Francjan J van Spronsen - Beatrix Childrens Hosp, Univ Med Ctr Groningen

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论文共 42 篇作者统计合作学者相似作者

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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,

International journal of neonatal screeningno. 1 (2024): 20

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

Bernd C Schwahn,Francjan van Spronsen,Albert Misko,Julija Pavaine, Victoria Holmes,Ronen Spiegel,Guenter Schwarz,Flora Wong, Alistair Horman,James Pitt,Jörn Oliver Sass, Charlotte Lubout

Journal of inherited metabolic disease (2024)

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

Guillem Pintos-Morell, Maria Iascone, Giorgio Casari,Raquel Yahyaoui, Elena-Alexandra Tãtaru, Clara D. M. van Karnebeek,Francjan J. van Spronsen

Rare Disease and Orphan Drugs Journalno. 2 (2024)

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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

The New England journal of medicineno. 7 (2024): 623-629

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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,

JOURNAL OF INHERITED METABOLIC DISEASE (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（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): 108361-108361

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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

François 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,

Journal of inherited metabolic disease (2024)

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A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

Abigail Veldman, M. B. Gea Kiewiet,Dineke Westra,Annet M. Bosch,Marion M. G. Brands, Rene I. F. M. de Coo,Terry G. J. Derks,Sabine A. Fuchs,Johanna. M. P. van den Hout,Hidde H. Huidekoper,Leo A. J. Kluijtmans,Klaas Koop,

INTERNATIONAL JOURNAL OF NEONATAL SCREENINGno. 4 (2023): 56-56

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Tyrosine Metabolism

Francjan J. van Spronsen, Alberto Burlina,Carlo Dionisi Vici

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseasespp.353-364, (2022)

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