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Publications

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

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

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

The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside

Types of fish consumption differ across socioeconomic strata and impact differently on plasma fish-based omega-3 fatty acids: a cross-sectional study

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone

Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns

Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots

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