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breed in kennis  -  sterk in techniek
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

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study

Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial

The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria

Vitamin B12 Supplementation: Is More Always Better?

Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in theassessment of PKU patients and healthy controls

Communication of an Abnormal Metabolic Newborn Screening Result in the Netherlands: A Qualitative Exploratory Study of the General Practitioner's Perspective

Correction to: Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide (International Journal of Neonatal Screening, (2024), 10, 4, (82), 10.3390/ijns10040082)

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

European guidelines on diagnosis and treatment of phenylketonuria: First revision

Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands

Pers/media

De hielprik: drie druppels bloed, een wereld van verschil

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

Campagne vestigt aandacht op ernst en impact van metabole ziekten

Sustainable Development Goals

SDG 2 – Geen hongerSDG 3 – Goede gezondheid en welzijnSDG 4 – KwaliteitsonderwijsSDG 9 – Industrie, innovatie en infrastructuurSDG 10 – Minder ongelijkheidSDG 16 – Vrede, rechtvaardigheid en sterke instellingen

Meer informatie over de Sustainable Development Goals.