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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

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

European guidelines on diagnosis and treatment of phenylketonuria: First revision

Inter-individuality in the transport and effect of phenylalanine in the brain: A double case report of two ‘unusual’ phenylketonuria patients

International Survey on Phenylketonuria Newborn Screening

Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study

The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks

Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

Press/media

Pluvia Biotech Receives European Orphan Drug Designation for Its Lead Compound for PKU

Campagne vestigt aandacht op ernst en impact van metabole ziekten