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| 37597336 | Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation. | Mol Genet Metab | 2023 |
| 37258485 | Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder. | Clin Chem | 2023 |
| 37275682 | Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III. | Mol Genet Metab Rep | 2023 |
| 36965289 | Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation. | Mol Genet Metab | 2023 |
| 36651831 | Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association. | J Inherit Metab Dis | 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 |
| 34626841 | Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115. | Cell Mol Gastroenterol Hepatol | 2022 |
| 35790351 | Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. | J Med Genet | 2022 |
| 35780510 | A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic. | Clin Chem | 2022 |
| 35716054 | ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines. | J Inherit Metab Dis | 2022 |
| 35104856 | Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome. | Clin Chem | 2022 |
| 34143952 | Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation. | Am J Hum Genet | 2021 |
| 33734437 | ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. | J Inherit Metab Dis | 2021 |
| 33583022 | Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. | J Inherit Metab Dis | 2021 |
| 33632285 | Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study. | Orphanet J Rare Dis | 2021 |
| 34567092 | ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele. | Front Genet | 2021 |
| 34007276 | LncRNA PCNAP1 Promotes Hepatoma Cell Proliferation through Targeting miR-340-5p and is Associated with Patient Survival. | J Oncol | 2021 |
| 32566017 | Long non-coding RNA SNHG7 inhibits NLRP3-dependent pyroptosis by targeting the miR-34a/SIRT1 axis in liver cancer. | Oncol Lett | 2020 |
| 31775018 | Defining a new immune deficiency syndrome: MAN2B2-CDG. | J Allergy Clin Immunol | 2020 |
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| 33312876 | L-Fucose treatment of FUT8-CDG. | Mol Genet Metab Rep | 2020 |
| 32628763 | Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males. | Clin Chem | 2020 |
| 32145091 | Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease. | Hepatology | 2020 |
| 30423312 | Glycomics in rare diseases: from diagnosis tomechanism. | Transl Res | 2019 |
| 30770376 | Increased Clinical Sensitivity and Specificity of Plasma Protein <i>N</i>-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry. | Clin Chem | 2019 |
| 28750948 | Mitochondrial function requires NGLY1. | Mitochondrion | 2018 |
| 30740408 | Congenital disorders of glycosylation. | Ann Transl Med | 2018 |
| 29283439 | Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy. | Ann Neurol | 2018 |
| 28603714 | Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. | Front Med (Lausanne) | 2017 |
| 28481222 | Hepatic metal ion transporter ZIP8 regulates manganese homeostasis and manganese-dependent enzyme activity. | J Clin Invest | 2017 |
| 28344780 | Abnormal glycosylation in Joubert syndrome type 10. | Cilia | 2017 |
| 28777481 | A human case of SLC35A3-related skeletal dysplasia. | Am J Med Genet A | 2017 |
| 28617415 | Oral D-galactose supplementation in PGM1-CDG. | Genet Med | 2017 |
| 28932688 | ALG9-CDG: New clinical case and review of the literature. | Mol Genet Metab Rep | 2017 |
| 26931382 | ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. | Hum Mutat | 2016 |
| 26430078 | A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. | Clin Chem | 2016 |
| 26668131 | Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. | J Med Genet | 2016 |
| 27340277 | Selective Detection of the D-enantiomer of 2-Hydroxyglutarate in the CSF of Glioma Patients with Mutated Isocitrate Dehydrogenase. | Clin Cancer Res | 2016 |
| 25678555 | Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. | Hum Mol Genet | 2015 |
| 26305822 | Ultra-deep sequencing provides insights into the virology of hepatitis C super-infections in a case of three sequential infections with different genotypes. | J Clin Virol | 2015 |
| 26132001 | Glycosylation Analysis for Congenital Disorders of Glycosylation. | Curr Protoc Hum Genet | 2015 |
| 24144731 | The role of sterol-C4-methyl oxidase in epidermal biology. | Biochim Biophys Acta | 2014 |
| 25251875 | ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. | Am J Med Genet A | 2014 |
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| 25123033 | Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy. | Biomark Med | 2014 |
| 24716661 | Glycosylation, hypogammaglobulinemia, and resistance to viral infections. | N Engl J Med | 2014 |
| 23561849 | Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. | Am J Hum Genet | 2013 |
| 24497719 | An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges. | Indian J Hum Genet | 2013 |
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