Broomfield A - Search Results

1

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

Lum SH, Stepien KM, Ghosh A, Broomfield A, Church H, Mercer J, Jones S, Wynn R. Lum SH, et al. Among authors: broomfield a. J Inherit Metab Dis. 2017 May;40(3):455-460. doi: 10.1007/s10545-017-0034-6. Epub 2017 Mar 10. J Inherit Metab Dis. 2017. PMID: 28283844

2

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

Broomfield AA, Chakrapani A, Wraith JE. Broomfield AA, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S123-7. doi: 10.1007/s10545-009-9035-4. Epub 2010 Feb 18. J Inherit Metab Dis. 2010. PMID: 20165920

3

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

Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S. Broomfield A, et al. J Inherit Metab Dis. 2015 May;38(3):445-57. doi: 10.1007/s10545-014-9778-4. Epub 2014 Oct 29. J Inherit Metab Dis. 2015. PMID: 25352051 Free PMC article.

4

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

Broomfield A, Fletcher J, Davison J, Finnegan N, Fenton M, Chikermane A, Beesley C, Harvey K, Cullen E, Stewart C, Santra S, Vijay S, Champion M, Abulhoul L, Grunewald S, Chakrapani A, Cleary MA, Jones SA, Vellodi A. Broomfield A, et al. J Inherit Metab Dis. 2016 Mar;39(2):261-71. doi: 10.1007/s10545-015-9898-5. Epub 2015 Oct 26. J Inherit Metab Dis. 2016. PMID: 26497565

5

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

Broomfield A, Jones SA, Hughes SM, Bigger BW. Broomfield A, et al. J Inherit Metab Dis. 2016 Jul;39(4):499-512. doi: 10.1007/s10545-016-9917-1. Epub 2016 Feb 16. J Inherit Metab Dis. 2016. PMID: 26883220 Review.

6

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

Ghosh A, Schlecht H, Heptinstall LE, Bassett JK, Cartwright E, Bhaskar SS, Urquhart J, Broomfield A, Morris AA, Jameson E, Schwahn BC, Walter JH, Douzgou S, Murphy H, Hendriksz C, Sharma R, Wilcox G, Crushell E, Monavari AA, Martin R, Doolan A, Senniappan S, Ramsden SC, Jones SA, Banka S. Ghosh A, et al. Among authors: broomfield a. Arch Dis Child. 2017 Nov;102(11):1019-1029. doi: 10.1136/archdischild-2017-312738. Epub 2017 May 3. Arch Dis Child. 2017. PMID: 28468868

7

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

Broomfield A, Fletcher J, Hensman P, Wright R, Prunty H, Pavaine J, Jones SA. Broomfield A, et al. JIMD Rep. 2018;39:55-62. doi: 10.1007/8904_2017_46. Epub 2017 Jul 20. JIMD Rep. 2018. PMID: 28726123 Free PMC article.

8

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

Ghosh A, Mercer J, Mackinnon S, Yue WW, Church H, Beesley CE, Broomfield A, Jones SA, Tylee K. Ghosh A, et al. Among authors: broomfield a. Hum Mutat. 2017 Nov;38(11):1555-1568. doi: 10.1002/humu.23301. Epub 2017 Aug 17. Hum Mutat. 2017. PMID: 28752568

9

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

Broomfield A, Zuberi K, Mercer J, Moss G, Finnegan N, Hensman P, Walker R, Bukhari S, Wright NB, Stewart F, Jones SA, Ramirez R. Broomfield A, et al. Childs Nerv Syst. 2018 Sep;34(9):1705-1716. doi: 10.1007/s00381-018-3823-9. Epub 2018 Jun 26. Childs Nerv Syst. 2018. PMID: 29946810

10

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

Edmiston R, Wilkinson S, Jones S, Tylee K, Broomfield A, Bruce IA. Edmiston R, et al. Among authors: broomfield a. JIMD Rep. 2019;45:1-8. doi: 10.1007/8904_2018_130. Epub 2018 Sep 13. JIMD Rep. 2019. PMID: 30209781 Free PMC article.

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