List of works - Alexander Broomfield

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

scientific article published on 06 September 2016

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.

scientific article published on 20 December 2014

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

scientific article published on 3 May 2017

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 01 May 2015

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

scientific article

How to use serum ammonia

scientific article published on 18 November 2011

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

scientific article published on 28 July 2017

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

scientific article published on 27 October 2015

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

scientific article published on 10 March 2017

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

scientific article published on 26 June 2018

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

scientific article published on 29 October 2014

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

scientific article

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

scientific article

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

scientific article published on 06 July 2014

Spontaneous rapid resolution of acute basal ganglia changes in an untreated infant with propionic acidemia: a clue to pathogenesis?

scientific article published on 01 December 2010

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

scientific article published on 04 September 2013

TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 18 October 2014

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

scientific article published on 02 August 2016

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

scientific article

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

scientific article published on 16 February 2016

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

scientific article

List of works by Alexander Broomfield

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

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.

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

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

How to use serum ammonia

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

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

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

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

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

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

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

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

Spontaneous rapid resolution of acute basal ganglia changes in an untreated infant with propionic acidemia: a clue to pathogenesis?

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

TMEM70 deficiency: long-term outcome of 48 patients

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

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

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

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2