Emma E. Glamuzina

Auckland, AUK, New Zealand

Last Updated: 09/26/2026

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Found 29 publications

Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (GYG1) missense variants.

Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (GYG1) missense variants.

Journal: The Journal of clinical endocrinology and metabolism

Published: March 26, 2026

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.

Journal: Journal of inherited metabolic disease

Published: November 12, 2024

D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS).

D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS).

Journal: JIMD reports

Published: August 14, 2024

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.

Journal: Molecular genetics and metabolism

Published: May 03, 2024

Neuronal intranuclear inclusion disease in New Zealand: A novel discovery.

Neuronal intranuclear inclusion disease in New Zealand: A novel discovery.

Journal: Journal of the neurological sciences

Published: January 16, 2024

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.

Journal: Journal of inherited metabolic disease

Published: July 17, 2023

Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.

Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.

Journal: Molecular genetics and metabolism

Published: June 15, 2023

Mitochondrial disease in New Zealand: a nationwide prevalence study.

Mitochondrial disease in New Zealand: a nationwide prevalence study.

Journal: Internal medicine journal

Published: March 18, 2023

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

Journal: Journal of medical genetics

Published: February 16, 2023

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.

Journal: JIMD reports

Published: November 10, 2022

Two cases of infantile beriberi causing cardiorespiratory arrest in New Zealand.

Two cases of infantile beriberi causing cardiorespiratory arrest in New Zealand.

Journal: Journal of paediatrics and child health

Published: August 07, 2022

The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.

The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.

Journal: JIMD reports

Published: June 26, 2022

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Last Updated: 09/26/2026