Jim J. Mcgill

501 Stanley Street
South Brisbane, QLD 4101, Australia

Last Updated: 09/26/2026

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Found 28 publications

A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland.

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.

Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency.

Journal: JIMD reports

Published: July 11, 2025

Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease.

Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease.

Journal: JIMD reports

Published: June 28, 2025

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration.

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration.

Journal: JIMD reports

Published: June 28, 2025

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 04, 2024

Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.

Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.

Journal: Clinical chemistry

Published: February 09, 2023

N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.

N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.

Journal: JIMD reports

Published: May 07, 2022

Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and α1-fetoprotein normalization.

Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and α1-fetoprotein normalization.

Journal: Pediatric transplantation

Published: November 14, 2021

Successful management of severe coronoid process hyperplasia in a patient with mucopolysaccharidosis VI: a case report.

Successful management of severe coronoid process hyperplasia in a patient with mucopolysaccharidosis VI: a case report.

Journal: Journal of surgical case reports

Published: November 28, 2019

Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging.

Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging.

Journal: American journal of medical genetics. Part A

Published: October 22, 2019

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.

Journal: Orphanet journal of rare diseases

Published: January 02, 2019

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.

Journal: Orphanet journal of rare diseases

Published: December 10, 2018

Showing 1-12 of 28

Last Updated: 09/26/2026