Sophie Manoy
5PUBLICATIONS
12CO-AUTHORS
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Publications (5)
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|Mar 02, 2026
Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration.Matthew Lynch, Sophie Manoy, Claire Murray
|Feb 25, 2026
Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency.Sophie Manoy, Tahlee Minto, Kalliope Demetriou
|Feb 05, 2026
A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland.Sophie Manoy, Sally Smith, Marita Smith
|Dec 12, 2025
Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease.Sophie Manoy, Claire Murray, Matthew Lynch
|Aug 04, 2025
Massively Parallel Sequencing: Successes, Limitations and the Future for Inborn Errors of Metabolism.Sophie Manoy, Pauline McGrath, Sally Smith
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Frequent Collaborators
3 joint publications
David Coman
2 joint publications
Claire Murray
2 joint publications
Matthew Lynch
2 joint publications
Carolyn Bursle
2 joint publications
Michelle Lipke
2 joint publications
Jim McGill
2 joint publications
Anita Inwood
1 joint publications
Tahlee Minto
1 joint publications
Marita Smith
1 joint publications
Janette Spicer
