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Over ons Praktische zaken Waar vindt u ons prof. dr. F.J. (Francjan) van Spronsen
University Medical Center Groningen

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

kinderarts Erfelijke Metabole Ziekten
Profielfoto van prof. dr. F.J. (Francjan) van Spronsen
Telefoon:
050 361 1036 (secretariaat Kindergeneeskunde Metabole Ziekten)
050 361 4944 (secretariaat patientenzorg Metabole Ziekten)
050 361 4944 (secretariaat Expertise Centrum voor PKU en Tyrosinemie)
E-mail:
f.j.van.spronsen umcg.nl

Publicaties

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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