Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing-Reference-Cited by-同舟云学术

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

Published:2017-05-03 Issue:11 Volume:102 Page:1019-1029
ISSN:0003-9888
Container-title:Archives of Disease in Childhood
language:en
Short-container-title:Arch Dis Child

Author:

Ghosh Arunabha^ORCID,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^ORCID

Publisher

BMJ

Subject

Pediatrics, Perinatology and Child Health

Reference41 articles.

1. Incidence of inborn errors of metabolism in British Columbia, 1969-1996;Applegarth;Pediatrics,2000

2. The incidence of inherited metabolic disorders in the West Midlands, UK;Sanderson;Arch Dis Child,2006

3. Investigation of global developmental delay;McDonald;Arch Dis Child,2006

4. The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource;van Karnebeek;Mol Genet Metab,2014

5. The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis and care for rare diseases;van Karnebeek;Orphanet J Rare Dis,2012

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