Church HJ - Search Results

1

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.

Pavlova EV, Lev D, Michelson M, Yosovich K, Michaeli HG, Bright NA, Manna PT, Dickson VK, Tylee KL, Church HJ, Luzio JP, Cox TM. Pavlova EV, et al. Among authors: church hj. Hum Mutat. 2022 Dec;43(12):2265-2278. doi: 10.1002/humu.24479. Epub 2022 Oct 8. Hum Mutat. 2022. PMID: 36153662 Free PMC article.

2

Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease.

Church H, Tylee K, Cooper A, Thornley M, Mercer J, Wraith E, Carr T, O'Meara A, Wynn RF. Church H, et al. Bone Marrow Transplant. 2007 Feb;39(4):207-10. doi: 10.1038/sj.bmt.1705569. Epub 2007 Jan 15. Bone Marrow Transplant. 2007. PMID: 17220904

3

Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy.

Wynn RF, Wraith JE, Mercer J, O'Meara A, Tylee K, Thornley M, Church HJ, Bigger BW. Wynn RF, et al. Among authors: church hj. J Pediatr. 2009 Apr;154(4):609-11. doi: 10.1016/j.jpeds.2008.11.005. J Pediatr. 2009. PMID: 19324223 Clinical Trial.

4

Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H).

Gardner CJ, Robinson N, Meadows T, Wynn R, Will A, Mercer J, Church HJ, Tylee K, Wraith JE, Clayton PE. Gardner CJ, et al. Among authors: church hj. J Inherit Metab Dis. 2011 Apr;34(2):489-97. doi: 10.1007/s10545-010-9262-8. Epub 2011 Jan 21. J Inherit Metab Dis. 2011. PMID: 21253827

5

The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome).

Miebach E, Church H, Cooper A, Mercer J, Tylee K, Wynn RF, Wraith JE. Miebach E, et al. J Inherit Metab Dis. 2011 Jun;34(3):755-61. doi: 10.1007/s10545-011-9309-5. Epub 2011 Mar 17. J Inherit Metab Dis. 2011. PMID: 21416193

6

Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene.

Gottwald I, Hughes J, Stewart F, Tylee K, Church H, Jones SA. Gottwald I, et al. Mol Genet Metab. 2011 Jul;103(3):300-2. doi: 10.1016/j.ymgme.2011.03.024. Epub 2011 Apr 7. Mol Genet Metab. 2011. PMID: 21514195

7

Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapy.

Saif MA, Bigger BW, Brookes KE, Mercer J, Tylee KL, Church HJ, Bonney DK, Jones S, Wraith JE, Wynn RF. Saif MA, et al. Among authors: church hj. Haematologica. 2012 Sep;97(9):1320-8. doi: 10.3324/haematol.2011.058644. Epub 2012 Feb 27. Haematologica. 2012. PMID: 22371174 Free PMC article.

8

Diagnosing mucopolysaccharidosis IVA.

Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. Wood TC, et al. Among authors: church hj. J Inherit Metab Dis. 2013 Mar;36(2):293-307. doi: 10.1007/s10545-013-9587-1. Epub 2013 Feb 1. J Inherit Metab Dis. 2013. PMID: 23371450 Free PMC article.

9

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N. Morrone A, et al. Among authors: church hj. Mol Genet Metab. 2014 Jun;112(2):160-70. doi: 10.1016/j.ymgme.2014.03.004. Epub 2014 Mar 20. Mol Genet Metab. 2014. PMID: 24726177 Free PMC article.

10

Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.

Langereis EJ, van Vlies N, Church HJ, Geskus RB, Hollak CE, Jones SA, Kulik W, van Lenthe H, Mercer J, Schreider L, Tylee KL, Wagemans T, Wijburg FA, Bigger BW. Langereis EJ, et al. Among authors: church hj. Mol Genet Metab. 2015 Feb;114(2):129-37. doi: 10.1016/j.ymgme.2014.10.012. Epub 2014 Oct 29. Mol Genet Metab. 2015. PMID: 25467058

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