Sharmila Kiss
Melbourne, VIC, Australia
Last Updated: 09/26/2026
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Found 8 publications
An Australian standard of care for Niemann-Pick disease type C.
Journal: Internal medicine journal
Published: November 17, 2025
Neurological Outcomes of Newborn Screening-Identified Isovaleric Acidemia: A Case Series Exploring Initial C5 Acylcarnitine Levels.
Journal: JIMD reports
Published: October 21, 2025
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
Journal: JIMD reports
Published: September 15, 2025
Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis.
Journal: JIMD reports
Published: February 01, 2024
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant.
Journal: Journal of inherited metabolic disease
Published: March 08, 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.
Journal: American journal of medical genetics. Part A
Published: November 20, 2022
Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia.
Journal: JIMD reports
Published: May 07, 2020
VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2-DAY-OLD INFANT.
Journal: Journal of paediatrics and child health
Published: November 25, 2019
Showing 1-8 of 8
Last Updated: 09/26/2026