Alexander Broomfield

Alexander Broomfield

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Alexander Broomfield

Alexander Broomfield

Publications by authors named "Alexander Broomfield"

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11Publications

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

Acta Paediatr 2018 12 23;107(12):2059-2065. Epub 2018 Oct 23.

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1111/apa.14587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282980PMC
December 2018

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

JIMD Rep 2019 13;45:1-8. Epub 2018 Sep 13.

Paediatric ENT Department, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

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http://link.springer.com/10.1007/8904_2018_130
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http://dx.doi.org/10.1007/8904_2018_130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336676PMC
September 2018

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

J Inherit Metab Dis 2017 05 10;40(3):455-460. Epub 2017 Mar 10.

Department of Paediatric Blood and Marrow Transplant, Royal Manchester Children's Hospital, Oxford Rd, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1007/s10545-017-0034-6DOI Listing
May 2017

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

Mol Genet Metab Rep 2016 Sep 2;8:67-73. Epub 2016 Aug 2.

Royal Manchester Children's Hospital, Oxford Road, Manchester M13 9WL, UK.

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http://dx.doi.org/10.1016/j.ymgmr.2016.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975775PMC
September 2016

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

J Inherit Metab Dis 2015 May 29;38(3):445-57. Epub 2014 Oct 29.

Genetic Medicine, Central Manchester University Hospitals NHS Foundation trust, St Mary's Hospital, 6th Floor, Oxford Road, Manchester, M 13 9WL, UK.

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http://dx.doi.org/10.1007/s10545-014-9778-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432108PMC
May 2015

How to use serum ammonia.

Arch Dis Child Educ Pract Ed 2012 Apr 18;97(2):72-7; answer to quiz pg 80. Epub 2011 Nov 18.

Metabolic Medicine Unit, Great Ormond Street Hospital for Children with UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/archdischild-2011-300194DOI Listing
April 2012