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van Spronsen, FJ.
13  Ergebnisse:
Personensuche X
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1

CO182 Intelligence Quotient (IQ) Scores Among Early-Treated..:

O'Sullivan, F. ; Tomazos, I. ; van Spronsen, FJ....
Value in Health.  27 (2024)  6 - p. S51-S52 , 2024
Link: https://doi.org/10.1016/..
 
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2

Effect of BH4 on blood phenylalanine and tyrosine variation..:

van Wegberg, AMJ ; Evers, RAF ; Burgerhof, JGM...
Molecular Genetics and Metabolism.  133 (2021)  1 - p. 49-55 , 2021
Link: https://doi.org/10.1016/..
 
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3

Pre‐eclampsia in a woman whose child suffered from lethal c..:

Geven, WB ; Niezen‐Koning, KE ; Timmer, A...
BJOG: An International Journal of Obstetrics & Gynaecology.  114 (2007)  8 - p. 1028-1030 , 2007
Link: https://doi.org/10.1111/..
 
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4

Does impaired growth of PKU patients correlate with the str..:

van Spronsen, FJ ; Verkerk, PH ; van Houten, M...
Acta Paediatrica.  86 (1997)  8 - p. 816-818 , 1997
Link: https://doi.org/10.1111/..
 
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5

Neurocognitive outcome and mental health in children with t..:

van Vliet, K ; van Ginkel, WG ; Jahja, R...
https://discovery.ucl.ac.uk/id/eprint/10152449/1/J%20of%20Inher%20Metab%20Disea%20-%202022%20-%20Vliet%20-%20Neurocognitive%20outcome%20and%20mental%20health%20in%20children%20with%20tyrosinemia%20type%201%20and.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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6

A generic emergency protocol for patients with inborn error..:

Rossi, A ; Hoogeveen, IJ ; Lubout, CMA...
https://discovery.ucl.ac.uk/id/eprint/10149887/1/J%20of%20Inher%20Metab%20Disea%20-%202021%20-%20Rossi%20-%20A%20generic%20emergency%20protocol%20for%20patients%20with%20inborn%20errors%20of%20metabolism%20causing.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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7

Undiagnosed Phenylketonuria Can Exist Everywhere: Results F..:

van Wegberg, AMJ ; Trefz, F ; Gizewska, M...
https://discovery.ucl.ac.uk/id/eprint/10138441/1/Baruteau_Undiagnosed%20Phenylketonuria%20Can%20Exist%20Everywhere-%20Results%20From%20an%20International%20Survey_VoR.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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8

A nationwide retrospective observational study of populatio..:

Jager, EA ; Kuijpers, MM ; Bosch, AM...
Jager , EA , Kuijpers , MM , Bosch , AM , Mulder , MF , Gozalbo , ER , Visser , G , Boersma - de Vries , M , Williams , M , Waterham , HR , van Spronsen , FJ , Schielen , P & Derks , TGJ 2019 , ' A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 890-897 . https://doi.org/10.1002/jimd.12102.  , 2019
Link: https://pure.eur.nl/en/p..
 
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9

Pathogenic variants in glutamyl-tRNAGlnamidotransferase sub..:

Friederich MW ; Timal S ; Powell CA...
info:eu-repo/semantics/altIdentifier/wos/WOS:000446333400005.  , 2018
Link: http://hdl.handle.net/11..
 
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10

Pyridoxine dependent epilepsy: Is late onset a predictor fo..:

de Rooy, RLP ; Halbertsma, FJ ; Struijs, EA...
https://discovery.ucl.ac.uk/id/eprint/10059101/1/Mills_de%20Rooy%20PDE%20revised%2006032018.pdf.  , 2018
Link: https://discovery.ucl.ac..
 
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11

Long-Term Follow-Up of Cognition and Mental Health in Adult..:

Jahja, R ; van Spronsen, FJ ; de Sonneville, LMJ...
Jahja , R , van Spronsen , FJ , de Sonneville , LMJ , van der Meere , JJ , Bosch , AM , Hollak , CEM , Rubio-Gozalbo , ME , Brouwers , M , Hofstede , FC , de Vries , MC , Janssen , MCH , van der Ploeg , A , Langendonk , J & Huijbregts , SCJ 2017 , ' Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study ' , Behavior Genetics , vol. 47 , no. 5 , pp. 486-497 . https://doi.org/10.1007/s10519-017-9863-1.  , 2017
Link: https://pure.eur.nl/en/p..
 
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12

Social-cognitive functioning and social skills in patients ..:

Jahja, R ; van Spronsen, FJ ; de Sonneville, LMJ...
Jahja , R , van Spronsen , FJ , de Sonneville , LMJ , van der Meere , JJ , Bosch , AM , Hollak , CEM , Rubio-Gozalbo , ME , Brouwers , MCGJ , Hofstede , FC , de Vries , MC , Janssen , MCH , van der Ploeg , A , Langendonk , J & Huijbregts , SCJ 2016 , ' Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study ' , Journal of Inherited Metabolic Disease , vol. 39 , no. 3 , pp. 355-362 . https://doi.org/10.1007/s10545-016-9918-0.  , 2016
Link: https://pure.eur.nl/en/p..
 
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13

Occurrence of subdural hematomas in Dutch glutaric aciduria..:

Vester, MEM ; Visser, G ; Wijburg, FA...
Vester , MEM , Visser , G , Wijburg , FA , van Spronsen , FJ , Williams , M & van Rijn , RR 2016 , ' Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients ' , European Journal of Pediatrics , vol. 175 , no. 7 , pp. 1001-1006 . https://doi.org/10.1007/s00431-016-2734-6.  , 2016
Link: https://pure.eur.nl/en/p..
 
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