F. J. Van Spronsen

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个人简介

Francjan J. van Spronsen , with a long-standing research interest in the effects of abnormal amino acid concentrations for body and brain, especially in phenylketonuria (PKU) and Tyrosinemia type I.

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

Gea Kiewiet,Dineke Westra,Eddy N. de Boer,Emma van Berkel,Tom G. J. Hofste, Martine van Zweeden,Ronny C. Derks,Nico F. A. Leijsten,Martina H. A. Ruiterkamp-Versteeg,Bart Charbon,Lennart Johansson, Janneke Bos-Kruizinga, Inge J. Veenstra, Monique G. M. de van der Velden,Els Voorhoeve,M. Rebecca Heiner-Fokkema,Francjan van Spronsen,Birgit Sikkema-Raddatz,Marcel Nelen

INTERNATIONAL JOURNAL OF NEONATAL SCREENINGno. 1 (2024)

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CO182 Intelligence Quotient (IQ) Scores among Early-Treated Phenylketonuria (PKU) Patients: Results from a Systematic Literature Review (SLR)

F. O'Sullivan,I Tomazos,F. J. van Spronsen,S. M. Szabo, M. Venkataraman, L. Huria, N. Smith, L. Molony, K. Ingalls, K. Somera-Molina,C. O. Harding

Value in Healthno. 6 (2024): S51-S52

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High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease

Siawosh K. Eskandari, Elisabeth G. M. Revenich, Dirk J. Pot,Foekje de Boer,Marc Bierings,Francjan J. van Spronsen,Peter M. van Hasselt,Caroline A. Lindemans,Charlotte M. A. Lubout

NEW ENGLAND JOURNAL OF MEDICINEno. 7 (2024): 623-629

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Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: the Impact of Age and Phenylketonuria Severity

NUTRIENTSno. 17 (2024)

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Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients

Jorine C. van der Weerd,Annemiek M. J. van Wegberg, Theo S. Boer,Udo F. H. Engelke,Karlien L. M. Coene,Ron A. Wevers,Stephan J. L. Bakker,Pim de Blaauw,Joost Groen,Francjan J. van Spronsen,M. Rebecca Heiner-Fokkema

METABOLITESno. 9 (2024)

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Phenylketonuria: Modelling Cerebral Amino Acid and Neurotransmitter Metabolism

Agnieszka B. Wegrzyn,Danique van Vliet,Karen van Eunen,M. Rebecca Heiner-Fokkema,Eddy A. van der Zee,Francjan J. van Spronsen,Barbara M. Bakker

bioRxiv (Cold Spring Harbor Laboratory) (2024)

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Satisfaction with Home Blood Sampling Methods and Expectations for Future Point-of-care Testing in Phenylketonuria: Perspectives from Patients and Professionals

Allysa M. Kuypers, Kimber Evers-van Vliet,Anita Macdonald,Kirsten Ahring, David Abeln,Suzanne Ford, Sanne Hildebrandt-Karlsen,Francjan J. van Spronsen,M. Rebecca Heiner-Fokkema

MOLECULAR GENETICS AND METABOLISMno. 1 (2024)

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The Clinical Relevance of Novel Biomarkers As Outcome Parameter in Adults with Phenylketonuria

A. M. J. van Wegberg, J. C. van der Weerd,U. F. H. Engelke,K. L. M. Coene, R. Jahja,S. J. L. Bakker,S. C. J. Huijbregts,R. A. Wevers,M. R. Heiner-Fokkema,F. J. van Spronsen

JOURNAL OF INHERITED METABOLIC DISEASEno. 4 (2024): 624-635

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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

Francois Feillet,Can Ficicioglu,Florian B. Lagler,Nicola Longo,Ania C. Muntau,Alberto Burlina,Friedrich K. Trefz,Francjan J. van Spronsen,Jean-Baptiste Arnoux,Kristin Lindstrom,Joshua Lilienstein,Gillian E. Clague,Richard Rowell,Barbara K. Burton

JOURNAL OF INHERITED METABOLIC DISEASEno. 4 (2024): 636-650

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