Rebecca Heiner-Fokkema

Clinical Chemist - Inherited Metabolic Disorders Profile

Clinical Chemist - Inherited Metabolic Disorders

Dedicated to improve screening, diagnostic and monitoring procedures of patients with inherited metabolic diseases

I am committed to enhancing the lives of patients with inborn metabolic disorders through early screening and diagnostics, and by optimized monitoring strategies.

My research primarily focuses on enhancing neonatal screening and refining diagnostic and monitoring procedures for patients with inherited metabolic diseases through the use of targeted and untargeted metabolomics, integrated with data from genomics, proteomics and enzymology. I place special emphasis on patients with Phenylketonuria, Tyrosinemia Type I, and Glycogen Storage Diseases affecting the liver.

Discover our research

publication

The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside

2024, Journal of Inherited Metabolic Disease

Comment/Letter to the editor

Reply to Bouva et al. Comment on “Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66”

2024, International journal of neonatal screening

All publications

Roles

- Aspartaam in frisdrankRebecca Fokkema (Speaker) 28-Sep-2020 Professional or public presentation > Professional
- Dried blood spot monitoring in Tyrosinaemia type IRebecca Fokkema (Speaker) 23-Jan-2020 Professional or public presentation > Professional
- Aspartaam in frisdrankRebecca Fokkema (Speaker) 17-Jan-2020 Professional or public presentation > Professional
- Gedroogde bloedspot analyses voor monitoren van patiënten op afstandRebecca Fokkema (Speaker) 17-Jan-2020 Professional or public presentation > Professional
- Aspartame in soft drinks across EuropeRebecca Fokkema (Speaker) 31-Oct-2019 → 3-Nov-2019 Academic presentation > Academic
All activities

Rebecca Heiner-Fokkema

Dedicated to improve screening, diagnostic and monitoring procedures of patients with inherited metabolic diseases

Discover our research

The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside

Reply to Bouva et al. Comment on “Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66”

Roles

Contact

Footer navigatie

UMCG Research

Researchers

About UMCG

Rebecca Heiner-Fokkema

Dedicated to improve screening, diagnostic and monitoring procedures of patients with inherited metabolic diseases

Discover our research

The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside

Reply to Bouva et al. Comment on “Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66”

Roles

Activities

Contact

UMCG Research

Researchers

About UMCG