2024
Altered neural oscillations in classical galactosaemia during sentence productionSara Mazzini, Sai Yadnik, Inge Timmers, et al.Journal of Inherited Metabolic Disease|September 8, 2023
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screeningJun Kido, Johannes Häberle, Toju Tanaka, et al.Journal of Inherited Metabolic Disease|August 31, 2023
Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patientsMattias Lissing, Axel Wester, Daphne Vassiliou, et al.Journal of Inherited Metabolic Disease|August 9, 2023
Integrative omics approaches to advance rare disease diagnosticsDmitrii Smirnov, Nikita Konstantinovskiy, Holger ProkischJournal of Inherited Metabolic Disease|January 18, 2024
Drosophila melanogaster models of MPS IIIC (Hgsnat-deficiency) highlight the role of glia in disease presentationLaura Hewson, Amanda Choo, Dani L Webber, et al.Journal of Inherited Metabolic Disease|January 11, 2024
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylateSander F Garrelfs, Serhii Chornyi, Heleen Te Brinke, et al.Journal of Inherited Metabolic Disease|December 19, 2023
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs diseaseJitka Májovská, Igor Nestrašil, Alia Ahmed, et al.Pageof 429