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Neuropediatrics|February 3, 2015
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndromeSaskia B Wortmann, Peter M van Hasselt, Ivo Barić, et al.
The Journal of Clinical Investigation|December 26, 2024
Tagless LysoIP for immunoaffinity enrichment of native lysosomes from clinical samplesDaniel Saarela, Pawel Lis, Sara Gomes, et al.
Journal of Inherited Metabolic Disease|January 6, 2025
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort StudyBerith M Balfoort, Filip Van den Broeck, Camiel J F Boon, et al.
American Journal of Human Genetics|March 19, 2024
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivationShreyas Bhat, Justine Rousseau, Coralie Michaud, et al.
The New England Journal of Medicine|November 13, 2014
Monocarboxylate transporter 1 deficiency and ketone utilizationPeter M van Hasselt, Sacha Ferdinandusse, Glen R Monroe, et al.
Journal of Inherited Metabolic Disease|February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patientsMari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
The Journal of Clinical Investigation|February 14, 2017
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorderNoa Lipstein, Nanda M Verhoeven-Duif, Francesco E Michelassi, et al.
American Journal of Human Genetics|January 7, 2023
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegenerationIrena J J Muffels, Imre F Schene, Holger Rehmann, et al.
Gastroenterology|April 15, 2014
Loss of syntaxin 3 causes variant microvillus inclusion diseaseCaroline L Wiegerinck, Andreas R Janecke, Kerstin Schneeberger, et al.
Journal of Inherited Metabolic Disease|February 15, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomesJeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.
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