Skip to ContentSkip to Navigation
founded in 1614  -  top 100 university
About us Practical matters How to find us dr. M.R. (Rebecca) Heiner-Fokkema
University Medical Center Groningen

dr. M.R. (Rebecca) Heiner-Fokkema

Clinical chemist, inborn errors metabolism
No picture available
E-mail:
m.r.heiner umcg.nl

Publications

Proteomics profiling of serum and liver in GSD ia and Ib patients: insights into complication mechanisms and circulation biomarkers

Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in theassessment of PKU patients and healthy controls

A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles

Correction to: Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide (International Journal of Neonatal Screening, (2024), 10, 4, (82), 10.3390/ijns10040082)

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands

Inter-individuality in the transport and effect of phenylalanine in the brain: A double case report of two ‘unusual’ phenylketonuria patients

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines

Reducing False Positives in Newborn Screening: The Role of Perinatal Factors in the Dutch NBS Program