Concepedia

Lesley Heptinstall

LH

16

Publications

3.2K

Citations

15

H-Index

1989

Active since

Affiliations

Royal Manchester Children's Hospital(Current)

University of Manchester

Boston Children's Hospital

University of Liverpool

Erasmus MC

Lesley Heptinstall is an author at Royal Manchester Children's Hospital specializing in medicine, genetics, and pathology.

Top concepts

Publications per year

1989–2019

16

Publications

16

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Charles R. Newton, Alexander Graham, Lesley Heptinstall et al. · Nucleic Acids Research · 1989 · 2.5K citations · Full text

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

Jackie Imrie, Shyamal Dasgupta, G. T. N. Besley et al. · Journal of Inherited Metabolic Disease · 2006 · 130 citations

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

Jackie Imrie, Lesley Heptinstall, Stephen R Knight et al. · BMC Neurology · 2015 · 89 citations · Full text

Niemann–Pick disease type C in adults

Jackie Imrie, S. Vijayaraghaven, C. Whitehouse et al. · Journal of Inherited Metabolic Disease · 2002 · 86 citations

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

Elizabeth Vafiadaki, Alan Cooper, Lesley Heptinstall et al. · Archives of Disease in Childhood · 1998 · 80 citations · Full text

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