Heptinstall LE - Search Results

1

Common MCAD mutation in a healthy parent of two affected siblings.

Heptinstall LE, Till J, Wraith JE, Besley GT. Heptinstall LE, et al. J Inherit Metab Dis. 1995;18(5):638-9. doi: 10.1007/BF02436011. J Inherit Metab Dis. 1995. PMID: 8598647 No abstract available.

2

Niemann-Pick disease type C in adults.

Imrie J, Vijayaraghaven S, Whitehouse C, Harris S, Heptinstall L, Church H, Cooper A, Besley GT, Wraith JE. Imrie J, et al. J Inherit Metab Dis. 2002 Oct;25(6):491-500. doi: 10.1023/a:1021259403196. J Inherit Metab Dis. 2002. PMID: 12555942

3

Galactosaemia: relationship of IQ to biochemical control and genotype.

Cleary MA, Heptinstall LE, Wraith JE, Walter JH. Cleary MA, et al. Among authors: heptinstall le. J Inherit Metab Dis. 1995;18(2):151-2. doi: 10.1007/BF00711752. J Inherit Metab Dis. 1995. PMID: 7564232 No abstract available.

4

Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria.

Besley GT, Lendon M, Broadhead DM, Till J, Heptinstall LE, Phillips B. Besley GT, et al. Among authors: heptinstall le. J Inherit Metab Dis. 1995;18(2):221-3. doi: 10.1007/BF00711772. J Inherit Metab Dis. 1995. PMID: 7564252 No abstract available.

5

The natural history of Niemann-Pick disease type C in the UK.

Imrie J, Dasgupta S, Besley GT, Harris C, Heptinstall L, Knight S, Vanier MT, Fensom AH, Ward C, Jacklin E, Whitehouse C, Wraith JE. Imrie J, et al. J Inherit Metab Dis. 2007 Feb;30(1):51-9. doi: 10.1007/s10545-006-0384-7. Epub 2006 Dec 11. J Inherit Metab Dis. 2007. PMID: 17160617

6

Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).

Vafiadaki E, Cooper A, Heptinstall LE, Hatton CE, Thornley M, Wraith JE. Vafiadaki E, et al. Among authors: heptinstall le. Arch Dis Child. 1998 Sep;79(3):237-41. doi: 10.1136/adc.79.3.237. Arch Dis Child. 1998. PMID: 9875019 Free PMC article.

7

A family with Leigh syndrome caused by the rarer T8993C mutation.

Chakrapani A, Heptinstall L, Walter J. Chakrapani A, et al. J Inherit Metab Dis. 1998 Aug;21(6):685-6. doi: 10.1023/a:1005401121344. J Inherit Metab Dis. 1998. PMID: 9762610 No abstract available.

8

A deletion mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) locus: Delta I507.

Schwarz M, Summers C, Heptinstall L, Newton C, Markham A, Super M. Schwarz M, et al. Adv Exp Med Biol. 1991;290:393-8. doi: 10.1007/978-1-4684-5934-0_48. Adv Exp Med Biol. 1991. PMID: 1719770

9

Delta F508 testing of the DNA bank of the Royal Manchester Children's Hospital.

Schwarz MJ, Super M, Wallis C, Beighton P, Newton C, Heptinstall LE, Summers C, Markham A, Hambleton G, Webb KW, et al. Schwarz MJ, et al. Among authors: heptinstall le. Hum Genet. 1990 Sep;85(4):428-30. doi: 10.1007/BF02428298. Hum Genet. 1990. PMID: 2210763

10

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.

Imrie J, Heptinstall L, Knight S, Strong K. Imrie J, et al. BMC Neurol. 2015 Dec 15;15:257. doi: 10.1186/s12883-015-0511-1. BMC Neurol. 2015. PMID: 26666848 Free PMC article.

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