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| 33300232 | Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications. | Human Mutation | 2021 |
| 33964207 | A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. | Am J Hum Genet | 2021 |
| 33534079 | Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations. | Journal of Clinical Immunology | 2021 |
| 33144047 | Influence of the environmental relative humidity on the inflammatory response of skin model after exposure to various environmental pollutants. | Environmental Research | 2021 |
| 32700771 | Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies. | J Inherit Metab Dis | 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 |
| 33098580 | Long term outcome of MPI-CDG patients on D-mannose therapy. | Journal of Inherited Metabolic Disease | 2020 |
| 30716388 | An in vitro model to evaluate the impact of environmental fine particles (PM) on skin damage. | Toxicology Letters | 2019 |
| 31641405 | Asthma and allergic rhinitis risk depends on house dust mite specific IgE levels in PARIS birth cohort children. | World Allergy Organization Journal | 2019 |
| 30552423 | A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing. | European Journal of Human Genetics | 2019 |
| 30293989 | Long-term follow-up in PMM2-CDG: are we ready to start treatment trials? | Genet Med | 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 |
| 31271700 | Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies. | Journal of Thrombosis and Haemostasis | 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 |
| 31266720 | Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene. | Neuromuscular Disorders | 2019 |
| 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 |
| 29079546 | Congenital disorders of glycosylation (CDG): Quo vadis? | Eur J Med Genet | 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 |
| 30082715 | SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects. | Nat Commun | 2018 |
| 29759592 | CCDC115-CDG: A new rare and misleading inherited cause of liver disease. | Mol Genet Metab | 2018 |
| 28457853 | Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation. | Clinica Chimica Acta | 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 |
| 28640227 | Impact of Mycotoxins Secreted by Aspergillus Molds on the Inflammatory Response of Human Corneal Epithelial Cells. | Toxins | 2017 |
| 27869076 | [Genes of alpha-dystroglycanopathies in 2016]. | Medecine/Sciences | 2016 |
| 27194101 | ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan. | Nature Communications | 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 |
| 27287710 | ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. | J Inherit Metab Dis | 2016 |
| 26920903 | Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants. | JIMD Reports | 2016 |
| 27480279 | In vitro model adapted to the study of skin ageing induced by air pollution. | Toxicology Letters | 2016 |
| 26631767 | Human Reconstituted Nasal Epithelium, a promising in vitro model to assess impacts of environmental complex mixtures. | Toxicology in Vitro | 2016 |
| 27649627 | Allergic sensitisation in early childhood: Patterns and related factors in PARIS birth cohort. | | 2016 |
| 27501330 | Early polysensitization is associated with allergic multimorbidity in PARIS birth cohort infants. | Pediatric Allergy and Immunology | 2016 |
| 27498540 | Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. | J Inherit Metab Dis | 2016 |
| 28198708 | Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein. | Journal of Neuromuscular Diseases | 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 |
| 25641685 | MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis. | Proteomics - Clinical Applications | 2015 |
| 25256448 | A Cause of Permanent Ketosis: GLUT-1 Deficiency. | JIMD Reports | 2015 |
| 26193382 | From splitting GLUT1 deficiency syndromes to overlapping phenotypes. | European Journal of Medical Genetics | 2015 |
| 24960057 | A model of human nasal epithelial cells adapted for direct and repeated exposure to airborne pollutants. | Toxicology Letters | 2014 |
| 25497157 | 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. | Orphanet J Rare Dis | 2014 |
| 25693348 | [Perioperative management of off-pump CABG for a 93-year-old man]. | Japanese Journal of Anesthesiology | 2014 |
| 24002817 | No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3. | JIMD Reports | 2014 |
| 24819633 | Manganese superoxide dismutase (SOD2) polymorphisms, plasma advanced oxidation protein products (AOPP) concentration and risk of kidney complications in subjects with type 1 diabetes. | PLoS ONE | 2014 |
| 23649827 | Partial effectiveness of acetazolamide in a mild form of GLUT1 deficiency: a pediatric observation. | Movement Disorders | 2013 |
| 22805986 | Arsenic urinary concentrations in children living in a naturally arsenic contaminated area. | Journal of Exposure Science and Environmental Epidemiology | 2013 |
| 24057136 | Catalase activity, allelic variations in the catalase gene and risk of kidney complications in patients with type 1 diabetes. | Diabetologia | 2013 |
| 23217329 | Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. | American Journal of Human Genetics | 2012 |
| 22884749 | [Prenatal symptoms and diagnosis of inherited metabolic diseases]. | Archives de Pediatrie | 2012 |
| 22323514 | Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. | Brain | 2012 |