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

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

Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency: implications for newborn screening of tyrosinemia type 1

Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients

Amino Acid Homeostasis and Fatigue in Chronic Hemodialysis Patients

Circulating de novo lipogenesis fatty acids and all-cause mortality in a prospective Dutch population cohort

Dietary methionine starvation impairs acute myeloid leukemia progression

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