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Rijksuniversiteit Groningenfounded in 1614  -  top 100 university
Over ons Praktische zaken Waar vindt u ons dr. M.R. (Rebecca) Heiner-Fokkema
University Medical Center Groningen

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

Klinisch chemicus erfelijke metabole ziekten

Publicaties

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: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82

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

Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone

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