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| 37540500 | Beyond genetics: Deciphering the impact of missense variants in CAD deficiency. | J Inherit Metab Dis | 2023 |
| 36357165 | Homozygous truncating variant in <i>MAN2A2</i> causes a novel congenital disorder of glycosylation with neurological involvement. | J Med Genet | 2023 |
| 36214423 | DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype. | J Inherit Metab Dis | 2023 |
| 36423686 | GLUT1 is a highly efficient L-fucose transporter. | Journal of Biological Chemistry | 2023 |
| 37711075 | Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. | J Inherit Metab Dis | 2023 |
| 36719165 | Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation. | J Inherit Metab Dis | 2023 |
| 36651831 | Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association. | J Inherit Metab Dis | 2023 |
| 37461317 | Metabolic clogging of mannose triggers dNTP loss and genomic instability in human cancer cells. | | 2023 |
| 36636598 | The Swedish COG6-CDG experience and a comprehensive literature review. | | 2023 |
| 35242569 | Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature. | Molecular Genetics and Metabolism Reports | 2022 |
| 36209585 | Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells. | Biochemical and Biophysical Research Communications | 2022 |
| 35932216 | A recurrent homozygous missense DPM3 variant leads to muscle and brain disease. | Clin Genet | 2022 |
| 35790351 | Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. | J Med Genet | 2022 |
| 36053214 | Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions. | Journal of Cell Biology | 2022 |
| 36393834 | COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells. | Front Cell Dev Biol | 2022 |
| 35716054 | ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines. | J Inherit Metab Dis | 2022 |
| 35338706 | CDG or not CDG. | J Inherit Metab Dis | 2022 |
| 34788024 | Chemical Therapies for Congenital Disorders of Glycosylation. | ACS Chemical Biology | 2022 |
| 35262690 | CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking. | Hum Mol Genet | 2022 |
| 34595172 | A Dominant Heterozygous Mutation in Causes Saul-Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling. | Frontiers in Cell and Developmental Biology | 2021 |
| 34173795 | Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review. | Journal of Pediatric Gastroenterology and Nutrition | 2021 |
| 33964207 | A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. | Am J Hum Genet | 2021 |
| 33632285 | Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study. | Orphanet J Rare Dis | 2021 |
| 33583022 | Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. | J Inherit Metab Dis | 2021 |
| 33576051 | Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation? | Epilepsia | 2021 |
| 33734437 | ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. | J Inherit Metab Dis | 2021 |
| 34245688 | SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy. | Clin Chim Acta | 2021 |
| 33373330 | Evolutionary conservation of human ketodeoxynonulosonic acid production is independent of sialoglycan biosynthesis. | J Clin Invest | 2021 |
| 32681750 | International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. | J Inherit Metab Dis | 2021 |
| 34567092 | ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele. | Front Genet | 2021 |
| 34784297 | Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis. | JCI Insight | 2021 |
| 34659374 | Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele. | Frontiers in Genetics | 2021 |
| 34653363 | Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. | Am J Hum Genet | 2021 |
| 31398011 | Therapeutic Monosaccharides: Looking Back, Moving Forward. | Biochemistry | 2020 |
| 31949312 | Defining the clinical phenotype of Saul-Wilson syndrome. | Genet Med | 2020 |
| 32395830 | Mutations in GET4 disrupt the transmembrane domain recognition complex pathway. | J Inherit Metab Dis | 2020 |
| 32049367 | Expanding the molecular and clinical phenotypes of FUT8-CDG. | Journal of Inherited Metabolic Disease | 2020 |
| 31815737 | XMEN: welcome to the glycosphere. | Journal of Clinical Investigation | 2020 |
| 32039448 | A mutation map for human glycoside hydrolase genes. | Glycobiology | 2020 |
| 32461667 | Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. | Genet Med | 2020 |
| 33204592 | MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature. | JIMD Reports | 2020 |
| 32938718 | Biosynthesis of GlcNAc-rich - and -glycans in the Golgi apparatus does not require the nucleotide sugar transporter SLC35A3. | Journal of Biological Chemistry | 2020 |
| 30770273 | Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation. | Pediatr Neurol | 2019 |
| 31875565 | N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity. | Cell Reports | 2019 |
| 31656755 | Improving biochemical markers for disorders of N-glycosylation. | Annals of Translational Medicine (discontinued) | 2019 |
| 30117111 | DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. | JIMD Rep | 2019 |
| 30817854 | SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. | Hum Mutat | 2019 |
| 30701557 | Factor VIII and vWF deficiency in STT3A-CDG. | Journal of Inherited Metabolic Disease | 2019 |
| 30746764 | Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients. | J Inherit Metab Dis | 2019 |
| 30740725 | International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. | J Inherit Metab Dis | 2019 |