Emma Glamuzina

发表

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

A. Vanderver, I. Thiffault, B. Brais, 2023, Journal of Medical Genetics.

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

P. Striano, H. Prokisch, Matteo P. Ferla, 2022, Human mutation.

New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches

K. Bhattacharya, M. Inbar‐Feigenberg, E. Glamuzina, 2021, Journal of inherited metabolic disease.

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

A. Munnich, A. Mamoune, S. Rahman, 2012, Journal of Inherited Metabolic Disease.

Cardiomyopathy as presenting sign of glycogenin-1 deficiency—report of three cases and review of the literature

C. Occleshaw, L. Anderson, P. Elliott, 2016, Journal of Inherited Metabolic Disease.

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

E. Glamuzina, D. Webster, B. Ryder, 2022, JIMD reports.

Genotype–phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations

M. Bennett, E. Glamuzina, K. Carpenter, 2022, JIMD reports.

The decision to discontinue screening for carnitine uptake disorder in New Zealand

E. Glamuzina, Callum Wilson, D. Webster, 2018, Journal of inherited metabolic disease.

The decision to discontinue screening for carnitine uptake disorder in New Zealand

E. Glamuzina, Callum Wilson, D. Webster, 2018, Journal of Inherited Metabolic Disease.

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

M. Minczuk, J. C. Jacobsen, R. Snell, 2023, JIMD reports.

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

D. Saunders, S. Rahman, E. Glamuzina, 2012, Journal of Inherited Metabolic Disease.

Two cases of infantile beriberi causing cardiorespiratory arrest in New Zealand

E. Glamuzina, B. Ryder, Isaac Bernhardt, 2023, Journal of paediatrics and child health.

Fatal hyperammonemia associated with disseminated Serratia marcescens infection in a pediatric liver transplant recipient

E. Glamuzina, E. Best, H. Evans, 2018, Pediatric transplantation.