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Archives of Disease in Childhood. Education and Practice Edition
|
November 22, 2011
How to use serum ammonia
Alexander Broomfield, Stephanie Grunewald
Molecular Genetics and Metabolism Reports
|
August 19, 2016
The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences
Stefano Bruni, Christine Lavery, Alexander Broomfield
Frontiers in Pediatrics
|
October 26, 2020
Transition to Adult Care in Children on Long-Term Ventilation
Alessandro Onofri, Alexander Broomfield, Hui-Leng Tan
Orphanet Journal of Rare Diseases
|
June 7, 2020
Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome)
Rajkumar Sundarapandian, Simon Jones, Alexander Broomfield, et al.
JIMD Reports
|
September 14, 2018
I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease
Rachel Edmiston, Stuart Wilkinson, Simon Jones, et al.
Journal of Inherited Metabolic Disease
|
March 12, 2017
Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation
Su Han Lum, Karolina M Stepien, Arunabha Ghosh, et al.
BMJ Neurology Open
|
December 26, 2025
Diagnosis, management and monitoring of patients with Pompe disease in the UK
Jordi Díaz-Manera, Alexander Broomfield, James Davison, et al.
Orphanet Journal of Rare Diseases
|
July 21, 2023
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel
Karolina M Stepien, Alexander Broomfield, Duncan Cole, et al.
Orphanet Journal of Rare Diseases
|
September 4, 2023
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy
Eleanor Palmer, Karolina M Stepien, Christopher Campbell, et al.
Orphanet Journal of Rare Diseases
|
December 7, 2023
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Priya S Kishnani, David Kronn, Shugo Suwazono, et al.
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of 3
Search research articles
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Showing results (1-10 of 23) with videos related to
Sort By:
Page
of 3
Archives of Disease in Childhood. Education and Practice Edition
|
November 22, 2011
How to use serum ammonia
Alexander Broomfield, Stephanie Grunewald
Molecular Genetics and Metabolism Reports
|
August 19, 2016
The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences
Stefano Bruni, Christine Lavery, Alexander Broomfield
Frontiers in Pediatrics
|
October 26, 2020
Transition to Adult Care in Children on Long-Term Ventilation
Alessandro Onofri, Alexander Broomfield, Hui-Leng Tan
Orphanet Journal of Rare Diseases
|
June 7, 2020
Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome)
Rajkumar Sundarapandian, Simon Jones, Alexander Broomfield, et al.
JIMD Reports
|
September 14, 2018
I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease
Rachel Edmiston, Stuart Wilkinson, Simon Jones, et al.
Journal of Inherited Metabolic Disease
|
March 12, 2017
Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation
Su Han Lum, Karolina M Stepien, Arunabha Ghosh, et al.
BMJ Neurology Open
|
December 26, 2025
Diagnosis, management and monitoring of patients with Pompe disease in the UK
Jordi Díaz-Manera, Alexander Broomfield, James Davison, et al.
Orphanet Journal of Rare Diseases
|
July 21, 2023
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel
Karolina M Stepien, Alexander Broomfield, Duncan Cole, et al.
Orphanet Journal of Rare Diseases
|
September 4, 2023
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy
Eleanor Palmer, Karolina M Stepien, Christopher Campbell, et al.
Orphanet Journal of Rare Diseases
|
December 7, 2023
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Priya S Kishnani, David Kronn, Shugo Suwazono, et al.
Page
of 3