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Author Details

Stephanie Grunewald
Great Ormond Street Hospital for Children NHS Trust
1993
116
39
PMIDPaper TitleJournal TitlePublished Year
36190515Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.Hum Mol Genet2023
37701329Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.JIMD Rep2023
38053940Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.Mol Genet Metab Rep2023
38044746The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.J Inherit Metab Dis2023
37404677Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects.JIMD Rep2023
37276053Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.J Inherit Metab Dis2023
36840752Transplantation in paediatric patients with MMA requires multidisciplinary approach for achievement of good clinical outcomes.Pediatr Nephrol2023
36773065Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.Hum Genet2023
34415583Evolution of viral variants in remdesivir-treated and untreated SARS-CoV-2-infected pediatrics patients.J Med Virol2022
36056436Galactose epimerase deficiency: lessons from the GalNet registry.Orphanet J Rare Dis2022
35281661Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.JIMD Rep2022
32681750International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.J Inherit Metab Dis2021
33595124Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.J Inherit Metab Dis2021
33634872New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.J Inherit Metab Dis2021
34925443SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.Front Genet2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34418116Efficacy 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 Dis2021
34074315Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.Orphanet J Rare Dis2021
34056100Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.Neurol Genet2021
33454187Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects.Neuromuscul Disord2021
33440761Congenital Disorders of Glycosylation from a Neurological Perspective.Brain Sci2021
32885845Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study.J Inherit Metab Dis2021
33470965Editorial.J Mother Child2020
33554499An expanding spectrum of complications in isolated methylmalonic aciduria.J Mother Child2020
31747049Inborn errors of metabolism leading to neuronal migration defects.J Inherit Metab Dis2020
33228797Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.Orphanet J Rare Dis2020
33342467Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.Mol Genet Metab2020
33473335Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication.JIMD Rep2020
30746764Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.J Inherit Metab Dis2019
31718089Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.Metabolites2019
31497480Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutation.JIMD Rep2019
31260114Liver neoplasms in methylmalonic aciduria: An emerging complication.J Inherit Metab Dis2019
30740733Results 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 Dis2019
30740725International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.J Inherit Metab Dis2019
30773687Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.J Inherit Metab Dis2019
31029175The natural history of classic galactosemia: lessons from the GalNet registry.Orphanet J Rare Dis2019
30817854SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.Hum Mutat2019
30815886Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.J Inherit Metab Dis2019
29726081Liver transplantation for neonatal-onset citrullinemia.Pediatr Transplant2018
30518688FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.JCI Insight2018
27344650Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.JIMD Rep2017
28173822An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.Orphanet J Rare Dis2017
28253385Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.JAMA Ophthalmol2017
28251416Expanding the phenotype in argininosuccinic aciduria: need for new therapies.J Inherit Metab Dis2017
28189603UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment.Mol Genet Metab2017
28205048Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.J Inherit Metab Dis2017
28391442Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.JIMD Rep2017
29205472Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.Ann Neurol2017
27858262International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.J Inherit Metab Dis2017
27134828Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.Mol Genet Metab Rep2016
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Collaborators

Center for Human Genetics, KU Leuven and University Hospitals Leuven
Co-authored papers 15
Co-authored papers 14
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 9
Co-authored papers 9
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 8
UCL Great Ormond Street Institute of Child Health
Co-authored papers 7
Great Ormond Street Hospital for Children NHS Foundation Trust
Co-authored papers 7
St Mary's Hospital, Manchester University NHS Foundation Trust
Co-authored papers 7
Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University
Co-authored papers 5
Co-authored papers 5
Section of Clinical Genetics and Metabolism, University of Colorado
Co-authored papers 4
Co-authored papers 4
Alder Hey Children's NHS Foundation Trust
Co-authored papers 4
UCL Great Ormond Street Institute of Child Health
Co-authored papers 3
Co-authored papers 3
Co-authored papers 3
Co-authored papers 3
Evelina London Children's Hospital
Co-authored papers 3
Co-authored papers 2
Co-authored papers 2
Institute of Ophthalmology, University College London
Co-authored papers 2
Institute of Human Development, University of Manchester
Co-authored papers 2
Great Ormond Street Hospital
Co-authored papers 2
Cardiff University
Co-authored papers 2
Great Ormond Street Hospital for Children, NHS Foundation Trust
Co-authored papers 2
Great Ormond Street Hospital for Children NHS Foundation Trust
Co-authored papers 2
University of Manchester
Co-authored papers 2
Institute of Ophthalmology, University College London
Co-authored papers 2
Queen Mary University of London
Co-authored papers 2
Walter and Eliza Hall Institute of Medical Research
Co-authored papers 2