van Spronsen FJ - Search Results

1

The first European guidelines on phenylketonuria: Usefulness and implications for BH₄ responsiveness testing.

Evers RAF, van Wegberg AMJ, Anjema K, Lubout CMA, van Dam E, van Vliet D, Blau N, van Spronsen FJ. Evers RAF, et al. Among authors: van vliet d, van wegberg amj, van spronsen fj, van dam e. J Inherit Metab Dis. 2020 Mar;43(2):244-250. doi: 10.1002/jimd.12173. Epub 2019 Nov 20. J Inherit Metab Dis. 2020. PMID: 31503351

2

Behaviour and school achievement in patients with early and continuously treated phenylketonuria.

Stemerdink BA, Kalverboer AF, van der Meere JJ, van der Molen MW, Huisman J, de Jong LW, Slijper FM, Verkerk PH, van Spronsen FJ. Stemerdink BA, et al. Among authors: van spronsen fj, van der molen mw, van der meere jj. J Inherit Metab Dis. 2000 Sep;23(6):548-62. doi: 10.1023/a:1005669610722. J Inherit Metab Dis. 2000. PMID: 11032330

3

Phenylketonuria: tyrosine beyond the phenylalanine-restricted diet.

van Spronsen FJ, Smit PG, Koch R. van Spronsen FJ, et al. J Inherit Metab Dis. 2001 Feb;24(1):1-4. doi: 10.1023/a:1005689232358. J Inherit Metab Dis. 2001. PMID: 11286377 Review.

4

The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria.

Hoeksma M, Van Rijn M, Verkerk PH, Bosch AM, Mulder MF, de Klerk JB, de Koning TJ, Rubio-Gozalbo E, de Vries M, Sauer PJ, van Spronsen FJ. Hoeksma M, et al. Among authors: van rijn m, van spronsen fj. J Inherit Metab Dis. 2005;28(6):845-54. doi: 10.1007/s10545-005-0122-x. J Inherit Metab Dis. 2005. PMID: 16435176

5

The truth of treating patients with phenylketonuria after childhood: the need for a new guideline.

van Spronsen FJ, Burgard P. van Spronsen FJ, et al. J Inherit Metab Dis. 2008 Dec;31(6):673-9. doi: 10.1007/s10545-008-0918-6. Epub 2008 Aug 12. J Inherit Metab Dis. 2008. PMID: 18690552 Review.

6

Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.

van Spronsen FJ, van Rijn M, Dorgelo B, Hoeksma M, Bosch AM, Mulder MF, de Klerk JB, de Koning T, Rubio-Gozalbo ME, de Vries M, Verkerk PH. van Spronsen FJ, et al. Among authors: van rijn m. J Inherit Metab Dis. 2009 Feb;32(1):27-31. doi: 10.1007/s10545-008-0937-3. Epub 2009 Jan 10. J Inherit Metab Dis. 2009. PMID: 19130289

7

Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause?

van Spronsen FJ, Hoeksma M, Reijngoud DJ. van Spronsen FJ, et al. J Inherit Metab Dis. 2009 Feb;32(1):46-51. doi: 10.1007/s10545-008-0946-2. Epub 2009 Jan 13. J Inherit Metab Dis. 2009. PMID: 19191004 Review.

8

PKU-what is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders.

van Spronsen FJ, Ahring KK, Gizewska M. van Spronsen FJ, et al. J Inherit Metab Dis. 2009 Feb;32(1):58-64. doi: 10.1007/s10545-008-0966-y. Epub 2009 Jan 13. J Inherit Metab Dis. 2009. PMID: 19191005

9

Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.

Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ. Blau N, et al. Among authors: van spronsen fj. Mol Genet Metab. 2009 Apr;96(4):158-63. doi: 10.1016/j.ymgme.2009.01.002. Epub 2009 Feb 8. Mol Genet Metab. 2009. PMID: 19208488 Review.

10

Management of phenylketonuria in Europe: survey results from 19 countries.

Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers. Blau N, et al. Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13. Mol Genet Metab. 2010. PMID: 19800826

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