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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

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

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

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Press/media

Campagne vestigt aandacht op ernst en impact van metabole ziekten