Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
About this item
Full title
Author / Creator
Ghosh, Arunabha , Schlecht, Helene , Heptinstall, Lesley E , Bassett, John K , Cartwright, Eleanor , Bhaskar, Sanjeev S , Urquhart, Jill , Broomfield, Alexander , Morris, Andrew AM , Jameson, Elisabeth , Schwahn, Bernd C , Walter, John H , Douzgou, Sofia , Murphy, Helen , Hendriksz, Chris , Sharma, Reena , Wilcox, Gisela , Crushell, Ellen , Monavari, Ardeshir A , Martin, Richard , Doolan, Anne , Senniappan, Senthil , Ramsden, Simon C , Jones, Simon A and Banka, Siddharth
Publisher
England: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Subjects
More information
Scope and Contents
Contents
BackgroundInborn errors of metabolism (IEMs) underlie a substantial proportion of paediatric disease burden but their genetic diagnosis can be challenging using the traditional approaches.MethodsWe designed and validated a next-generation sequencing (NGS) panel of 226 IEM genes, created six overlapping phenotype-based subpanels and tested 102 indiv...
Alternative Titles
Full title
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
Authors, Artists and Contributors
Author / Creator
Schlecht, Helene
Heptinstall, Lesley E
Bassett, John K
Cartwright, Eleanor
Bhaskar, Sanjeev S
Urquhart, Jill
Broomfield, Alexander
Morris, Andrew AM
Jameson, Elisabeth
Schwahn, Bernd C
Walter, John H
Douzgou, Sofia
Murphy, Helen
Hendriksz, Chris
Sharma, Reena
Wilcox, Gisela
Crushell, Ellen
Monavari, Ardeshir A
Martin, Richard
Doolan, Anne
Senniappan, Senthil
Ramsden, Simon C
Jones, Simon A
Banka, Siddharth
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1895274024
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1895274024
Other Identifiers
ISSN
0003-9888
E-ISSN
1468-2044
DOI
10.1136/archdischild-2017-312738
