Bryony Ryder

Auckland, AUK, New Zealand

Last Updated: 09/26/2026

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Found 14 publications

Functional characterization of a biallelic MIPEP variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotonia.

Functional characterization of a biallelic MIPEP variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotonia.

Journal: Molecular genetics and metabolism reports

Published: March 25, 2026

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non-Finnish Patients.

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non-Finnish Patients.

Journal: American journal of medical genetics. Part A

Published: May 15, 2025

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

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Journal: Genome medicine

Published: September 18, 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

Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.

Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.

Journal: Free radical research

Published: December 08, 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

Exertional rhabdomyolysis following return to exercise after COVID-19 lockdown.

Exertional rhabdomyolysis following return to exercise after COVID-19 lockdown.

Journal: The New Zealand medical journal

Published: June 21, 2022

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

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

Journal: Journal of inherited metabolic disease

Published: October 01, 2020

Plasma ammonia concentrations in extremely low birthweight infants in the first week after birth: secondary analysis from the ProVIDe randomized clinical trial.

Plasma ammonia concentrations in extremely low birthweight infants in the first week after birth: secondary analysis from the ProVIDe randomized clinical trial.

Journal: Pediatric research

Published: September 30, 2019

Showing 1-12 of 14

Last Updated: 09/26/2026