Isaac Bernhardt

7PUBLICATIONS
16CO-AUTHORS
Medical biochemistry - carbohydratesGene expression (incl. microarray and other genome-wide approaches)NeonatologyInfant and child health
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Publications (7)

|Aug 11, 2026
Medium Chain Acyl-CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis.

|Jul 24, 2026
Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.

|Jan 19, 2026
Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non-Finnish Patients.

Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart

|Jan 08, 2024
Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin.

I Bernhardt, L Van Dorp, M Dixon

|Mar 06, 2023
The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.

Isaac Bernhardt, Emma Glamuzina, Bryony Ryder

|Jul 13, 2022
Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations.

Isaac Bernhardt, Emma Glamuzina, Leah K Dowsett

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Frequent Collaborators

1 joint publications

Oliver Coleman

1 joint publications

Leeyan Gilmour

1 joint publications

Callum Wilson

1 joint publications

Polona Le Quesne Stabej