Concepedia

Author

Lesley Heptinstall

Royal Manchester Children's Hospital

Also Known As

L E Heptinstall, L. E. Heptinstall, L. Heptinstall, L.E. Heptinstall, Lesley E Heptinstall, Lesley Heptinstall

24

Publications

3.2K

Citations

15

H-Index

51

Concepts

All Affiliations

Royal Manchester Children's HospitalUniversity of ManchesterBoston Children's HospitalUniversity of LiverpoolErasmus MC
LH

About

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

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

10

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2.7K

2

Natural Sciences

2

2

2.5K

3

Engineering

1

1

19

4

Health Sciences

1

1

16

5

Public Health

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10

Lesley Heptinstall

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16

Publications

3.2K

Citations

15

H-Index

YearCitations

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

Charles R. Newton, Alexander Graham, Lesley Heptinstall,

Nucleic Acids Research

1989

2.5K

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

Jackie Imrie, Shyamal Dasgupta, G. T. N. Besley,

Journal of Inherited Metabolic Disease

2006

130

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,

BMC Neurology

2015

89

Niemann–Pick disease type C in adults

Jackie Imrie, S. Vijayaraghaven, C. Whitehouse,

Journal of Inherited Metabolic Disease

2002

86

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

Elizabeth Vafiadaki, Alan Cooper, Lesley Heptinstall,

Archives of Disease in Childhood

1998

80

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

Arunabha Ghosh, Hélene Schlecht, Lesley Heptinstall,

Archives of Disease in Childhood

2017

68

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on<i>GNPTAB</i>and<i>GNPTG</i>mutations

Renata Voltolini Velho, Frederike L. Harms, Tatyana Danyukova,

Human Mutation

2019

50

Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin

Catherine Breen, F. White, Charlotte Angus Scott,

European Journal of Pediatrics

2013

22

Galactosaemia: relationship of IQ to biochemical control and genotype

Maureen Cleary, Lesley Heptinstall, J. E. Wraith,

Journal of Inherited Metabolic Disease

1995

22

ΔF508 testing of the DNA bank of the Royal Manchester Children's Hospital

Martin Schwarz, M Super, C. Wallis,

Human Genetics

1990

21

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