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| 35062987 | Vitamin C improves microvascular reactivity and peripheral tissue perfusion in septic shock patients. | Crit Care | 2022 |
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| 33964207 | A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. | Am J Hum Genet | 2021 |
| 34141584 | MAN1B1-CDG: Three new individuals and associated biochemical profiles. | Mol Genet Metab Rep | 2021 |
| 34022244 | Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue! | Clin Chim Acta | 2021 |
| 33300232 | Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications. | Human Mutation | 2021 |
| 33098580 | Long term outcome of MPI-CDG patients on D-mannose therapy. | Journal of Inherited Metabolic Disease | 2020 |
| 31586639 | Impact of vitamin D supplementation model on the circulating levels of 25 (OH) D in Algerian children aged 1-23 months. | Journal of Steroid Biochemistry and Molecular Biology | 2020 |
| 31915280 | A Genome-Wide CRISPR-Cas9 Screen Identifies the Dolichol-Phosphate Mannose Synthase Complex as a Host Dependency Factor for Dengue Virus Infection. | J Virol | 2020 |
| 31067009 | Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus. | Human Mutation | 2019 |
| 30420707 | Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient. | Pediatric Research | 2019 |
| 31266720 | Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene. | Neuromuscular Disorders | 2019 |
| 29759592 | CCDC115-CDG: A new rare and misleading inherited cause of liver disease. | Mol Genet Metab | 2018 |
| 29969625 | Serum bikunin is a biomarker of linkeropathies. | Clinica Chimica Acta | 2018 |
| 29869806 | Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation. | Electrophoresis | 2018 |
| 27864712 | Associations between serum lipids and breast cancer incidence and survival in the E3N prospective cohort study. | Cancer Causes and Control | 2017 |
| 28954837 | Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. | J Med Genet | 2017 |
| 28457853 | Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation. | Clinica Chimica Acta | 2017 |
| 26920903 | Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants. | JIMD Reports | 2016 |
| 27343064 | A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. | Orphanet Journal of Rare Diseases | 2016 |
| 25556575 | Red blood cell Thomsen-Friedenreich antigen expression and galectin-3 plasma concentrations in Streptococcus pneumoniae-associated hemolytic uremic syndrome and hemolytic anemia. | Transfusion | 2015 |
| 25626710 | Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers. | JIMD Reports | 2015 |
| 24821236 | Long-term evolution of nutritional deficiencies after gastric bypass: an assessment according to compliance to medical care. | Annals of Surgery | 2014 |
| 24122661 | Comparison of nutritional status during the first year after sleeve gastrectomy and Roux-en-Y gastric bypass. | Obesity Surgery | 2014 |
| 24152903 | Agreement of seven 25-hydroxy vitamin Dâ¿¿ immunoassays and three high performance liquid chromatography methods with liquid chromatography tandem mass spectrometry. | Clinical Chemistry and Laboratory Medicine | 2014 |
| 23796732 | 25-hydroxyvitamin D status does not affect the clinical rituximab response in rheumatoid arthritis. | Joint Bone Spine | 2014 |
| 24504436 | C-reactive protein and postmenopausal breast cancer risk: results from the E3N cohort study. | Cancer Causes and Control | 2014 |
| 23329150 | Progression of aortic valve stenosis is associated with bone remodelling and secondary hyperparathyroidism in elderly patients--the COFRASA study. | European Heart Journal | 2013 |
| 23150206 | Serum vitamin D increases with weight loss in obese subjects 6 months after Roux-en-Y gastric bypass. | Obesity Surgery | 2013 |
| 23430927 | Expanding the Spectrum of PMM2-CDG Phenotype. | JIMD Reports | 2012 |
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| 20668520 | Identification of roles for peptide: N-glycanase and endo-beta-N-acetylglucosaminidase (Engase1p) during protein N-glycosylation in human HepG2 cells. | PLoS ONE | 2010 |
| 20826834 | Serum 25(OH) vitamin D and risk of breast cancer: a nested case-control study from the French E3N cohort. | Cancer Epidemiology Biomarkers and Prevention | 2010 |
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| 20652024 | The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation process. | PLoS ONE | 2010 |
| 20638314 | Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? | Mol Genet Metab | 2010 |
| 19757145 | Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. | J Inherit Metab Dis | 2009 |
| 19357119 | Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia). | Journal of Medical Genetics | 2009 |
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| 18572752 | Living with HIV, antiretroviral treatment experience and tobacco smoking: results from a multisite cross-sectional study. | Antiviral Therapy | 2008 |
| 18216481 | Orange palpebral spots. | Dermatology | 2008 |
| 17049852 | Mono, di and tri-mannopyranosyl phosphates as mannose-1-phosphate prodrugs for potential CDG-Ia therapy. | Bioorganic and Medicinal Chemistry Letters | 2007 |
| 16376131 | PMM2 intronic branch-site mutations in CDG-Ia. | Molecular Genetics and Metabolism | 2006 |
| 16641202 | A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings. | Pediatric Research | 2006 |
| 15576474 | Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. | Blood | 2005 |
| 15844218 | A new insight into PMM2 mutations in the French population. | Human Mutation | 2005 |
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| 13130291 | [Congenital disorders of glycosylation]. | Annales Pharmaceutiques Francaises | 2003 |
| 12480927 | A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. | Journal of Biological Chemistry | 2003 |
| 12736397 | Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. | Pediatric Research | 2003 |