Author

Derek G. Burke

Observed names: Burke Derek, Burke, D, D Burke, D. Burke, DG Burke, Derek Burke, Derek Burke (1460971)

Institution: Great Ormond Street Hospital

Observed institutions: University of London, Great Ormond Street Hospital, Great Ormond Street Hospital for Children NHS Foundation Trust, Royal London Hospital, National Hospital for Neurology and Neurosurgery, NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Queen Square Institute of Neurology, University College London

OpenAlex ID: A5011966740

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

2012 · Matthew E. Gegg, Derek Burke, et al. · Annals of Neurology · 561

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Fetal gene therapy for neurodegenerative disease of infants

2018 · Giulia Massaro, Citra N. Z. Mattar, et al. · Nature Medicine · 160

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

2017 · Radha Desai, Ann E. Frazier, et al. · Brain · 147

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Glucocerebrosidase 1 deficientDanio reriomirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death

2015 · Marcus Keatinge, Hai Bui, et al. · Human Molecular Genetics · 126

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Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

2020 · Dora Steel, Michael Zech, et al. · Annals of Neurology · 110

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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

2016 · Michael Fietz, Moeenaldeen AlSayed, et al. · Molecular Genetics and Metabolism · 104

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ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

2013 · Emma A. Webb, Angham AlMutair, et al. · Brain · 86

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Movement Disorders in Adult Patients With Classical Galactosemia

2013 · Ignacio Rubio‐Agusti, Miryam Carecchio, et al. · Movement Disorders · 74

Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases

2011 · Victoria Manwaring, Helen Prunty, et al. · Journal of Inherited Metabolic Disease · 46

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

2014 · Joshua Hersheson, Derek Burke, et al. · Neurology · 42

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Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys

2021 · Julien Baruteau, Sharon C. Cunningham, et al. · Molecular Therapy — Methods & Clinical Development · 38

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Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes

2012 · Derek G. Burke, Ahad A. Rahim, et al. · Journal of Inherited Metabolic Disease · 34

Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene

2003 · C E Beesley, D Burke, et al. · Journal of Medical Genetics · 34

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A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT , the gene associated with Sanfilippo C mucopolysaccharidosis

2020 · Elena R. Schiff, Malena Daich Varela, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 28

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An LC–MS/MS-Based Method for the Quantification of Pyridox(am)ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

2017 · Matthew P. Wilson, Emma J. Footitt, et al. · Analytical Chemistry · 25

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Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates

2009 · O. P. van Diggelen, L. F. Oemardien, et al. · Journal of Inherited Metabolic Disease · 25

Proteomic 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

2015 · Wendy E. Heywood, Stephane Camuzeaux, et al. · Analytical Chemistry · 24

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Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review

2010 · Araceli Alonso‐Canovas, Petra Katschnig, et al. · Movement Disorders · 23

Inhibition of neuronal mitochondrial complex I or lysosomal glucocerebrosidase is associated with increased dopamine and serotonin turnover

2017 · Carmen de la Fuente, Derek G. Burke, et al. · Neurochemistry International · 21

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Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease

2013 · J. Baruteau, A. Broomfield, et al. · JIMD Reports · 21

Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease

2020 · Giuseppa Piras, Claudia Montiel-Equihua, et al. · Molecular Therapy — Methods & Clinical Development · 17

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Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells

2019 · Jonathan Lambert, Steven Howe, et al. · International Journal of Molecular Sciences · 4

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Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots

2024 · Rohit Hirachan, Alistair Horman, et al. · JIMD Reports · 3

Fabry disease Enzyme Enhancement on migalastat Study: FEES

2024 · Mathura Kugan, Simona D’Amore, et al. · Clinica Chimica Acta · 2

The UK experience of enzyme replacement therapy in patients with infantile onset Pompe disease

2015 · Alexander Broomfield, James Davison, et al. · Molecular Genetics and Metabolism · 2

Works count: 65

Citation count: 1,766

H-index: 20

I10-index: 21