Joy Lee-Yaplito

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 26 publications

An Australian standard of care for Niemann-Pick disease type C.

An Australian standard of care for Niemann-Pick disease type C.

Journal: Internal medicine journal

Published: November 17, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis.

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.

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.

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

MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.

MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.

Journal: Journal of inherited metabolic disease

Published: August 27, 2022

The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.

The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.

Journal: Molecular genetics and metabolism

Published: April 06, 2022

FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.

FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.

Journal: Molecular genetics and metabolism

Published: August 10, 2021

Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder.

Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder.

Journal: European journal of medical genetics

Published: January 25, 2021

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.

Journal: JIMD reports

Published: May 27, 2020

VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2-DAY-OLD INFANT.

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 1-12 of 26

Last Updated: 09/26/2026