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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

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

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

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries

Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease

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