| 36190515 | Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency. | Hum Mol Genet | 2023 |
| 37701329 | Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre. | JIMD Rep | 2023 |
| 38053940 | Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study. | Mol Genet Metab Rep | 2023 |
| 38044746 | The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria. | J Inherit Metab Dis | 2023 |
| 37404677 | Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects. | JIMD Rep | 2023 |
| 37276053 | Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study. | J Inherit Metab Dis | 2023 |
| 36840752 | Transplantation in paediatric patients with MMA requires multidisciplinary approach for achievement of good clinical outcomes. | Pediatr Nephrol | 2023 |
| 36773065 | Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia. | Hum Genet | 2023 |
| 34415583 | Evolution of viral variants in remdesivir-treated and untreated SARS-CoV-2-infected pediatrics patients. | J Med Virol | 2022 |
| 36056436 | Galactose epimerase deficiency: lessons from the GalNet registry. | Orphanet J Rare Dis | 2022 |
| 35281661 | Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders. | JIMD Rep | 2022 |
| 32681750 | International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. | J Inherit Metab Dis | 2021 |
| 33595124 | Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. | J Inherit Metab Dis | 2021 |
| 33634872 | New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches. | J Inherit Metab Dis | 2021 |
| 34925443 | SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype. | Front Genet | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 34418116 | Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment. | J Inherit Metab Dis | 2021 |
| 34074315 | Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study. | Orphanet J Rare Dis | 2021 |
| 34056100 | Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era. | Neurol Genet | 2021 |
| 33454187 | Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects. | Neuromuscul Disord | 2021 |
| 33440761 | Congenital Disorders of Glycosylation from a Neurological Perspective. | Brain Sci | 2021 |
| 32885845 | Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. | J Inherit Metab Dis | 2021 |
| 33470965 | Editorial. | J Mother Child | 2020 |
| 33554499 | An expanding spectrum of complications in isolated methylmalonic aciduria. | J Mother Child | 2020 |
| 31747049 | Inborn errors of metabolism leading to neuronal migration defects. | J Inherit Metab Dis | 2020 |
| 33228797 | Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study. | Orphanet J Rare Dis | 2020 |
| 33342467 | Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. | Mol Genet Metab | 2020 |
| 33473335 | Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication. | JIMD Rep | 2020 |
| 30746764 | Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients. | J Inherit Metab Dis | 2019 |
| 31718089 | Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment. | Metabolites | 2019 |
| 31497480 | Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutation. | JIMD Rep | 2019 |
| 31260114 | Liver neoplasms in methylmalonic aciduria: An emerging complication. | J Inherit Metab Dis | 2019 |
| 30740733 | Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). | 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 |
| 30773687 | Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry. | J Inherit Metab Dis | 2019 |
| 31029175 | The natural history of classic galactosemia: lessons from the GalNet registry. | Orphanet J Rare Dis | 2019 |
| 30817854 | SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. | Hum Mutat | 2019 |
| 30815886 | Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia. | J Inherit Metab Dis | 2019 |
| 29726081 | Liver transplantation for neonatal-onset citrullinemia. | Pediatr Transplant | 2018 |
| 30518688 | FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. | JCI Insight | 2018 |
| 27344650 | Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease. | JIMD Rep | 2017 |
| 28173822 | An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. | Orphanet J Rare Dis | 2017 |
| 28253385 | Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. | JAMA Ophthalmol | 2017 |
| 28251416 | Expanding the phenotype in argininosuccinic aciduria: need for new therapies. | J Inherit Metab Dis | 2017 |
| 28189603 | UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment. | Mol Genet Metab | 2017 |
| 28205048 | Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. | J Inherit Metab Dis | 2017 |
| 28391442 | Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. | JIMD Rep | 2017 |
| 29205472 | Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. | Ann Neurol | 2017 |
| 27858262 | International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. | J Inherit Metab Dis | 2017 |
| 27134828 | Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation. | Mol Genet Metab Rep | 2016 |