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Human Molecular Genetics|April 12, 2012
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencingSharita Timal, Alexander Hoischen, Ludwig Lehle, et al.
The Journal of Clinical Endocrinology and Metabolism|March 23, 2019
Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride ContentNynke Simons, François-Guillaume Debray, Nicolaas C Schaper, et al.
Orphanet Journal of Rare Diseases|November 20, 2014
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosisMohamed A Elmonem, Samuel H Makar, Lambertus van den Heuvel, et al.
Journal of Inherited Metabolic Disease|August 14, 2021
Congenital disorders of glycosylation with defective fucosylationAndreas Hüllen, Kristina Falkenstein, Corina Weigel, et al.
Chemistry & Biology|December 22, 2015
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-MannosylationMoniek Riemersma, D Sean Froese, Walinka van Tol, et al.
Human Molecular Genetics|April 11, 2015
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, et al.
Glycobiology|December 23, 2021
Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogsMonique van Scherpenzeel, Federica Conte, Christian Büll, et al.
Molecular Genetics and Metabolism|December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spotsFederica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Genome Medicine|February 7, 2025
Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain SignificanceIrena Josephina Johanna Muffels, Hans R Waterham, Giuseppina D'Alessandro, et al.
Human Mutation|February 19, 2013
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)Yu Sun, Rowida Almomani, Guido J Breedveld, et al.
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