Isaac T. Bernhardt
Auckland, AUK, New Zealand
Last Updated: 09/26/2026
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Found 13 publications
Medium Chain Acyl-CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis.
Journal: JIMD reports
Published: January 22, 2026
Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.
Journal: Journal of inherited metabolic disease
Published: July 06, 2025
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
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.
Journal: Molecular genetics and metabolism
Published: May 03, 2024
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Journal: Epilepsia
Published: November 02, 2022
Two cases of infantile beriberi causing cardiorespiratory arrest in New Zealand.
Journal: Journal of paediatrics and child health
Published: August 07, 2022
Exertional rhabdomyolysis following return to exercise after COVID-19 lockdown.
Journal: The New Zealand medical journal
Published: June 21, 2022
Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome.
Journal: Clinical genetics
Published: April 13, 2022
Last Updated: 09/26/2026