Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Isaac Bernhardt

5PUBLICATIONS
6CO-AUTHORS
NeonatologyMedical biochemistry - carbohydratesBiofabricationInfant and child health
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (5)

Sort by Publication Date:
|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

|Jan 23, 2023
Two cases of infantile beriberi causing cardiorespiratory arrest in New Zealand.

Oliver Coleman, Leeyan Gilmour, Rebecca Smith

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

Isaac Bernhardt, Emma Glamuzina, Leah K Dowsett

Pageof 1

Frequent Collaborators

1 joint publications

Oliver Coleman

1 joint publications

Leeyan Gilmour

1 joint publications

Callum Wilson

1 joint publications

Polona Le Quesne Stabej

1 joint publications

Claire Hart

1 joint publications

James Davison

Frequent Collaborators

1 joint publications

Oliver Coleman

1 joint publications

Leeyan Gilmour

1 joint publications

Callum Wilson

1 joint publications

Polona Le Quesne Stabej

Top Related Videos

Genetic Engineering of an Unconventional Yeast for Renewable Biofuel and Biochemical Production
10:10

Genetic Engineering of an Unconventional Yeast for Renewable Biofuel and Biochemical Production

Published on : Sep 20, 2016

15.0K
Quantification of Coenzyme A in Cells and Tissues
08:51

Quantification of Coenzyme A in Cells and Tissues

Published on : Sep 27, 2019

8.4K
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on : Jun 25, 2010

13.2K
See more related videos

Top Related Videos

Genetic Engineering of an Unconventional Yeast for Renewable Biofuel and Biochemical Production
10:10

Genetic Engineering of an Unconventional Yeast for Renewable Biofuel and Biochemical Production

Published on : Sep 20, 2016

15.0K
Quantification of Coenzyme A in Cells and Tissues
08:51

Quantification of Coenzyme A in Cells and Tissues

Published on : Sep 27, 2019

8.4K
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on : Jun 25, 2010

13.2K
See more related videos