A. Broomfield

发表

Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome)

Rajkumar Sundarapandian, Simon Jones, A. Broomfield, 2020, Orphanet Journal of Rare Diseases.

Pulmonary Manifestations of Endocrine and Metabolic Diseases in Children.

A. Broomfield, R. Padidela, S. Wilkinson, 2021, Pediatric clinics of North America.

The impact of the immune system on the safety and efficiency of enzyme replacement therapy in lysosomal storage disorders

A. Broomfield, B. Bigger, S. Hughes, 2016, Journal of Inherited Metabolic Disease.

Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma.

W. Hwu, U. Ramaswami, A. Broomfield, 2021, Molecular genetics and metabolism.

Transition to Adult Care in Children on Long-Term Ventilation

A. Broomfield, H. Tan, A. Onofri, 2020, Frontiers in Pediatrics.

Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome)

Rajkumar Sundarapandian, Simon Jones, A. Broomfield, 2020, Orphanet Journal of Rare Diseases.

Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation

A. Broomfield, R. Wynn, K. Stepien, 2017, Journal of Inherited Metabolic Disease.

The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

A. Broomfield, J. E. Wraith, A. Chakrapani, 2010, Journal of Inherited Metabolic Disease.

The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences

A. Broomfield, C. Lavery, S. Bruni, 2016, Molecular genetics and metabolism reports.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Galactosaemia an update

C. Brain, A. Broomfield, S. Grunewald, 2011 .

Galactosaemia: diagnosis, management and long-term outcome

C. Brain, A. Broomfield, S. Grunewald, 2015 .

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

L. de Meirleir, J. Zeman, A. Broomfield, 2018, Acta paediatrica.

IDUA mutational profile and genotype–phenotype relationships in UK patients with Mucopolysaccharidosis Type I

W. Yue, A. Broomfield, C. Beesley, 2017, Human mutation.

Respiratory complications of metabolic disease in the paediatric population: A review of presentation, diagnosis and therapeutic options.

A. Broomfield, I. Bruce, S. Wilkinson, 2019, Paediatric respiratory reviews.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

S. Züchner, M. Lek, F. Muntoni, 2013, Brain : a journal of neurology.

Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

A. Broomfield, P. Hensman, J. Fletcher, 2018, JIMD reports.

Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy

A. Broomfield, A. Chakrapani, C. Beesley, 2016, Journal of Inherited Metabolic Disease.

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

A. Broomfield, A. Vellodi, D. Burke, 2014, JIMD reports.

A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus.

R. Gunny, A. Broomfield, P. Prabhakar, 2013, JIMD reports.

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

M. Baumgartner, T. Suormala, S. Lorenzl, 2015, Journal of Inherited Metabolic Disease.

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.

U. Ramaswami, A. Broomfield, P. Hensman, 2020, Molecular genetics and metabolism.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

T. Jacques, W. Yue, S. Rahman, 2016, Brain : a journal of neurology.

I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease.

A. Broomfield, I. Bruce, S. Wilkinson, 2019, JIMD reports.

Spontaneous Rapid Resolution of Acute Basal Ganglia Changes in an Untreated Infant with Propionic Acidemia: A Clue to Pathogenesis?

R. Gunny, A. Broomfield, P. Prabhakar, 2010, Neuropediatrics.

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Robert W. Taylor, H. Prokisch, M. Simpson, 2015, Brain : a journal of neurology.

Metabolic Diseases

A. Broomfield, S. Grünewald, C. Wilson, 2019, Great Ormond Street Handbook of Paediatrics.

Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders.

W. Pitt, A. Broomfield, E. Jameson, 2014, JIMD reports.

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

S. Bhaskar, S. Banka, S. Douzgou, 2017, Archives of Disease in Childhood.

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

Holger Prokisch, Robert W. Taylor, Langping He, 2019, American journal of human genetics.

Outcomes from 18 years of cervical spine surgery in MPS IVA: a single centre’s experience

F. Stewart, A. Broomfield, P. Hensman, 2018, Child's Nervous System.

Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease

W. Newman, A. Broomfield, B. Bigger, 2021, Orphanet Journal of Rare Diseases.

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

S. Rahman, M. Sweeney, P. Clayton, 2014, Journal of Inherited Metabolic Disease.

Validation of ELISA and cellular uptake inhibition assays to detect and quantify antibodies raised against sebelipase alfa in lysosomal acid lipase deficiency

A. Broomfield, K. Tylee, Arunabha Ghosh, 2020 .

The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I.

A. Broomfield, P. Hensman, A. Ghosh, 2020, Molecular genetics and metabolism.

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

R. Lachmann, A. Broomfield, E. Jameson, 2017, Journal of Inherited Metabolic Disease.

TMEM70 deficiency: long-term outcome of 48 patients

E. Bertini, H. Mandel, S. Rahman, 2015, Journal of Inherited Metabolic Disease.

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.

Y. Chien, A. Broomfield, A. Brassier, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.