Broomfield AA - Search Results

1

Pulmonary Manifestations of Endocrine and Metabolic Diseases in Children.

Broomfield AA, Padidela R, Wilkinson S. Broomfield AA, et al. Pediatr Clin North Am. 2021 Feb;68(1):81-102. doi: 10.1016/j.pcl.2020.09.011. Pediatr Clin North Am. 2021. PMID: 33228944 Review.

2

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. JIMD Rep. 2019;45:1-8. doi: 10.1007/8904_2018_130. Epub 2018 Sep 13. JIMD Rep. 2019. PMID: 30209781 Free PMC article.

3

Respiratory complications of metabolic disease in the paediatric population: A review of presentation, diagnosis and therapeutic options.

Broomfield A, Kenth J, Bruce IA, Tan HL, Wilkinson S. Broomfield A, et al. Paediatr Respir Rev. 2019 Nov;32:55-65. doi: 10.1016/j.prrv.2019.04.004. Epub 2019 Apr 12. Paediatr Respir Rev. 2019. PMID: 31101546 Review.

4

The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I.

Broomfield A, Sims J, Mercer J, Hensman P, Ghosh A, Tylee K, Stepien KM, Oldham A, Prathivadi Bhayankaram N, Wynn R, Wright NB, Jones SA, Wilkinson S. Broomfield A, et al. Mol Genet Metab. 2021 Feb;132(2):94-99. doi: 10.1016/j.ymgme.2020.07.004. Epub 2020 Jul 21. Mol Genet Metab. 2021. PMID: 32713717

5

Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma.

Ramaswami U, Mengel E, Berrah A, AlSayed M, Broomfield A, Donald A, Seif El Dein HM, Freisens S, Hwu WL, Peterschmitt MJ, Yoo HW, Abdelwahab M. Ramaswami U, et al. Mol Genet Metab. 2021 Aug;133(4):335-344. doi: 10.1016/j.ymgme.2021.06.009. Epub 2021 Jun 25. Mol Genet Metab. 2021. PMID: 34229967 Free article. Review.

6

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. 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

7

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.

8

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

Parini R, Broomfield A, Cleary MA, De Meirleir L, Di Rocco M, Fathalla WM, Guffon N, Lampe C, Lund AM, Scarpa M, Tylki-Szymańska A, Zeman J. Parini R, et al. Acta Paediatr. 2018 Dec;107(12):2059-2065. doi: 10.1111/apa.14587. Epub 2018 Oct 23. Acta Paediatr. 2018. PMID: 30242902 Free PMC article. Review.

9

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.

Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E, Vijay S, Santra S, Sreekantam S, Ramaswami U, Chakrapani A, Raiman J, Cleary MA, Jones SA. Broomfield A, et al. Mol Genet Metab. 2020 Feb;129(2):98-105. doi: 10.1016/j.ymgme.2019.07.016. Epub 2019 Jul 30. Mol Genet Metab. 2020. PMID: 31383595

10

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW. Alston CL, et al. Am J Hum Genet. 2020 Jan 2;106(1):92-101. doi: 10.1016/j.ajhg.2019.12.001. Epub 2019 Dec 19. Am J Hum Genet. 2020. PMID: 31866046 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

39 results

Search Page