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van Spronsen, Francjan J.
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1

Blood Phenylalanine Levels in Patients with Phenylketonuria..:

Pinto, Alex ; Ahring, Kirsten ; Almeida, Manuela Ferreira...
Nutrients.  16 (2024)  13 - p. 2064 , 2024
Link: https://doi.org/10.3390/..
 
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2

Future of Dutch NGS-Based Newborn Screening: Exploring the ..:

Kiewiet, Gea ; Westra, Dineke ; de Boer, Eddy N....
International Journal of Neonatal Screening.  10 (2024)  1 - p. 20 , 2024
Link: https://doi.org/10.3390/..
 
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3

Efficacy and safety of sapropterin before and during pregna..:

Feillet, François ; Ficicioglu, Can ; Lagler, Florian B....
Journal of Inherited Metabolic Disease.  47 (2024)  4 - p. 636-650 , 2024
Link: https://doi.org/10.1002/..
 
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4

Consensus guidelines for the diagnosis and management of is..:

Schwahn, Bernd C. ; van Spronsen, Francjan ; Misko, Albert...
Journal of Inherited Metabolic Disease.  47 (2024)  4 - p. 598-623 , 2024
Link: https://doi.org/10.1002/..
 
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5

Satisfaction with home blood sampling methods and expectati..:

Kuypers, Allysa M. ; Vliet, Kimber Evers-van ; MacDonald, Anita...
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108361 , 2024
Link: https://doi.org/10.1016/..
 
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6

A Delphi Survey Study to Formulate Statements on the Treata..:

Veldman, Abigail ; Kiewiet, M. B. Gea ; Westra, Dineke...
International Journal of Neonatal Screening.  9 (2023)  4 - p. 56 , 2023
Link: https://doi.org/10.3390/..
 
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7

A False-Negative Newborn Screen for Tyrosinemia Type 1—Need..:

Dijkstra, Allysa M. ; Evers-van Vliet, Kimber ; Heiner-Fokkema, M. Rebecca...
International Journal of Neonatal Screening.  9 (2023)  4 - p. 66 , 2023
Link: https://doi.org/10.3390/..
 
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8

Newborn screening for primary carnitine deficiency: who wil..:

Crefcoeur, Loek ; Ferdinandusse, Sacha ; van der Crabben, Saskia N...
Journal of Medical Genetics.  60 (2023)  12 - p. 1177-1185 , 2023
Link: https://doi.org/10.1136/..
 
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9

Important Lessons on Long-Term Stability of Amino Acids in ..:

Dijkstra, Allysa M. ; de Blaauw, Pim ; van Rijt, Willemijn J....
International Journal of Neonatal Screening.  9 (2023)  3 - p. 34 , 2023
Link: https://doi.org/10.3390/..
 
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10

Dietary Liberalization in Tetrahydrobiopterin-Treated PKU P..:

Evers, Roeland A. F. ; van Wegberg, Annemiek M. J. ; MacDonald, Anita...
Nutrients.  14 (2022)  18 - p. 3874 , 2022
Link: https://doi.org/10.3390/..
 
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11

Meta-analyses of cognitive functions in early-treated adult..:

Romani, Cristina ; Olson, Andrew ; Aitkenhead, Lynne...
Neuroscience & Biobehavioral Reviews.  143 (2022)  - p. 104925 , 2022
Link: https://doi.org/10.1016/..
 
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12

Communication of an Abnormal Metabolic New-Born Screening R..:

Haitjema, Sietske ; Lubout, Charlotte M. A. ; Zijlstra, Justine H. M...
Nutrients.  14 (2022)  19 - p. 3961 , 2022
Link: https://doi.org/10.3390/..
 
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13

Disorders of Phenylalanine and Tetrahydrobiopterin Metaboli..:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,
Burlina, Alberto ; van Spronsen, Francjan J. ; Blau, Nenad - p. 331-351 , 2022
Link: https://doi.org/10.1007/..
 
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14

Gut-Microbiome Composition in Response to Phenylketonuria D..:

van der Goot, Els ; Vink, Stefanie N. ; van Vliet, Danique...
Frontiers in Nutrition.  8 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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15

Dietary treatment in Dutch children with phenylketonuria: A..:

Haitjema, Sietske ; Lubout, Charlotte M.A. ; Abeln, David...
Nutrition.  97 (2022)  - p. 111576 , 2022
Link: https://doi.org/10.1016/..
 
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