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

Publicaties

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

Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease

Lees meer