Derek G. Burke

Great Ormond Street Hospital For Children NHS Trust London
Strete, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 36 publications

Fabry disease Enzyme Enhancement on migalastat Study: FEES.

Fabry disease Enzyme Enhancement on migalastat Study: FEES.

Journal: Clinica chimica acta; international journal of clinical chemistry
Published: May 30, 2024

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

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

Journal: JIMD reports
Published: September 29, 2023

Making Emergency Surgical Decisions Without any Imaging Evidence: A Case Report of Complicated Diverticular Phlegmon.

Making Emergency Surgical Decisions Without any Imaging Evidence: A Case Report of Complicated Diverticular Phlegmon.

Journal: Journal of clinical medicine research
Published: May 29, 2022

Combined Gluteal and Posterior Thigh Compartment Syndrome Without Associated Fracture: A Case Report.

Combined Gluteal and Posterior Thigh Compartment Syndrome Without Associated Fracture: A Case Report.

Journal: Journal of clinical medicine research
Published: April 13, 2022

Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia.

Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: October 29, 2021

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

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

Journal: Molecular therapy. Methods & clinical development
Published: May 26, 2021

Differential activity of glucocerebrosidase in neurons and astrocytes; implications for evaluating tissue homogenates derived from Parkinson's disease brains.

Differential activity of glucocerebrosidase in neurons and astrocytes; implications for evaluating tissue homogenates derived from Parkinson's disease brains.

Journal: Journal of the neurological sciences
Published: June 22, 2020

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

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

Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: June 22, 2020

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

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

Journal: Annals of neurology
Published: May 12, 2020

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

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

Journal: Molecular therapy. Methods & clinical development
Published: March 07, 2020

Infrared thermal imaging as a screening tool for paediatric wrist fractures.

Infrared thermal imaging as a screening tool for paediatric wrist fractures.

Journal: Medical & biological engineering & computing
Published: October 30, 2019

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

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

Journal: International journal of molecular sciences
Published: August 26, 2019
Showing 1-12 of 36

Last Updated: 09/26/2026