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About us Practical matters How to find us prof. dr. F.J. (Francjan) van Spronsen
University Medical Center Groningen

prof. dr. F.J. (Francjan) van Spronsen

pediatrician Inherited Metabolic Diseases
Profile picture of prof. dr. F.J. (Francjan) van Spronsen
Telephone:
+31 50 361 1036 (secretary Metabolic Diseases Pediatrics)
+31 50 361 4944 (secretary Patient Care Metabolic Diseases Pedicatrics)
+31 50 361 4944 (Center of Expertise for PKU and Tyrosinemia)
E-mail:
f.j.van.spronsen umcg.nl

Publications

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

Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism

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

Newborn screening for primary carnitine deficiency: Who will benefit? - A retrospective cohort study

Caring for Ukrainian refugee children with acute and chronic diseases

Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective

Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?

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Press/media

Campagne vestigt aandacht op ernst en impact van metabole ziekten