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Author Details

Maureen Cleary
Great Ormond Street Hospital for Children NHS Trust
1991
78
25
PMIDPaper TitleJournal TitlePublished Year
36413418A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.J Clin Invest2023
38044746The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.J Inherit Metab Dis2023
35709957Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.J Pediatr2022
33478511Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.Orphanet J Rare Dis2021
35281666Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency.JIMD Rep2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34640463Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature.J Clin Med2021
34247932A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.Mol Genet Metab2021
34344399Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at <⿿4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.Orphanet J Rare Dis2021
34145605Long-term cognitive and psychosocial outcomes in adults with phenylketonuria.J Inherit Metab Dis2021
34056100Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.Neurol Genet2021
31452203Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses.J Inherit Metab Dis2020
32154062Earwax: A potentially useful medium to identify inborn errors of metabolism?JIMD Rep2020
32455636Clinical Genetics of Prolidase Deficiency: An Updated Review.Biology (Basel)2020
31383595Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.Mol Genet Metab2020
31462754The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.Genet Med2020
29779011Fifteen-minute consultation: Red flags for metabolic disease in routine bloods.Arch Dis Child Educ Pract Ed2019
31929969Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to <i>AMPD2</i> mutation: typical MRI appearances and pearls for differential diagnosis.Quant Imaging Med Surg2019
31718089Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.Metabolites2019
30528227Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.Mol Genet Metab2019
29661560Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B.J Pediatr2018
30242902International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.Acta Paediatr2018
29901537An Evidence-based Approach to the Management of Children With Morquio A Syndrome Presenting With Craniocervical Pathology.Spine (Phila Pa 1976)2018
31431977Fucosidosis mimicking juvenile idiopathic arthritis.Rheumatol Adv Pract2018
27344650Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.JIMD Rep2017
28251416Expanding the phenotype in argininosuccinic aciduria: need for new therapies.J Inherit Metab Dis2017
28274234Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients &lt;4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.Orphanet J Rare Dis2017
28651568Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.Orphanet J Rare Dis2017
26205433Coenzyme Q<sub>10</sub> and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.JIMD Rep2016
26350228Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.Eur J Pediatr2016
26446091Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.JIMD Rep2016
26497565Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.J Inherit Metab Dis2016
27604308Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain2016
26915897Thickening of the optic nerves in metachromatic leucodystrophy: A new MRI finding.Neuroradiol J2016
26498184The challenges of managing coexistent disorders with phenylketonuria: 30 cases.Mol Genet Metab2015
26537538Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.Anal Chem2015
25102806Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program.Mol Genet Metab2014
25390740Monocarboxylate transporter 1 deficiency and ketone utilization.N Engl J Med2014
24997712Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders.JIMD Rep2014
23918765A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.Am J Med Genet A2013
24090706Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.Mol Genet Metab2013
22923539Transfer of high cost drugs to NICE risks fragmentation of care of rare diseases.BMJ2012
21150784Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.Genet Med2011
21931170Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.J Med Genet2011
20549361Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.J Inherit Metab Dis2010
19319660Changes in gait pattern as assessed by the GAITRiteâ¿¢ walkway system in MPS II patients undergoing enzyme replacement therapy.J Inherit Metab Dis2009
19153055Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry.Mol Genet Metab2009
18184144The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England.Ann Hum Genet2008
17693179Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.Lancet2007
16523206Randomised controlled trial of essential fatty acid supplementation in phenylketonuria.Eur J Clin Nutr2006
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Collaborators

Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 9
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 9
St Mary's Hospital, Manchester University NHS Foundation Trust
Co-authored papers 7
UCL Great Ormond Street Institute of Child Health
Co-authored papers 6
Great Ormond Street Hospital for Children NHS Foundation Trust
Co-authored papers 6
Co-authored papers 4
Alder Hey Children's NHS Foundation Trust
Co-authored papers 3
Co-authored papers 3
Hospital Reutlingen
Co-authored papers 2
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 2
NIHR Great Ormond Street Biomedical Research Centre
Co-authored papers 2
Great Ormond Street Hospital
Co-authored papers 2
Cardiff University
Co-authored papers 2
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
Co-authored papers 1
UCL Great Ormond Street Institute of Child Health
Co-authored papers 1
Queen Mary University of London
Co-authored papers 1
Guy's and St Thomas' Hospital
Co-authored papers 1
Newcastle University
Co-authored papers 1
Great Ormond Street Hospital for Children
Co-authored papers 1
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 1
Co-authored papers 1
Oxford University Hospitals NHS Foundation Trust
Co-authored papers 1
Guy's Hospital
Co-authored papers 1
Co-authored papers 1
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 1
Birmingham Women's and Children's NHS Foundation Trust
Co-authored papers 1
MRC Weatherall Institute of Molecular Medicine, University of Oxford
Co-authored papers 1
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
Co-authored papers 1