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| 37520696 | Impact of infection on proteome-wide glycosylation revealed by distinct signatures for bacterial and viral pathogens. | iScience | 2023 |
| 36088537 | Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit. | Journal of Inherited Metabolic Disease | 2023 |
| 36148702 | Passive shoulder exoskeleton support partially mitigates fatigue-induced effects in overhead work. | Applied Ergonomics | 2023 |
| 37650222 | Sialic acid biosynthesis pathway blockade disturbs neuronal network formation in human iPSC-derived excitatory neurons. | | 2023 |
| 37683725 | Plasma glycoproteomics delivers high-specificity disease biomarkers by detecting site-specific glycosylation abnormalities. | | 2023 |
| 37341384 | Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism. | | 2023 |
| 36651519 | MOGS-CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub> Man tetrasaccharide and clinical spectrum of six new cases. | J Inherit Metab Dis | 2023 |
| 37340906 | Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study. | | 2023 |
| 36768261 | Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes. | | 2023 |
| 36951087 | Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency. | | 2023 |
| 37390204 | -acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function. | | 2023 |
| 36946697 | Glia-neuron coupling via a bipartite sialylation pathway promotes neural transmission and stress tolerance in <i>Drosophila</i>. | Elife | 2023 |
| 37259115 | Relevance of hazards in exoskeleton applications: a survey-based enquiry. | | 2023 |
| 37443799 | Isotopic Tracing of Nucleotide Sugar Metabolism in Human Pluripotent Stem Cells. | | 2023 |
| 37239976 | Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review. | Int J Mol Sci | 2023 |
| 37175952 | In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis. | | 2023 |
| 37175577 | The GlycoPaSER Prototype as a Real-Time N-Glycopeptide Identification Tool Based on the PaSER Parallel Computing Platform. | | 2023 |
| 34939087 | Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs. | Glycobiology | 2022 |
| 35527402 | Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia. | Journal of Inherited Metabolic Disease | 2022 |
| 35506430 | How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. | J Inherit Metab Dis | 2022 |
| 35422047 | CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model. | Nature Communications | 2022 |
| 35603178 | Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation. | Frontiers in Immunology | 2022 |
| 37089696 | Analysis of hemopexin plasma levels in patients with age-related macular degeneration. | Mol Vis | 2022 |
| 34626841 | Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115. | Cell Mol Gastroenterol Hepatol | 2022 |
| 35290183 | An Occupational Shoulder Exoskeleton Reduces Muscle Activity and Fatigue During Overhead Work. | IEEE Transactions on Biomedical Engineering | 2022 |
| 34559629 | Human Musculoskeletal and Energetic Adaptations to Unilateral Robotic Knee Gait Assistance. | IEEE Transactions on Biomedical Engineering | 2022 |
| 34382076 | De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. | Brain | 2022 |
| 34695439 | Loss of the AMD-associated B3GLCT gene affects glycosylation of TSP1 without impairing secretion in retinal pigment epithelial cells. | Experimental Eye Research | 2021 |
| 33808626 | Integration of 3D Printed Flexible Pressure Sensors into Physical Interfaces for Wearable Robots. | Sensors | 2021 |
| 33907369 | Increased pro-MMP9 plasma levels are associated with neovascular age-related macular degeneration and with the risk allele of rs142450006 near <i>MMP9</i>. | Mol Vis | 2021 |
| 33743737 | D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial. | Orphanet Journal of Rare Diseases | 2021 |
| 34163424 | NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum. | Front Neurol | 2021 |
| 34043338 | Structure-Activity Relationship of Fluorinated Sialic Acid Inhibitors for Bacterial Sialylation. | Bioconjugate Chemistry | 2021 |
| 33878388 | Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look. | Biochimica et Biophysica Acta - General Subjects | 2021 |
| 34258226 | The fate of orally administered sialic acid: First insights from patients with <i>N</i>-acetylneuraminic acid synthase deficiency and control subjects. | Mol Genet Metab Rep | 2021 |
| 34143952 | Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation. | Am J Hum Genet | 2021 |
| 34251291 | Examining the Distribution and Impact of Single-Nucleotide Polymorphisms in the Capsular Locus of Streptococcus pneumoniae Serotype 19A. | Infection and Immunity | 2021 |
| 33349924 | Mimicking Behçet's disease: GM-CSF gain of function mutation in a family suffering from a Behçet's disease-like disorder marked by extreme pathergy. | Clinical and Experimental Immunology | 2021 |
| 32681750 | International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. | J Inherit Metab Dis | 2021 |
| 33336886 | Cellular Fucosylation Inhibitors Based on Fluorinated Fucose-1-phosphates*. | Chemistry - A European Journal | 2021 |
| 34389986 | Congenital disorders of glycosylation with defective fucosylation. | J Inherit Metab Dis | 2021 |
| 34711829 | Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5. | Nature Communications | 2021 |
| 34653363 | Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. | Am J Hum Genet | 2021 |
| 34759807 | Improved Motion Classification With an Integrated Multimodal Exoskeleton Interface. | Frontiers in Neurorobotics | 2021 |
| 32557671 | Screening for abnormal glycosylation in a cohort of adult liver disease patients. | Journal of Inherited Metabolic Disease | 2020 |
| 32080367 | An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase. | Eur J Hum Genet | 2020 |
| 31800099 | Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations. | Journal of Inherited Metabolic Disease | 2020 |
| 32424323 | SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card. | Eur J Hum Genet | 2020 |
| 32313197 | Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability. | Journal of Human Genetics | 2020 |
| 31957011 | Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction. | Clinical Genetics | 2020 |