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| 37542768 | Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management. | | 2023 |
| 37076312 | Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome. | | 2023 |
| 35869884 | GGPS1-associated muscular dystrophy with and without hearing loss. | Ann Clin Transl Neurol | 2022 |
| 35647502 | Increased carbohydrate deficient transferrin: Whisky or candy? | JHEP Reports | 2022 |
| 34653363 | Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. | Am J Hum Genet | 2021 |
| 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 |
| 34245688 | SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy. | Clin Chim Acta | 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 |
| 34729478 | High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. | Brain Commun | 2021 |
| 32700771 | Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies. | J Inherit Metab Dis | 2020 |
| 32266963 | Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation. | J Inherit Metab Dis | 2020 |
| 32399598 | Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM). | Hum Genet | 2020 |
| 33098580 | Long term outcome of MPI-CDG patients on D-mannose therapy. | Journal of Inherited Metabolic Disease | 2020 |
| 31196579 | Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations. | Brain and Development | 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 |
| 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 |
| 29759592 | CCDC115-CDG: A new rare and misleading inherited cause of liver disease. | Mol Genet Metab | 2018 |
| 28510035 | Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency. | JIMD Reports | 2018 |
| 29869806 | Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation. | Electrophoresis | 2018 |
| 28457853 | Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation. | Clinica Chimica Acta | 2017 |
| 28556183 | A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome. | Annals of Neurology | 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 |
| 27869076 | [Genes of alpha-dystroglycanopathies in 2016]. | Medecine/Sciences | 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 |
| 26920903 | Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants. | JIMD Reports | 2016 |
| 27172925 | Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. | Developmental Medicine and Child Neurology | 2016 |
| 26536893 | Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency. | J Neurol Neurosurg Psychiatry | 2016 |
| 24532324 | Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood. | JIMD Reports | 2015 |
| 30363555 | A Case of Progressive Chorea Resulting From GLUT1 Deficiency. | Movement Disorders Clinical Practice | 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 |
| 28198708 | Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein. | Journal of Neuromuscular Diseases | 2015 |
| 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 |
| 23649827 | Partial effectiveness of acetazolamide in a mild form of GLUT1 deficiency: a pediatric observation. | Movement Disorders | 2013 |
| 23986439 | Mutations in SLC2A2 gene reveal hGLUT2 function in pancreatic β cell development. | Journal of Biological Chemistry | 2013 |
| 23483595 | The multiple faces of the ATP1A3-related dystonic movement disorder. | Movement Disorders | 2013 |
| 23217329 | Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. | American Journal of Human Genetics | 2012 |
| 22323514 | Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. | Brain | 2012 |
| 23430927 | Expanding the Spectrum of PMM2-CDG Phenotype. | JIMD Reports | 2012 |
| 21727005 | Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies. | Neuromuscular Disorders | 2011 |
| 21248746 | Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. | European Journal of Human Genetics | 2011 |
| 20830593 | Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. | Journal of Neurology | 2011 |
| 21229316 | Dystonic tremor caused by mutation of the glucose transporter gene GLUT1. | Journal of Inherited Metabolic Disease | 2011 |
| 20638314 | Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? | Mol Genet Metab | 2010 |
| 21445818 | Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC). | Neuropediatrics | 2010 |
| 19757145 | Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. | J Inherit Metab Dis | 2009 |
| 19138766 | POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. | European Journal of Medical Genetics | 2009 |