Publications by authors named "Louisa Adams"

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Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.
Louisa Adams, Arthavan Selvanathan, Kiera J Batten, Nancy van Doorn, Susan Thompson

JIMD Rep· September 2023

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The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Sarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, Louisa Adams, Carolyn Ellaway

Mol Genet Metab· January 2023

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Intronic variants in inborn errors of metabolism: Beyond the exome.
Ashley Hertzog, Arthavan Selvanathan, Elizabeth Farnsworth, Michel Tchan, Louisa Adams

Front Genet· December 2022

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The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Andre E Minoche, Clare Puttick, Louisa Adams

Genet Med· July 2020

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Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Rocio Rius, Lisa G Riley, Yiran Guo, Minal Menezes, Alison G Compton, Louisa Adams

Mol Genet Metab· January 2019

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In a child presenting with features consistent with a diagnosis of juvenile idiopathic arthritis, what clinical features or laboratory findings (at presentation) predict a diagnosis of acute lymphoblastic leukaemia?
Damien McKay, Louisa Adams, Genevieve Ostring, Davinder Singh-Grewal

J Paediatr Child Health· July 2010

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