Ghosh A - Search Results

1

Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.

Carling RS, Hedgethorne K, Chakrapani A, Hall PL, Flynn N, Greenfield T, Moat SJ, Ssali J, Shakespeare L, Taj N, Wu THY, Anderson M, Ghosh A, Lemonde H, Pierre G, Sharrard M, Sreekantam S, Bonham JR. Carling RS, et al. Among authors: ghosh a. Int J Neonatal Screen. 2024 Mar 13;10(1):24. doi: 10.3390/ijns10010024. Int J Neonatal Screen. 2024. PMID: 38535128 Free PMC article.

2

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. Hum Mutat. 2017 Nov;38(11):1555-1568. doi: 10.1002/humu.23301. Epub 2017 Aug 17. Hum Mutat. 2017. PMID: 28752568

3

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. Among authors: ghosh a. 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

4

Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I.

Ghosh A, Liao A, O'Leary C, Mercer J, Tylee K, Goenka A, Holley R, Jones SA, Bigger BW. Ghosh A, et al. Mol Ther Methods Clin Dev. 2019 Mar 2;13:321-333. doi: 10.1016/j.omtm.2019.02.007. eCollection 2019 Jun 14. Mol Ther Methods Clin Dev. 2019. PMID: 30976609 Free PMC article.

5

Recognition, assessment and management of hypoglycaemia in childhood.

Ghosh A, Banerjee I, Morris AAM. Ghosh A, et al. Arch Dis Child. 2016 Jun;101(6):575-580. doi: 10.1136/archdischild-2015-308337. Epub 2015 Dec 30. Arch Dis Child. 2016. PMID: 26718813 Review.

6

Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A.

Ghosh A, Urquhart J, Daly S, Ferguson A, Scotcher D, Morris AAM, Clayton-Smith J. Ghosh A, et al. J Child Neurol. 2017 May;32(6):560-565. doi: 10.1177/0883073817696816. Epub 2017 Mar 16. J Child Neurol. 2017. PMID: 28424003

7

Continuous glucose monitoring for hypoglycaemia in children: Perspectives in 2020.

Worth C, Dunne M, Ghosh A, Harper S, Banerjee I. Worth C, et al. Among authors: ghosh a. Pediatr Diabetes. 2020 Aug;21(5):697-706. doi: 10.1111/pedi.13029. Epub 2020 May 4. Pediatr Diabetes. 2020. PMID: 32315515 Review.

8

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: ghosh 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

9

Prolidase deficiency in an infant with an incidental finding of methaemoglobinaemia.

Tan CY, Kothandaraman E, Ghosh A. Tan CY, et al. Among authors: ghosh a. BMJ Case Rep. 2021 Nov 18;14(11):e244155. doi: 10.1136/bcr-2021-244155. BMJ Case Rep. 2021. PMID: 34794975 Free PMC article.

10

High dose genistein in Sanfilippo syndrome: A randomised controlled trial.

Ghosh A, Rust S, Langford-Smith K, Weisberg D, Canal M, Breen C, Hepburn M, Tylee K, Vaz FM, Vail A, Wijburg F, O'Leary C, Parker H, Wraith JE, Bigger BW, Jones SA. Ghosh A, et al. J Inherit Metab Dis. 2021 Sep;44(5):1248-1262. doi: 10.1002/jimd.12407. Epub 2021 Jun 13. J Inherit Metab Dis. 2021. PMID: 34047372 Clinical Trial.

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