Michelle Lipke
South Brisbane, QLD, Australia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland.
Journal: Journal of paediatrics and child health
Published: August 14, 2025
Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency.
Journal: JIMD reports
Published: July 11, 2025
Massively Parallel Sequencing: Successes, Limitations and the Future for Inborn Errors of Metabolism.
Journal: Journal of paediatrics and child health
Published: January 28, 2025
Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia.
Journal: Molecular genetics and metabolism
Published: February 07, 2024
N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.
Journal: JIMD reports
Published: May 07, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Journal: European journal of human genetics : EJHG
Published: October 08, 2021
Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.
Journal: JIMD reports
Published: April 26, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 23, 2017
Showing 1-9 of 9
Last Updated: 09/26/2026