Lista de obras - Alexander Broomfield - Dominio Público Uruguay

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

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2017

How to use serum ammonia

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

TMEM70 deficiency: long-term outcome of 48 patients

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

artículo científico publicado en 2013

Lista de obras de 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