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Over ons Praktische zaken Waar vindt u ons dr. M.R. (Rebecca) Heiner-Fokkema

Publicaties

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

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

The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside

Creatine homeostasis and the kidney: comparison between kidney transplant recipients and healthy controls

Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients

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”

Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals

The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria