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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

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

Pers/media

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

Campagne vestigt aandacht op ernst en impact van metabole ziekten