Sharmila Kiss

8PUBLICATIONS
23CO-AUTHORS
Cancer diagnosisInfant and child healthMetabolic medicineCancer geneticsNeonatology
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Publications (8)

|May 21, 2026
Neurological Outcomes of Newborn Screening-Identified Isovaleric Acidemia: A Case Series Exploring Initial C5 Acylcarnitine Levels.

|Mar 13, 2026
An Australian standard of care for Niemann-Pick disease type C.

Michel Tchan, Nicholas Smith, Heidi Peters

|Feb 03, 2026
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

Sharmila Kiss, Richard J Leventer, Cormac Duff

|Jul 08, 2024
Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis.

Oliver Heath, Brooke Allender, Joel Smith

|Apr 28, 2023
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant.

Isabelle Adant, Joy Yaplito-Lee, Sharmila Kiss

|Mar 10, 2023
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.

Sharmila Kiss, John Christodoulou, David R Thorburn

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Frequent Collaborators

2 joint publications

Joy Yaplito-Lee

2 joint publications

Maureen S Evans

1 joint publications

Ronda F Greaves

1 joint publications

John Christodoulou